StemCell Therapy

Alpert JS, Natowicz MR (1993) Genetic discrimination and the public entities and public accommodations titles of the American with Disabilities Act. Am J Hum Genet 53:26-32 [PMC free article] [PubMed] American Academy of Pediatrics Committee on Bioethics (1988) Religious exemption from child abuse statues. Pediatrics 81:169-171 [PubMed] Biesecker BB, Boehnke M, Calzone K, Markel DS, Garber JE, Collins FS, Weber BL (1993) Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA 269:1970-1974 [PubMed] Billings PR, Kohn MA, deCuevas M, Beckwith J, Alper JS, Natowicz MR (1992) Discrimination as a consequence of genetic testing. Am J Hum Genet 50:476-482 [PMC free article] [PubMed] Block M, Hayden MR (1990) Predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet 46:1-4 [PMC free article] [PubMed] Brett AS, McCullough LB (1986) When patients request specific interventions: defining the limits of the physician's obligation. N Engl J Med 315(21): 1347-1351 [PubMed]

Buchanan AE, Brock DW (1989) Deciding for others: the ethics of surrogate decision making. Cambridge University Press, Cambridge

Fanos JH, Johnson J (1993) Barriers to carrier testing of CF siblings. Am J Hum Genet Suppl 53:51-50

45 CFR 46.408 US DHHS (1994) 45 Code Fed Reg 46, Subpart D: Additional protection for children involved as subjects in research. 48 Federal Register 9818

Grodin MA (1994) Children as research subjects. Oxford University Press, New York

Laberge CM, Knoppers BM (1990) Genetic screening: from newborns to DNA typing. In: Laberge CM, Knoppers BM (eds) Genetic screening: from newborns to DNA typing. Elsevier Science, Amsterdam, pp 379-412

Melton GB (1983) Children's competence to consent: a problem in law and social science. In: Melton GB, Knocher GP, Saks MJ (eds) Children's competence to consent. Plenum Press, New York and London, pp 1-20

President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research (1983) Screening and counseling for genetic conditions: the ethical, social, and legal implications of genetic screening, counsel- ing, and education programs. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research, Washington DC

Reilly PR (1991) The surgical solution: a history of an involuntary sterilization in the United States. Johns Hopkins University Press, Baltimore

Wadlington WJ (1983) Consent to medical care for minors: the legal framework. In: Melton GB, Koocher GP, Saks MJ (eds) Children's competence to consent. Plenum Press, New York and London, pp 57-74

Weithorn LA (1983) Involving children in decisions affecting their own welfare: guidelines for professionals. In: Melton GB, Koocher GP, Saks MJ (eds) Children's competence to consent. Plenum Press, New York and London, pp 235-260 Wertz D, Fletcher J (1988) Attitudes of genetic counselors: a multinational survey. Am J Hum Genet 42:592-600

More here:
Points to Consider: Ethical, Legal, and Psychosocial ...

This site uses cookies to improve performance. If your browser does not accept cookies, you cannot view this site.

There are many reasons why a cookie could not be set correctly. Below are the most common reasons:

This site uses cookies to improve performance by remembering that you are logged in when you go from page to page. To provide access without cookies would require the site to create a new session for every page you visit, which slows the system down to an unacceptable level.

This site stores nothing other than an automatically generated session ID in the cookie; no other information is captured.

In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a website to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it.

More:
Noninvasive Prenatal Genetic Testing: Current and Emerging ...

Feature NHGRI & ASHG seek policy fellowship applicants

NHGRI and the American Society of Human Genetics (ASHG) are now accepting applications for the 2016 Genetics & Public Policy Fellowship. The application period is now open until April 25, 2016. See: The Genetics & Public Policy Fellowship

The use of human subjects in the field of genomics raises a number of key policy considerations that are being addressed at NHGRI and elsewhere. Learn more about his important topic with a new fact sheet from the Policy and Program Analysis Branch. Read more

Cristina Kapusti, M.S., has been named chief of the Policy and Program Analysis Branch (PPAB) at the National Human Genome Research Institute (NHGRI). In her new role, she will oversee policy activities and evaluation as well as program reporting and assessment to support institute priorities. PPAB is a part of the Division of Policy, Communications and Education (DPCE), whose mission is to promote the understanding and application of genomic knowledge to advance human health and society. Read more

NIH has issued a position statement on the use of public or private cloud systems for storing and analyzing controlled-access genomic data under the NIH Genomic Data Sharing (GDS) Policy. Read the Position Statement

Last Updated: January 26, 2016

See original here:
Issues in Genetics - Genome.gov

Kessler, S. 1992. Psychological aspects of genetic counseling. VII: Thoughts on directiveness. Journal of Clinical Counseling l(1):9-17.

Kessler, S., and Jacopini, A. 1982. Psychological aspects of genetic counseling. II: Quantitative analysis of a transcript of a genetic counseling session. American Journal of Medical Genetics 12:421-435.

Kessler, S., et al. 1984. Psychological aspects of genetic counseling. III: Management of guilt and shame. American Journal of Medical Genetics 17:673-697.

Kevles, D. 1985. In the Name of Eugenics. Los Angeles, Calif.: University of California Press.

King, P. 1992. The past as prologue: Race, class, and gene discrimination. In Annas, G., and Elias, S. (eds.) Gene Mapping: Using Law and Ethics as Guides. New York: Oxford University Press.

Lerman, R. 1992. Final Solutions: Biology, Prejudice, and Genocide. University Park: Pennsylvania State University Press.

Levi-Pearl, Sue. 1992 (published in 1994). From a consumer's point of view (statement at the public forum). In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press.

Lin-Fu, J. 1981. Cooley's Anemia: A Medical Review. Publication No. (HSA) 81-5125. Rockville, Md.: U.S. Department of Health and Human Services.

Lin-Fu, J. 1987. Meeting the needs of Southeast Asian refugees in maternal and child health and primary care programs. Maternal and Child Health Technical Information Series 2-11. Rockville, Md.: Maternal and Child Health Bureau, Department of Health and Human Services.

Lin-Fu, J. 1988. Population characteristics and health care needs of Asian Pacific Americans. Public Health Reports 103:18-28.

Lin-Fu, J. 1989. Ethnocultural factors in genetic counseling: The Asian-Americans as a model. Presentation at the Conference on the Thalassemias: Diagnosis, Management, Future Perspective for Therapy, New York Hospital-Cornell Medical Center, New York, May 15.

Lipkin, M., et al. 1986. Genetic counseling of asymptomatic carriers in a primary care setting. Annals of Internal Medicine 105:115-123.

Lippman, A. 1991. Prenatal genetic testing and screening: Constructing needs and reinforcing inequities. American Journal of Law and Medicine 17:15-50.

Lippman, A. 1992a (published in 1994). The goals and purposes of genetics: Language, policy, and the construction of inequities. In Fullarton, J. (ed.) Proceedings of the Committee on Assessing Genetic Risks. Washington, D.C.: National Academy Press.

Lippman, A. 1992b. Geneticization and the Construction of Health: Biomedicine as Biopolitics. Address to the Royal Society of Medicine. London, October.

Lippman-Hand, A., and Fraser, F. 1979a. Genetic counselingParents' responses to uncertainty. Birth Defects: Original Article Series 15:325-339.

Lippman-Hand, A., and Fraser, F. 1979b. Genetic counseling: Provision and perception of information. American Journal of Medical Genetics 3:113-127.

Lippman-Hand, A., and Fraser, F. 1979c. Genetic counselingThe postcounseling period. 1: Parents' perceptions of uncertainty. American Journal of Medical Genetics 4:51-7 1.

Lippman-Hand, A., and Fraser, F. 1979d. Genetic counselingThe postcounseling period. II: Making reproductive choices. American Journal of Medical Genetics 4:73-87.

Loader, S., et al. 1991. Prenatal screening for hemoglobinopathies. II. Evaluation of counseling. American Journal of Human Genetics 48:447-451.

March of Dimes. 1990. Symposium on Genetic Services for Underserved Populations (May 1988). Birth Defects: Original Article Series.

Marteau, T. 1989. The impact of prenatal screening and diagnostic testing upon the cognitions, emotions, and behaviour of pregnant women. Journal of Psychosomatic Research 33:7-16.

Marteau, T. 1990. Reducing the psychological costs. British Medical Journal 301:26-28.

Meissen, G., and Berchek, R. 1987. Intended use of predictive testing by those at risk for Huntington's disease. American Journal of Human Genetics 26:283-293.

The rest is here:
4 Issues in Genetic Counseling | Assessing Genetic Risks ...

Issues in Genetics and Health

Genomics is the study of an organism's whole hereditary information that is present in its genes (DNA) and the use of its genes. It deals with the use of genome information associated with other information to provide answers in biology and medicine.

Genomic research may greatly change the practice of health care. But genomic research alone is not enough to apply this new knowledge to improving human health. We need to carefully study the many ethical, legal and social issues raised by this research. Such study is crucial to being able to use genomic research to help patients and to preventing misuse of new genetic technologies and information.

Ethical, legal and social issues raised by genomic research include:

Controversial issues such as cloning, stem cell research and eugenics also need to be carefully studied.

Since the beginning of the Human Genome Project, the National Human Genome Research Institute (NHGRI) has understood the need to address these issues as part of advancing the science of genomic research. We have an Ethical, Legal and Social Implications (ELSI) program, which is the federal government's largest funding source for study of these issues. Within NHGRI, the Division of Policy, Communications, and Education (DPCE) examines the intersection of ELSI issues with legislative policy and provides recommendations for federal policy and legislation. NHGRI also works to increase public awareness of ELSI issues in genomic research.

To learn more about ethics and policy topics and other resources for more information, follow these links to the Policy and Ethics section of this website.

Top of page

Last Updated: October 31, 2013

Continue reading here:
Issues in Genetics, Genomics and Health - genome.gov

disorder was untreatable as when the disorder was treatable (53 percent would contact a relative about the risk of Huntington disease; 54 percent about the risk of hemophilia A). Since most people at risk for Huntington disease have not chosen testing to see if they have the genetic marker for the disorder,67 geneticists may be overestimating the relative's desire for genetic information and infringing upon the relative's right not to know. They may be causing psychological harm if they provide surprising or unwanted information for which there is no beneficial action the relative can take.

In the legal realm, there is an exception to confidentiality: A physician may in certain instances breach confidentiality in order to protect third parties from harm, for example, when the patient might transmit a contagious disease68 or commit violence against an identifiable individual.69 In a landmark California case, for example, a psychiatrist was found to have a duty to warn the potential victim that his patient planned to kill her.70

The principle of protecting third parties from serious harm might also be used to allow disclosure to an employer when an employee's medical condition could create a risk to the public. In one case, the results of an employee's blood test for alcohol were given to his employer.71 The court held the disclosure was not actionable because the state did not have a statute protecting confidentiality, but the court also noted that public policy would favor disclosure in this instance since the plaintiff was an engineer who controlled a railroad passenger train.

An argument could be made that health care professionals working in the medical genetics field have disclosure obligations similar to those of the physician whose patient suffers from an infectious disease or a psychotherapist with a potentially violent patient. Because of the heritable nature of genetic diseases, a health professional whothrough research, counseling, examination, testing, or treatmentgains knowledge about an individual's genetic status often has information that would be of value not only to the patient, but to his or her spouse or relatives, as well as to insurers, employers, and others. A counterargument could be made, however, that since the health professional is not in a professional relationship with the relative and the patient will not be harming the relative (unlike in the case of violence or infectious diseases), there should be no duty to warn.

The claims of the third parties to information, in breach of the fundamental principle of confidentiality, need to be analyzed, as indicated earlier, by assessing how serious the potential harm is, whether disclosure is the best way to avert the harm, and what the risk of disclosure might be.

The genetic testing of a spouse can give rise to information that is of interest to the other spouse. In the vast majority of situations, the tested individual will share that information with the other spouse. In rare instances, the information will not be disclosed and the health care provider will be faced with the issue of

See the original post here:
8 Social, Legal, and Ethical Implications of Genetic ...

Legal Issues

Common-Law Protection of Genetic Information Privacy

Some protection for genetic information privacy is offered by common law tort remedies. The common law right of privacy prevents public disclosure of private facts. Most courts have, however, found that such a claim requires widespread disclosure to the public, which will not occur in most cases involving the release of personal genetic information. Another restrictive element of the public disclosure tort is that most courts require disclosure to someone without a "legitimate interest" in the information. Some courts consider employers to have such a legitimate interest in much of their worker's medical information.

The tort right of privacy also prevents intentional intrusions upon the private affairs or concerns of an individual. Such intrusions, however, must be "highly offensive." Miller v. Motorola illustrates the weakness of the intrusion tort action for protecting genetic information privacy. In this case, an employer disclosed sensitive medical information to the plaintiff's co-workers. The Illinois court found no "intrusion" on the plaintiff because she had "voluntarily provided" the information to her employer.

Statutory Protection of Genetic Information Privacy

United States Constitution

The act of genetic testing raises the issue of Fourth Amendment protection from unreasonable bodily intrusions. However, the Fourth Amendment provision against unreasonable searches and seizures is inapplicable to private organizations in the absence of state action. The effects of genetic testing may be attacked under two Fourteenth Amendment doctrines as well. The first is the Fourteenth Amendment's substantive due process protection of the right of privacy. The second is the guarantee of equal protection. Some genetic diseases are primarily confined to certain racial groups, raising the possibility of creating a suspect class. In addition, there may be a question of restrictions on procreative choice resulting from directive counseling. Such counseling could infringe fundamental liberty rights. Finally, the act of genetic testing may be contrary to certain religious beliefs. Mandatory genetic testing programs may violate the First Amendment's guarantee of religious freedom.

When the government collects personal data, a constitutional right to informational privacy applies to the data collected. This right was first identified in Whalen v. Roe, a case that involved medical data. Whalen concerned a New York State plan to collect and store information relating to the prescription of certain drugs that had both legitimate and illegitimate applications. In judging the constitutionality of this state scheme, the Supreme Court found that the United States Constitution included a right of informational privacy that prohibited "disclosure of personal matters" and protected "independence" in decision-making.

To check whether the nondisclosure interest had been violated, the Court examined the data security measures of New York. These measures included storing the prescription forms in a vault until their ultimate destruction; surrounding the room in which these data were received with a wire fence and protecting this area with an alarm system; and promulgating statutory and regulatory measures that prohibited disclosure to the public. The Court found such actions were well designed to ensure that the personal medical data collected by the state government would be kept from the public.

The second Whalen interest, independence in making certain types of important decisions, was implicated by the patient's decision whether to acquire and use needed medicine. Although the government's record-keeping had discouraged some use of the drugs in question, "the decision to prescribe, or to use" remained in the control of the physician and the patient. Therefore, the Court found that New York's data processing scheme did not violate interest of independence in decision making. The Whalen two-branch approach offers a model with potential for the protection of personal genetic information.

Unfortunately, lower courts analyzing governmental attempts to obtain or examine medical information have done so primarily with reference to the first Whalen interest. Indeed, some courts have even viewed Whalen as a decision that sanctions all "legitimate" governmental requests for medical data. The independence of decision making interest identified in Whalen has been almost entirely absent from case law. Thus, although Whalen offers a potentially useful element in the overall structure of a genetic information privacy protection law, it has not led to vigorous protection of medical or genetic information privacy. Finally, in the absence of state legislation, private parties may conduct across-the-board genetic testing without the constitutional implications faced by federally funded programs. Thus, private employers, insurers, and social organizations may test all applicants under existing law.

Americans With Disabilities Act[68]

The Americans With Disabilities Act ("ADA") serves to prevent discrimination against individuals with disabilities in critical areas like employment, housing, public accommodations, education, transportation, health services, and access to public services. If individuals subjected to genetic testing are discriminated against as a result of such testing, they are protected by the ADA because they are "perceived" to be disabled. Thus, even though the genetic disorder may not manifest itself physically to the point of limiting one or more of the major life activities of the individual, any person who is believed to be disabled would be protected by the ADA.

However, as a defense, the ADA permits employers to use techniques like genetic testing to screen individuals to find out if they have disabilities that pose a significant threat to the health and safety of other workers. The ADA can provide some protection against discrimination resulting from genetic testing in employment and other federally funded areas. However, it does not address the use of genetic information in law enforcement, adoption, insurance, or confidentiality and privacy issues.

The Human Genome Privacy Act[72]

The Human Genome Privacy Act ("HGPA") was introduced on September 17, 1990, to Congress by Representative John Conyers, Jr. (D-Mich.). The HGPA attempts to offer protection to genetic information by allowing greater individual control over the use and verification of genetic information.

First, the HGPA permits the individual to inspect any genetic information on himself or herself maintained by a government agency. Second, the HGPA allows an individual to request amendment of any personal genetic information maintained by the agency while granting the agency the right to refuse to amend. These provisions of the HGPA enable an individual to ensure that accurate results are maintained, and they also allow the individual to verify false positives and update his or her genetic database. Third, the HGPA requires all agencies maintaining genetic information to provide written notice of their practices, including the rights of an individual to inspect and amend genetic data. Section 143(a) of the HGPA provides that intentional and unauthorized disclosure, maintenance, or security of genetic information shall be punishable as a misdemeanor and carry a fine of up to $10,000 In addition, the HGPA provides declaratory and injunctive relief to individuals whose rights have been violated.

Requiring individuals to consent to disclosure of their information rather than simply notifying them of such disclosure would provide individuals with greater security and privacy. This provision would restrict the flow of genetic information and enable people to trace the source of leaked genetic data more easily. Disclosure without an individual's authorization is permitted under the HGPA only in medical emergencies, clinical-care circumstances, or adoption situations when "reasonable efforts to locate the individual" have failed, and when required by law.

While well intentioned and timely, the HGPA's effectiveness is doubtful. First, its operative language is vague. How far must one go to prevent misuse, including possible unlawful discrimination by third parties? The civil and criminal penalty provisions in the HGPA do not address this issue. Although the HGPA provides individuals with some autonomy in maintaining their genetic records, the HGPA does not give any guidelines as to when and how individuals may amend their records, or the use of the data before they are altered. The HGPA indicates that the agencies holding genetic data are the sole arbiters of all requests for information. This leaves the agencies with much discretion.

Our conclusion about the issues presented on this web site is presented here.

Back to Home

Read the original:
Legal Issues - udel.edu

This site uses cookies to improve performance. If your browser does not accept cookies, you cannot view this site.

There are many reasons why a cookie could not be set correctly. Below are the most common reasons:

This site uses cookies to improve performance by remembering that you are logged in when you go from page to page. To provide access without cookies would require the site to create a new session for every page you visit, which slows the system down to an unacceptable level.

This site stores nothing other than an automatically generated session ID in the cookie; no other information is captured.

In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a website to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it.

See the original post:
The Current Landscape for Direct-to-Consumer Genetic ...

Ethical, Legal and SocialIssues in Genomic Medicine

Genomics is the study of an organism's whole hereditary information that is present in its genes (DNA) and the use of its genes. It deals with the use of genome information associated with other information to provide answers in biology and medicine.

Genomic research may greatly change the practice of health care. But genomic research alone is not enough to apply this new knowledge to improving human health. We need to carefully study the many ethical, legal and social issues raised by this research. Such study is crucial to being able to use genomic research to help patients and to preventing misuse of new genetic technologies and information.

Ethical, legal and social issues raised by genomic research include:

Controversial issues such as cloning, stem cell research and eugenics also need to be carefully studied.

Since the beginning of the Human Genome Project, the National Human Genome Research Institute (NHGRI) has understood the need to address these issues as part of advancing the science of genomic research. We have an Ethical, Legal and Social Implications (ELSI) program, which is the federal government's largest funding source for study of these issues. Within NHGRI, the Division of Policy, Communications, and Education (DPCE) examines the intersection of ELSI issues with legislative policy and provides recommendations for federal policy and legislation. NHGRI also works to increase public awareness of ELSI issues in genomic research.

To learn more about ethics and policy topics and other resources for more information, follow these links to the Policy and Ethics section of this website.

Top of page

Last Updated: October 31, 2013

Go here to see the original:
Ethical, Legal and Social Issues in Genomic Medicine

Dale Halsey Lea, MPH, RN, CGC, FAAN The complete sequencing of the human genome in 2003 has opened doors for new approaches to health promotion, maintenance, and treatment. Genetic research is now leading to a better understanding of the genetic components of common diseases, such as cancer, diabetes, and stroke, and creating new, gene-based technologies for screening, prevention, diagnosis, and treatment of both rare and common diseases. Nurses are on the forefront of care, and therefore will participate fully in genetic-based and genomic-based practice activities such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. This new direction in healthcare calls for all nurses to be able to effectively translate genetic and genomic information to patients with an understanding of associated ethical issues. This article will present six genetic and genomic healthcare activities involving ethical issues of importance to nurses. For eachactivity discussed, an overviewof current and/or emerging ethical issues will be presented. Approaches nurses can use to integrate comprehensive and current knowledge in genetics and genomics into their practice to most fully meet the needs of their patients, families, and society will also be described.

Citation: Lea, D, (January 31, 2008) "Genetic and Genomic Healthcare: Ethical Issues of Importance to Nurses" OJIN: The Online Journal of Issues in Nursing. Vol. 13 No. 1 Manuscript 4.

DOI: 10.3912/OJIN.Vol13No01Man04

The complete sequencing of the human genome in 2003 brings with it new approaches to the diagnosis and treatment of rare and common diseases. As noted in the November 2005 Genomic National Human Genome Research Policy Roundtable Summary:

One of the National Human Genome Research goals therefore is to enhance health care through the integration of genomic medicine into mainstream medical practice (National Human Genome Research Institute, 2005).

New genomic discoveries and their applications bring great hope for a more personalized approach to treat disease. The field of genetics, until recently, has focused on rare, single-gene diseases, such as muscular dystrophy. However, a new field of research, called genomics, which is the study of all the genes in the human genome together, including their interactions with each other, the environment, and the influence of other psychosocial and cultural factors (American Nurses Association, 2006 p. 9) has emerged. Genetics has evolved to encompass the impact of a persons entire genome,environmental factors, and their combined effects on health. This evolution is creating new, gene-based technologies for the screening, prevention, diagnosis, and treatment of both rare and common diseases, such as cancer, diabetes, heart disease, and stroke. New genomic discoveries and their applications bring great hope for a more personalized approach to treat disease. This new approach is called personalized medicine. Clinicians are beginning to move away from the one size fits all approach to diagnosis and treatment of common and rare diseases (National Human Genome Research Institute, 2007).

Although these new directions raise hopes for disease prevention and treatment, they also bring challenging ethical issues to patients and healthcare providers alike (See Table 1). The United States (U.S.) National Institutes of Health (NIH) and the U.S. Department of Energy (DOE) recognized the potential for ethical challenges in genetic and genomic research early on. They had the foresight to devote 3% - 5% of their annual Human Genome Project (HGP) budget towards studying the ethical, legal, and social issues (ELSI) related to the availability of genetic information. This is the worlds largest bioethics program, and it has become a model for ELSI programs worldwide (National Human Genome Research Institute, 2007). Table 2 presents ELSI research areas identified as grand challenges for the future of genomic research.

(Adapted from Human Genome Project Information, 2007)

Nurses are at the forefront of patient care, and will participate fully in genetic-based and genomic-based practice activities, such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. Nurses are at the forefront of patient care, and will participate fully in genetic-based and genomic-based practice activities, such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. Nurses will therefore have a critical role advocating for, educating, counseling, and supporting patients and families who are making gene-based healthcare decisions (Cassells, Jenkins, Lea, Calzone, & Johnson, 2003). Nurses will need to be able to effectively translate genetic and genomic information to their patients with an understanding of associated ethical issues. This new direction in healthcare calls for nurses to integrate into their scope of practice the emerging field of genetics and genomics. The increased availability of personal genetic information also challenges nurses to understand the ethical issues associated with activities such as informed decision making, informed consent and genetic testing, genetic and genomic research testing protection, maintaining privacy and confidentiality of genetic information, preventing genetic discrimination, and strengthening genetic and genomic care around the world.

This article will provide an overview of the above six activities associated with genetic and genomic healthcare in which nurses are involved and a discussion of the ethical issues inherent in each of these activities.For eachactivity discussed, an overviewof current and/or emerging ethical issues will be presented.Approaches nurses can use to integrate comprehensive and current knowledge regarding genetics and genomics into their practice to most fully meet the needs of their patients, families, and society will also be described.

Informed decision making and associated consent involve working to be as sure as possible that the individual understands the nature, risks, and benefits of the procedure, and that the individual gives consent without coercion (American Nurses Association, 2001; Skirton, Patch, & Williams, 2005). Genetic and genomic research is creating new areas for nursing involvement in the informed, decision-making process. As Skirton et al. pointed out, the increasing availability of genetic information and technology means that patients and families will be learning more about their genetic identity and beliefs related to this identity. The implication for nurses is that they will increasingly be involved in discussing these issues with patients in all areas of healthcare during the process of obtaining consent. Areas of informed decision making and consent in which nurses will be most involved include gathering family history and requesting medical information. Each will be discussed in turn.

Gathering Family History

Nurses practicing in primary healthcare settings and specialty care, such as oncology, will continue to be involved in obtaining and reviewing patient family histories. In doing this the nurse can explain the nature and purpose for gathering family history before seeking the patients verbal consent for this process. When family history is needed for other family members, the nurse promotes confidentiality by gathering family history again from additional family members.

Requesting Medical Information

Nurses in all practice settings may be involved in requesting medical information from patients and their relatives. When it is necessary to request information from the patient, it is important that the nurse explain the need to request the patients medical information and records so that the most accurate medical information can be obtained and appropriate recommendations can be made. There may be situations where it is necessary to collect medical information from the patients family members. In these cases the nurse can explain this need and the process to the family members and facilitate their written consent for the release of their medical information.

The use of genetic testing from pre-conception through adulthood is expanding rapidly. Genetic testing is increasingly used across the life continuum for screening, diagnosis, and determining the best treatment of diseases. Obstetric and pediatric nurses have traditionally been involved in the genetic testing process with prenatal screening for genetic conditions such as spina bifida and Down syndrome, and newborn screening for genetic conditions such as phenylketonuria (PKU). Nursing involvement in genetic testing has expanded to specialties such as oncology, with genetic testing now available for hereditary breast, ovarian, and other cancers. Nurses in all practice areas will be increasingly involved in the genetic testing process, helping the patient understand the purpose and also the risks and benefits of the genetic test, as part of the informed, decision-making and consent process. The nurse may also obtain written consent for the use of a patients biological samples for research purposes, and for the purpose of sharing the results of the testing with other family members (Skirton, Patch, & Williams, 2005).

The use of genetic testing from pre-conception through adulthood is expanding rapidly. As a result of this expansion, new ethical issues are emerging related to genetic testing and informed consent. These new issues create ethical challenges for nurses and all healthcare providers. Currently expanding areas include newborn screening and genetic testing of children. These new ethical challenges will be described below.

Newborn screening is an expanding use of genetic testing. A technology called Tandem Mass Spectrometry is now being used by many state newborn screening programs, allowing screening for more than 24 different genetic disorders using one simple test (American Academy of Pediatrics, 2001). This expanded newborn screening raises new issues around informed decision making. As noted by the American Academy of Pediatrics, genetic testing differs from other types of medical testing in that it provides information about the family. For example, a diagnosis of PKU made in an infant through newborn screening means that the infants parents are carriers, and that they have a 25% chance with each future pregnancy for having another child with PKU. Each of the parents siblings has a 50% chance to be carriers. Thus the screening results may have associated psychological, social, and financial risks. Psychological risks for parents who are carriers may include parental guilt. A child diagnosed with a genetic condition may face lowered self-esteem and risk insurance and employment discrimination.

Psychological risks for parents who are carriers may include parental guilt. Newborn screening may identify infants who are carriers for a particular condition, such as sickle cell anemia. Giving the parents the infants carrier status has the potential advantage of letting the parents know that they may be at risk for having an affected child in another pregnancy. On the other hand, identifying infants as carriers may lead to misunderstanding and misinterpretation by the parents and others that could interfere with the parent-child relationship and result in potential social discrimination. As recommended by the Institute of Medicine and the American Academy of Pediatrics, newborns should not be screened specifically to identify their carrier status. Carrier status findings that are obtained incidentally through the newborn screening process should be given only to parents who have had previous counseling and who have given their consent (American Academy of Pediatrics, 2001; Institute of Medicine, 1994).

Furthermore, many genetic conditions are still difficult to treat or prevent, which means that the information gained from newborn screening may be of limited value in terms of treatment. Given these concerns, the American Academy of Pediatrics (2001) noted detailed counseling, informed consent and confidentiality should be key aspects of the genetic testing process, particularly when the benefits are uncertain (p. 2).

At present, most states have mandatory newborn screening programs that require all infants to be screened unless the parents refuse. This is called informed dissent, with minimal information provided to parents. An informed consent process, on the other hand, would involve discussion with the parents about the risks, benefits, and limitations of newborn screening before agreeing to the testing. Having an informed consent process for newborn screening has the potential for more prompt and efficient responses to positive results. The American Academy of Pediatrics (2001) has recommended that pediatric providers give parents the necessary information and counseling about the risks, benefits, and limitations of newborn screening, and that they collaborate with genetics professionals and prenatal care providers in providing this complex information to the parents.

There are currently two states that require informed consent for newborn screening, Wyoming and Maryland. Thirteen other states require that parents be informed about the newborn screening before the testing is done on their infant. All but one state, South Dakota, allow parental refusal of newborn screening for personal or religious reasons (American Academy of Pediatrics, 2001).

Genetic Testing of Children

Another emerging ethical issue with regard to informed consent is the possibility of testing children using predictive, genetic screening for adult-onset diseases such as cancer, diabetes, heart disease, and stroke. Studies have shown that many adults choose not to have genetic testing for adult-onset disorders. This raises the question about whether children screened for adult-onset disorders would want or benefit from such testing (Lerman, Narod, & Schulman, 1996). At present, genetic testing of children and adolescents to predict adult-onset disorders is deemed inappropriate when the genetic information has not been shown to reduce morbidity and mortality if interventions are begun in childhood. In addition, genetic testing for adult-onset disorders in childhood eliminates the childs right to informed choice, and risks the possibility of lifelong stigma and discrimination (American Academy of Pediatrics, 2001). It is currently recommended that healthcare providers, including nurses, not accommodate parents requests to have predisposition testing for their infant or child until the child is old enough, and has developed adequate, decision-making abilities to make an informed choice (American Society of Human Genetics, 1995).

A new area of genetic and genomic research is called genome-wide association studies (GWAS). The goal of GWAS is to identify common genetic factors that have an impact on health and disease. A genome-wide association study is defined as any study of human genetic variation that involves the entire human genome to identify genes associated with common traits, such as high blood pressure or diabetes, or to determine if a person has or does not have a specific disease or condition (U.S. Department of Health and Human Services [U.S. DHHS], 2007). This research has the potential for a better understanding of genetic factors that affect human health, and for improving disease screening, diagnosis, prevention, and treatment.

To move forward with this new research, the U.S. NIH has developed a NIH-wide policy for sharing GWAS data, which includes deposition of the data into a central NIH repository. One of the important areas being explored is protection of research participants, as the data, such as a persons ancestry or paternity,may be highly sensitive. The nature of the genetic and other information gained through GWAS underscores the importance of the informed consent process that accompanies this research.NIH is now establishing mechanisms to oversee the NIH GWAS Data Repository, monitor data use practices, and explore the evolving ethical issues fundamental to the implementation of the policy, including improving the informed consent for GWAS data sharing among researchers (U.S. DHHS, 2007) to ensure that research participants are adequately informed about their options for data sharing and are afforded an appropriate level of control over the decision making process (McGuire & Gibbs, 2006, p. 811).

McGuire and Gibbs (2006) outlined three types of consent processes that are being considered in GWAS studies. These are: traditional consent, binary consent, and tiered consent. Traditional consent involves individuals agreeing both to participate in the research and to the public release of their genetic data. However, some participants may only want to participate and not to agree to share their data. The traditional approach has the potential of limiting the number of individuals willing to participate in the research. A binary-consent process involves research participants agreeing to participate in the primary research project, but choosing not to share their genetic data. In a tiered consent, research participants agree to participate in the primary research study, and are offered a number of options for data sharing, thus allowing them more control over whether, how, and with whom their genetic data are shared (McGuire & Gibbs). The tiered approach is the most ethically sound approach for patients in that it offers them several opportunities to become informed about the research directions and to consider how they wish their genetic information to be shared. Nurses practicing in research settings should be aware of these potential changes in the genetic-informed and genomic-informed consent process so that they can properly educate individuals and families who are considering participating in GWAS and other genomic research.

Genetic technologies are creating new sources of medical information for individuals, families, and communities that raise important ethical, legal, and social issues. Nurses need to be familiar with the nature and sources of genetic information so that they can assure privacy and confidentiality for their patients.

Nurses need to be familiar with the nature and sources of genetic information so that they can assure privacy and confidentiality for their patients. Genetic information is defined as heritable, biological information (National Human Genome Research Institute, 2007). Genetic information can be identified at any point throughout a persons lifespan from pre-conception until after death. In addition to heritable, biological information, family history, genetic test results, and medical records are also sources of genetic information (Jenkins & Lea, 2005).

Privacy, as defined by the ANA Code of Ethics (2001) involves the right of the individual to control their own body, actions, and personal information. Confidentiality refers to the nurses obligation to protect, and not to disclose, personal information provided in confidence to another. Genetic information obtained from family history and genetic testing, however, may reveal information not only about the health risks of the individual patient being seen, but also of other family members who may not be aware of the health concern.

An ethical dilemma arises for nurses and other healthcare providers when a patient does not choose to share genetic information with other family members when it may be important to their health. This creates a dilemma for the nurse, who on the one hand must respect the patients confidentiality, while on the other hand has the duty to warn other family members of their potential health risks. As an example, a woman who tests positive for hereditary breast/ovarian cancer informs her nurse that she does not wish to share this information with her sisters and her mother as she does not get along with them. The concern for her sisters and mother is that each of them now has a 1 in 2 chance to carry the same breast/ovarian cancer gene mutation that confers a significantly increased risk to develop breast/ovarian cancer. The nurse can be guided by the ANA Code of Ethics for Nurses (2001) to seek help and counsel from experienced individuals of the Ethics Board within their institution. At this point in time, the nurse does not have the legal authority to breach the confidentiality of the client-nurse relationship to disclose genetic information about one individual to another individual (Giarelli, Lea, Jones, & Lewis, 2006, p. 65).

Nurses should also be aware of broader societal privacy concerns. Genetic testing on DNA can be done on stored blood or tissue samples that have been collected for other purposes, for example, newborn screening samples. Data banks of DNA are being established, and genetic disease registries also exist. The ethical concern is that an individuals DNA sample will be used for additional research and testing without his or her informed consent. The U.S. National Institutes of Health is taking a leading role in addressing these concerns and creating models of informed consent that will assure patients privacy (U.S. DHHS, 2007).

Genetic discrimination was identified early on in the Human Genome Project by the Ethical, Legal, and Social Implications program at the National Human Genome Research Institute as an ethical issue that needed to be addressed before the benefits of the Human Genome Project could be fully implemented. Although many are hopeful about the use of genetic information to improve health and combat disease, many are concerned about the potential for misuse, involving, for example, insurance and employment discrimination. Individual concerns include worries that genetic information may be used to deny or limit insurance coverage or to determine who is hired or fired. There is concern voiced that some insurers may choose not to insure people who are healthy but genetically pre-disposed to future disease onset (National Human Genome Research Institute, 2007).

Nurses in all practice settings will be involved in the ethical management of genetic information. Nurses share the responsibility with other healthcare providers to protect clients and their families against the misuse of their genetic information. Nurses must work with healthcare teams and institutions to create practice environments in which their clients can be assured that their genetic information is shared in a professional manner (Consensus Panel, 2006).

Many lawmakers, scientists, and health advocacy groups believe that there is a need for Federal Legislation to prevent genetic discrimination. Many lawmakers, scientists, and health advocacy groups believe that there is a need for Federal Legislation to prevent genetic discrimination. Nurses should know of the Genetic Information Nondiscrimination Act (GINA), an Act that is currently before the United States Senate. GINA is designed to prohibit improper use of genetic information in insurance and employment decisions. This Act, supported by the current President of the United States, would prohibit group health insurance plans and health insurers from denying coverage to a healthy person or charging higher insurance rates based on a persons genetic predisposition to a disease. It would also prohibit employers from using a persons genetic information to make decisions about hiring, job placement, promotion, or firing decisions. When these protections are enacted, Americans will be free to use genetic and genomic information in medical care without the fear of misuse. At present, more than 140 national patient groups, academic institutions, research centers, companies, womens organizations, labor organizations, and millions of Americans endorse the GINA Act (National Human Genome Research Institute, 2007).

Nurses have an important role in helping to move the GINA legislation forward. They can write to their state representatives and senators encouraging them to support GINA. Nurses can also call upon the nursing organizations to which they belong to endorse the GINA Act. Furthermore, nurses can talk with their patients, families, and their communities about GINA, making them aware of this important legislation, and encourage them to take actions to support passage of the GINA Act.

Governmental agencies can assist nurses in promoting genetic and genomic healthcare around the world. Gene-based diagnostics and therapeutics are being widely integrated into healthcare today. However, there are barriers to accessing these new technologies for the public worldwide. An important role for all nurses will be to make sure that the health and social needs of the public are being met, including addressing the technological inequities in accessing genomic health care worldwide (Jenkins & Lea, 2005). This requires a major shift in emphasis to a more global view of health and disease.

The basis for nurses to work to assure equal access to genomic health care around the world can be found in the core public health function of assurance (Khoury, Burke, & Thomson, 2000) and in the World Health Organizations Proposed Guidelines on Ethical Issues in Medical Genetics and Genetics Services (WHO, 1997). The core public health function of assurance includes making sure that the general public has access to and quality of genomic healthcare, and informing populations about relevant genomic health issues and services (Khoury et al.). The World Health Organization document emphasizes the importance of education about genetics for the public and all healthcare professionals noting the profound economic and technological inequities that exist between nations (World Health Organization, 2007).

Governmental agencies can assist nurses in promoting genetic and genomic healthcare around the world. In the United States, the Centers for Disease Control and Prevention (CDC) has taken a leading role in addressing issues of access to genetic and genomic resources by creating multiple tools and resources that address the role of genetics in public health (Centers for Disease Control, 2007). Furthermore, the CDC has developed Genomic Competencies for the Public Health Workforce that include being aware of and addressing issues of equity in genetic and genomic healthcare (Centers for Disease Control, 2007). Nurses can take a leading role working with state, federal, and international health agencies to provide guidance to health systems with regard to decisions about utilization of genetics and genomics services. Nurses are also encouraged to participate in policy development that includes consideration of alternatives for the best possible use of shared resources, including equal access for the public to genetics and genomics services and technologies (Jenkins & Lea, 2005).

Nursing practice is increasingly incorporating genetics and genomics into its continuum of care, including attention to and consideration of ethical issues. The opportunities for nurses to fully participate in genomic healthcare throughout the healthcare continuum, for all populations, and at all stages in the lifespan are multiple. Nurses will increasingly participate in the genetic testing process for the screening, diagnosis, and treatment of genomic-based health conditions. Nurses will also be involved in creating healthcare plans based on genomic information, and in the administration of gene-based treatments. The challenge for nursing is to ensure that the nursing workforce is prepared and competent to provide genetic and genomic care. Knowledge and understanding of current and emerging ethical issues is an essential component of this knowledge base. As a first step, nurses need to examine their own ethical beliefs and concerns with regard to genetics and genomics (Consensus Panel, 2006). Nurses also need to build an ethical assessment framework to support them in their delivery of appropriate genetic and genomic healthcare. Having an Ethical Assessment Framework as described by Cassells et al. (2003) can help nurses to develop expertise in the genetics and genomics, ethical, decision-making process.

The creation of essential competencies in genetics and genomics by nurses worldwide provides a foundation that supports the expanding role of nursing in genetic and genomic healthcare (Consensus Panel, 2006; Kirk, 2005). Nurses worldwide are encouraged to work towards incorporating these competencies into nursing education, healthcare, and research. Table 3 presentsgenetic and genomiccompetencies in nurses' professional responsibilities and practice domains for nurses to incorporate into their education and practice.Nurses also must become familiar with resources that will help them incorporate the genetics and genomics, and related ethical concerns, into their daily practice (See Table 4). Incorporating these essential ethical competencies into nursing practice will ensure that nurses provide quality and ethically sound nursing care in the new age of genomic healthcare.

Professional Responsibilities

Professional Practice Domain

Adapted from: Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics (Consensus Panel, 2006)

National Human Genome Research Institute: Genetics and Genomics for Patients and the Public

Bioethics Resources in Genetics and Genomics National Human Genome Research Institute (NHGRI)

National Human Genome Research Institute

Human Genome Project Education Resources

National Human Genome Research Institute: Health Professional Education Resources

Centers for Disease Control National Office of Public Health Genomics

Genetics and Public Policy Center

Dale Halsey Lea, MPH, RN, CGC, FAAN E-mail: lead@mail.nih.gov

Dale Halsey Lea is a Board-Certified, genetic counselor with more than 20 years experience in clinical and educational genetics. She is currently the Health Educator with the Education and Community Involvement Branch and the Genome Healthcare Branch, National Human Genome Research Institute. As Health Educator, Ms. Lea develops consumer and health professional genetics health education and community involvement programs and resources; translates genetic and genomic research results into terms understandable by lay audiences and health professionals; collects and assimilates data for Institute reports; conducts genetics research for the Education and Community Involvement Branch; and provides administrative support for public education and community involvement programs.

Ms. Lea is a member and past President, of the International Society of Nurses in Genetics (ISONG).She is also a member of the National Society of Genetic Counselors and the Oncology Nursing Society. She received the ISONG Founders Award in 1999 in recognition of outstanding nursing and patient education in genetics. In 2001, Ms. Lea was inducted into the American Academy of Nursing (AAN), and currently serves on the (AAN) Expert Panel on Genetics. Ms. Lea is widely published in the nursing and genetics literature on integrating genetics into nursing practice, focusing on the creation of interdisciplinary partnerships in the provision of genetic- and gemonic-related healthcare.

American Academy of Pediatrics (2001). American Academy of Pediatrics: Ethical Issues with Genetic Testing in Pediatrics. Pediatrics,107 (6), 1451-1455.

American Nurses Association (2001). Code of ethics for nurses with interpretive statements. Washington, DC: Author.

American Society of Human Genetics, American College of Medical Genetics. (1995). Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 57, 1233-1241.

Cassells, J.M., Jenkins, J., Lea D.H., Calzone K., & Johnson E. (2003). An ethical assessment framework for addressing global genetic issues in clinical practice. Oncology Nursing Forum, 30(3), 383-90;

Centers for Disease Control, National Office of Public Health Genomics. (2007a). Training. Retrieved on November 9, 2007 from the Centers for Disease Control, National Office of Public Health, http://www.cdc.gov/genomics/training.htm

Centers for Disease Control, National Office of Public Health Genomics. (2007b). Training: Resources and tools. Retrieved on November 9, 2007 from the Centers for Disease Control, National Office of Public Health, Genomics, http://www.cdc.gov/genomics/training/resources.htm#genomic .

Consensus Panel on Genetic/Genomic Nursing Competencies. (2006). Essential nursing competencies and curricula guidelines for genetics and genomics. Silver Spring, MD: American Nurses Association.

Giarelli, E, Lea, D.H., Jones, S.L., & Lewis, J.A. (2006). Genetic technology: Frontiers of nursing ethics. In V.D. Lachman (Ed.), Applied Ethics in Nursing (pp.61 80). New York: Springer Publishing Company.

Human Genome Project Information . (2007). Retrieved on November 9, 2007 from Human Genome Project Information http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml

Institute of Medicine (1994). Assessing genetic risk: Implications for health and social policy. Washington, D.C: National Academy Press.

Jenkins, J. & Lea, D.H. (2005). Nursing care in the genomic era: A case-based approach. Sudbury, Ma: Jones & Bartlett Publishers.

Khoury, M., Burke, W., Thomson, E.J. (2000). Genetics and public health in the 21 st century: Using genetic information to improve health and prevent disease. Oxford: Oxford University Press.

Kirk, M. (2005). Introduction to the genetics series. Nursing Standard. 20, 1, 48.

Lerman, C., Narod, S., Schulman, K. (1996). BRCA1 testing in families with hereditary breast-ovarian cancer: A prospective study of patient decision making and outcomes.JAMA, 275, 1885-1892.

McGuire, A.L., & Gibbs, RA (2006). Currents in contemporary ethics.Nanotechnology: Journal of Law, Medicine, & Ethics, 809 812.

National Human Genome Research Institute. (2005). NHGRI Policy Roundtable Summary. The future of genomic medicine: Policy implications for research and medicine. Retrieved on November 9, 2007 from the National Human Genome Research Institute, http://www.genome.gov/17516574.

National Human Genome Research Institute. (2007a). ELSI Research Program. Retrieved on November 9, 2007 from the National Human Genome Research Institute, http://www.genome.gov/10001618

National Human Genome Research Institute. (2007b). Genetic discrimination. Retrieved on November 9, 2007 from the National Human Genome Research Institute, http://www.genome.gov/10002077

National Human Genome Research Institute. (2007c). Personalized medicine: How the human genome era will usher in a health care revolution. Retrieved on November 9, 2007 from the National Human Genome Research Institute, http://www.genome.gov/13514107

National Human Genome Research Institute. (2007d). Summary of genetic information non-discrimination act of 2003 (S.1053). Retrieved on November 9, 2007from the National Human Genome Research Institute, http://www.genome.gov/11508845

National Institutes of Health. (2007). Policy for sharing of data obtained in NIH supported or conducted genome-wide association studies (GWAS). Retrieved on November 9, 2007 from the National Institutes of Health, http://www.genome.gov/10002077

Skirton, H., Patch, C. & Williams, J. (2005). Applied genetics in healthcare: A handbook for specialist practitioners. New York: Taylor & Francis Group.

Tranin, A.S., Masny, A., & Jenkins, J. (2003). Genetics in oncology practice. Pittsburgh, PA: Oncology Nursing Society.

U.S. Department of Health and Human Services, National Institutes of Health. (2007). Policy for sharing of data obtained in NIH supported or conducted Genome-Wide Association Studies (GWAS). Federal Register, 72, 166, 49290 49297. Retrieved on November 9, 2007 from the National Institutes of Health, http://www.genome.gov/10002077

World Health Organization. (2007). Educational tools for health professionals. Retrieved on November 9, 2007 from the World Health Organization http://www.who.int/genomics/professionals/tools/en/index.html

World Health Organization. (1997). World health organizations proposed guidelines on ethical issues in medical genetics and genetics services.

2008 OJIN: The Online Journal of Issues in Nursing Article publishedJanuary 31, 2008

Read this article:
Genetic and Genomic Healthcare: Ethical Issues of ...

Bioindustry: A Description of California's Bioindustry and Summary of the Public Issues Affecting Its Development By Gus A. Koehler, PhD. Return to table of contents There is a rich public debate about how the potential risks associated with biotechnology methods and bioindustry products should be assessed and about whether and how bioethics should influence public policy. A general structure for guiding public policy discourse is emerging but is not fully developed. Groups perceive risks differently depending on their culture, scientific background, perception of government, and other factors. Expert opinion supports a range of positions. 194 Deeply and honestly held but often conflicting beliefs and values about nature, animals, and the community good animate the debate. The result is that biotechnology issues are often highly contentious and debated on both scientific and ethical grounds. Two contemporary examples are:

Biotechnology's risks are sometimes purely conjectural. Without research and clinical trials, risks cannot be fully assessed. Yet conjectural and ethical issues are important because biotechnology affects not only human practices and economic sectors, but also medical practices and the relationship between humanity, animals and the environment. In Paul Thompson's view,

Public Policy Debate

There are many complex and emotionally charged ethical issues that the development of biotechnology poses for the first time or reframes. This paper can only touch on some of them. Federal and state governments are attempting to grapple with these issues and create a framework to deal with them.

Three Federal panels addressed bioethical issues prior to 1983:

These federal panels had a major impact on bioethical debate and risk assessment. For example, the President's Commission:

Except for the National Institutes of Health-Department of Energy Working Group on Ethical, Legal, and Social Implications of the Human Genome Project, bioethical issues have been analyzed since 1983 on an ad hoc basis by temporary panels leading to delayed discussions, restricted scope, and inconsistent policy positions between panels. Congressional attempts to create a new national commission in 1990 to examine bioethical issues were unsuccessful, primarily due to a highly contentious debate over fetal research.

Bioethics examines broad issues such as animal rights and welfare, human testing, and the potential effects of genetically engineered species on other species and the environment. Risk assessments analyze the relative risks posed by possible toxic, pathogenic, and ecological effects of biotechnology and bioindustry. There are three broad analytical approaches to risk assessment:

States and the federal government generally focus on the second approach, the characteristics and environmental risks of the altered organism, and not on the processes used to produce it or on possible natural rights. This "organism-in the environment" approach to risk assessment involves evaluation of any of the following: 199

The science of developing transgenic animals is just beginning. Critics contend that it raises both animal physiological (possible loss of function or generation of deformities) or psychological problems (unacceptable levels of stress or loss of function) and associated ethical issues. A 1989 statement, "Consultation on Respect for Life and the Environment," signed by the National Council of Churches, the Foundation on Economic Trends, and the Center for the Respect of Life and the Environment, called for a moratorium on transgenic animal research. The statement asserted that such technology "portends fundamental changes in the public's perception of, and attitude towards animals, which would be regarded as human creations, inventions, and commodities, rather than God's creation and subjects of nature." 200 For example, during their development transgenic swine had many serious problems:

Should we understand animal well-being to include an animal's entitlement to certain key traits that it would be unethical to select against or to seriously weaken? 202 Should transgenic animal research and use be restricted to certain species? 203 How are each of these questions to be reconciled with potential improvements in human health that could result from such research?

In contrast, the U.S. Department of Agriculture, the Biotechnology Industry Organization, and the American Medical Association argue that the creation of altered animals is medically and economically beneficial for humans and should continue.

Is the legal status of a transgenic animal that is owned by its creating company different from a domesticated animal? How do existing animal welfare statutes (humane treatment) apply to such animals? Each of these issues are magnified by the emerging ability to mass-produce large numbers of bioengineered animals such as genetically identical sheep and cattle that could become a primary source of fiber and food.

The deliberate manipulation of the gene line to achieve desirable human characteristics by altering sperm genes or to inserting genes from other species into human sex cells also has serious ethical implications. For example, is it ethical to make inheritable changes in the human genome affecting the characteristics of individuals that would be born with it? Who has the right to make a genetic therapy decision involving a fetus, children, or other? Should such guidelines extend to fetuses not brought to term for experimental purposes? 204 Some of these issues may be addressed in guidelines being developed by the National Institutes of Health.

In May 1995, a large coalition of religious leaders--Catholic bishops, Protestant and Jewish leaders and groups of Muslims, Hindus and Buddhists--announced its opposition to patents on human and animal life. The coalition did not oppose genetic engineering or biotechnology, but rather patenting human genes or organisms. It contends that such patents violate the sanctity of human life and reduce the "blueprint of evolution" to a marketable commodity. The group argues that life is a gift from God that should be cherished and nurtured. To reduce life to a commodity is to turn it into a product that can be owned and manipulated for profit alone, according to the group. 205

A second broad coalition of U.S. and international indigenous peoples, consumer, environmental, and other non-government groups issued the "Blue Mountain Declaration" in June 1995, declaring, in part,

This group also strongly opposes federal funding for the Human Genome Diversity Project. In particular, it is concerned about gathering samples of human genetic material from indigenous communities around the world. Related issues include ownership of cell lines, informed consent before providing the sample, patenting of genetic sequences, and who should benefit from the sale of related products.

Counter arguments are presented in the patenting (p. 38), human biological materials ownership (p. 41), and human and animal related products (p. 3-1) portions of this paper. These issues are currently under consideration by the courts and various professional organizations. Generally, the trend appears to be in the direction of allowing private ownership of laboratory-created organisms and the continued collection of human genetic material, on the grounds that the results are beneficial to humanity.

Organ transplants and the availability of embryological tissue for research are important and difficult issues for modern medicine. Many lives are prolonged or saved every year through organ transplants. The National Organ Transplantation Act prohibits the sale of human tissue and organs for transplantation. This prohibition does not apply to non-transplantation purposes, including the sale of organs and other parts, such as embryological tissue, for research. 207

Fetal organs and tissue are believed by some researchers to be essential to research that might lead to alleviation of Parkinson's disease, diabetes, and other serious illnesses.

The federal government banned federally funded human embryology research for 15 years, (1979 to 1994), although some research continued with private funding. President Clinton has ordered that no federal funds be spent on embryos created for research. 208 However, the order did not specifically forbid support for research on human embryos.

The National Institutes of Health convened an ad hoc Human Embryo Research Panel to examine the issue of embryo research. In 1994, the panel found that such research could make substantial contributions and agreed that pre-implantation embryos should receive serious moral consideration but not to the same degree as infants and children. The panel restricted its attention to research on pre-implantation embryos, or multi-cell clusters that are less than 14 days old and that are without a definite nerve system. The panel recommended an advisory process similar to that being followed for gene therapy, and contended that federal funding would help to establish consistent public review of the research. 209

Researchers obtain fetal tissue from hospitals and clinics. Some clinics have developed an informed consent form for patients giving permission to use fetal tissue from an aborted fetus for research or organ transplant. However, one author contends that, "there has been virtually no effective policing of fetal organ harvesting by the federal government or any state agency," and that such appears unlikely. 210

Animal to Human Organ Transplants

The area of organ transplants from animals to humans is developing so rapidly that the National Academy of Science's Institute of Medicine has created a committee to examine the practice. 211 Issues that the Institute will examine include, "How to protect the rights of the first 'pioneer' patients? How to prevent the introduction of dangerous animal pathogens into the human population? And will the public find the idea of transplanting animal organs into humans acceptable?" 212

The FDA has also expressed concerns about animal-to-human transplants. Transplants might allow dangerous pathogens in animals to enter humans. Researchers plan to screen tissues for known viruses and to monitor recipients for infectious disease. However, screening for known viruses may not be adequate to apprehend new pathogens. The FDA wants stricter safeguards that could include improved tests for pathogens, protocols to quarantine patients, and the creation of colonies of "clean" animals. 213

Bioethics and Human Diagnostics

Testing for genetic defects is generally considered to be helpful and to increase possible treatment options. The issue becomes much more complex when genetic information has implications for reproductive choice or portends an unhealthy future for a currently healthy person (for example, having a mastectomy to prevent the potential future occurrence of a genetically-based cancer). Related issues include: disclosure of a genetic defect; availability and affordability of genetic counseling and health insurance; and employee screening. Screening for genetic diseases is controlled by the National Genetic Diseases Act, which provides for research, screening, counseling, and professional education for people with Tay-Sachs disease, Cystic Fibrosis, Huntington's disease, and a number of other conditions in which genetic mutations may be involved.

The use of genetic testing in the workplace can involve genetic screening or genetic monitoring. Screening involves a one-time test to detect a pre-existing trait in a worker or job applicant. Genetic monitoring involves multiple tests of a worker over time to determine if an occupational exposure has induced a genetic change. In 1989 five percent of the Fortune 500 companies surveyed either were using or had used employee genetic monitoring. [214] Genetic monitoring is reliable at the population level, not the individual employee level. There are three principal issues: [215]

The implementation of genetic testing can affect job applicants and workers, employers, and society differently. The impact varies according to whether the test performed is for genetic monitoring for chromosomal damage due to workplace conditions, genetic screening for susceptibilities to occupational illness, or genetic screening for inherited conditions or traits unrelated to the workplace but that could affect health insurance costs. Employees may wish to be genetically tested to track their health status but be concerned that the information could be used to remove them from the workplace, to deny insurance or keep them from being hired. On the other hand, employers contend that they need such information for hiring purposes and may wish to use genetic screening tests, establish conditions for employee participation, and implement consequences. Such employer practices are consistent with existing pre-employment medical testing practices. The Office of Technology Assessment (OTA), after a review of the issues involved, found:

Federal legislation (including the Occupational Safety and Health Act, the Rehabilitation Act of 1973, Title VI of the Civil Rights Act of 1964, the National Labor Relations Act, and the Americans with Disabilities Act) provides some protections against genetic testing and screening abuses, particularly against unilateral employer imposition of genetic monitoring and screening, discrimination, and breaches in confidentiality. States have also been active in this area, adopting legislation concerning genetic screening and employment. [217]

The ability to test for possible inherited tendencies such as high blood pressure and other heart-related diseases, diabetes, and cancer has important implications for access to health insurance. Health insurance could become too expensive for some people. In the 1970s some people were denied insurance, charged higher premiums, or denied jobs because they tested positive as carriers of sickle cell anemia (a genetic condition inherited by some African Americans). 218 More recent studies have documented cases of genetic descrimination against healthy persons with a gene that predisposes them or their children to an illness. "In a recent survey of people with a known genetic condition in the family, 22% indicated that they had been refused health insurance coverage because of their genetic status, whether they were sick or not." 219

Genetic information is already requested on health insurance applications. According to a 1992 OTA survey:

Thirteen states have passed genetic testing laws. 221 Most of the laws are narrowly drawn and attempt to prevent discrimination such as denial of insurance or employment because of a genetically identified disease. For example, an Ohio law prohibits insurers from requiring potential clients to submit to genetic tests as a condition of coverage. 222 Recent state actions regarding genetic testing include: 223

In a related decision, "...the U.S. Equal Employment Opportunity Commission has concluded that healthy people carrying abnormal genes are protected against employment discrimination by the Americans with Disabilities Act." 224 The decision seems to limit the use of genetic screening. California Department of Fair Employment and Housing regulations protect employees who have an increased likelihood of developing a physical handicap, but it is not clear whether this rule applies to genetic monitoring.

In January 1995, a new California law took effect prohibiting health insurers from discriminating against an applicant by increasing rates because of genetic traits when the person has no symptoms of any disease or disorder. Insurance companies are also prohibited from requesting or providing genetic information without prior authorization. Chaptered legislation introduced by Senator Johnston in the 1995 session (SB 1020) extends this provision by prohibiting insurance companies from requiring a higher rate or charge or offering or providing different terms, conditions, or benefits on the basis of a person's genetic characteristics. SB 970 (Johnston, 1995) would expand the definition of medical condition under the Department of Fair Employment and Housing to include discrimination against people who have an increased likelihood of developing a physical handicap due to genetic problems.

Federal law limits state protection against insurance coverage genetic discrimination. Self-funded insurance plans are exempted from state law by the federal Employee Retirement Income Security Act. Nationally, about one-third of the non-elderly insured are covered by such plans. In addition, most state laws prohibit discrimination based on genetic tests carried out in a laboratory. However these laws often do not extend that protection to use of genetic information gathered by other methods that trace genetic inheritance or to disclosure of a request to have a genetic test. 225

Recently, the National Action Plan on Breast Cancer and the Working Group on Ethical, Legal, and Social Implications of the Human Genome Project developed a set of recommendations and definitions for state policy makers to protect against genetic discrimination. 226

Genetic counseling services are important to individuals and families for understanding the results of genetic tests. These services also face serious ethical dilemmas. For example, a parent may refuse to share a diagnosis of an inherited tendency for colon cancer with the family, including the children. To honor the patient's request might harm the rest of the family. 227

In 1993, a panel of the National Academy of Sciences concluded that federal oversight of gene testing needs to be improved. 228 The Health Care Financing Administration and the Food and Drug Administration are both responsible for ensuring the quality of testing in commercial laboratories. Currently the Health Care Financing Administration has no specific standards for laboratories that analyze DNA, and inspectors are not trained to evaluate the appropriate execution of DNA tests. The Food and Drug Administration requires that manufacturers obtain approval before marketing laboratory test kits and that laboratories offering experimental genetic tests be cleared and approved by the FDA. 229s

The field testing and release of genetically engineered plants and crops remains controversial but is widespread. Small-scale field tests of genetically-engineered crops have been under way in the U.S. for almost six years. Regulatory standards have been developed, and crops approved for testing and release. Since 1987, the U.S. Department of Agriculture has approved more than 860 applications and notifications to field-test transgenic crops. 230 More than 1,025 field tests of genetically modified plants were conducted in 32 countries between 1986 and 1993. Thirty-eight different plant species with nearly 200 different engineered properties have been tested in the field to date. By the year 2000, there may be as many as 400 different, economically important genetically modified plants under field evaluation. 231

As noted above, the USDA has recently expedited approvals for field-test permits. In 1995, the EPA approved the first pesticidal transgenic plants (corn, potato, and cotton plants) for "limited" commercialization. Approval for full scale production is expected by 1996. 232

The U.S. National Academy of Sciences concluded in 1987, "There is no evidence of the existence of unique hazards either in the use of RDNA techniques or in the movement of genes between unrelated organisms." 233 The U.S. National Research Council agreed: "No conceptual distinction exists between genetic modification of plants and microorganisms by classical methods or by molecular techniques that modify DNA and transfer genes," whether in the laboratory, in the field, or in large-scale environmental introductions. 234

The EPA,

Nevertheless, there is still considerable public disagreement over the implications of introducing genetically-engineered species into the environment for testing or commercial purposes. Critics have been successful at obtaining court injunctions to stop the release of biological materials into the environment. Some scientists and ecologists claim that unlike risk assessment for synthetic chemicals, "there is no commensurate methodology for assessing the risks of released organisms." 236 However, the overall likelihood of harm could rise as the number and variety of crop releases increase. If a problem occurs it could be high-risk with long-term unexpected consequences. Among the possibilities:

There is preliminary evidence that seems to support some of these concerns. Some exchanges of genetic information between plants in the field may occur by way of bacteria 237 or viruses:

Other scientists believe that the problem may not be significant, as "the potential benefits of engineered resistance genes far outweigh the vanishingly small risk of creating new and harmful viruses." 239

In some cases, a permit must be obtained from the USDA to begin limited field testing. The review often includes assessment of whether the product meets federal environmental-assessment standards and the environmental requirements of the Plant Pest Act. The EPA has developed guidelines for evaluating modified microorganisms under the Toxic Substances Control Act and for small-scale field testing of plants that produce pesticides under the Federal Insecticide, Fungicide, and Rodenticide Act. 240 These processes are considered by the respective agencies and industry to be more than adequate for evaluating new organisms, detecting any viral recombination that might create new, potentially high-risk viruses, 241 and for field testing pesticide producing plants.

Regulatory decisions on field testing seriously affect research agendas. For example, after the Environmental Protection Agency refused Monsanto's request to field test a new genetically engineered bacterium to improve plant resistance to frost, the company dismantled its entire research program on microbial biocontrol agents. (Monsanto remains very involved in other biotechnology research areas.) 242

Some ecologists remain concerned about the need for additional information beyond that required by the USDA and EPA on a species' ability to survive, proliferate, and disperse in nature, and about the potential for genetic exchange of materials between species. 243 One analysis concludes,

Jack Dekker and Gary Comstock, of Iowa State University, propose that ethical and technical criteria be developed and included in the regulatory process to address the issue:

Existing field experiments have not resolved the debate. There are conflicting studies with differing answers. These findings show just how complex and unresolved the issue is. For example, one research effort found that transgenic sugar beets could transfer genes to weed relatives. Other evidence indicates that viral RNA or DNA inserted in a plant to make it virus-resistant may combine with genetic material from an invading virus to form new, more virulent strains. But, recent work on the transgenic squash has "found no evidence that wild squash have bred with transgenic plants to form virus-resistant wild squash." 246 Despite concerns expressed by some observers, scientists consider it highly unlikely that the squash's wild relatives could obtain genetically engineered benefits from commercial relatives or that "novel recombinant viruses could crop up from [squashes] infected by wild viruses." 247 It might take a number of unlikely conditions occurring in the environment before new or damaging recombinant viruses could spread. 248 A more recent Danish study found that a commercial crop called oil seed rape containing a herbicide resistant gene can cross-fertilize with a weed called Brassica Campetris. Both plants are from the same mustard family. 249 The bioengineered gene is present in the crossbreeds and is passed on to subsequent generations.

Large scale plantings of transgenic crops might resolve some of these questions:

According to a report in Science, "Chinese scientists have recently launched massive field trials of transgenic tobacco, tomatoes, and rice on thousands of hectares." 251 Scientists in developing countries who are faced with food production problems may take more risks than others, the report notes. 252

Recent research also raises questions about the adequacy of models used to predict the dispersion of genetically engineered plants into the environment.

The possible accidental release of potentially damaging organisms into the environment extends to other organisms as well. For example, efforts by Australian scientists to restrict a deadly virus (used in experiments against wildly proliferating European rabbits) to an off coast island failed. "Officials foresaw little possibility of the virus's escaping from the island, but escape it did." 254

There are inherent conflicts involved in how biotechnology develops as an industry and the way ethical questions and public policy positions are discussed and adopted. Key factors include, for example:

The conflict between the ethical issues that emerge as research proceeds and discoveries are made, and the time and other pressures to immediately move products to the market place create public policy issues that cannot be easily resolved for a number of complex and interacting reasons:

Potential health, economic, and business benefits are huge. The potential human and financial rewards that could emerge from curing serious diseases, increasing the food supply, and substantially extending and improving the quality of human life are very large. It is this possibility that drives researchers, investors, and potential benefactors.

Biotechnology/bioethical issues are not simple. The underlying science is complex, as are the resulting issues. Bioethics is a new field that is developing right along with biotechnology.

It is difficult to know which biotechnology-induced changes in an organism or production technology might result in large scale social or economic changes. The often new relationship of the discovery to the greater environment, human health, marketplace, and to future generations is unknown. The law of unintended consequences is a major concern.

Measurements of the socio-economic and market effects of a new technology are hard to make. Methods for measuring expected human, ecological, industrial, and financial risks, short and long term costs/benefits, and other relevant factors are just being developed. It may be particularly difficult to estimate the long terms costs of biotechnology innovations, given their often unpredictable effects.

There is pressure to achieve immediate short term economic gains that might have essentially unknowable long-term effects. For example, patenting corn, rice, potatoes and wheat and the accompanying farming and marketing methods might reorder the entire agricultural industry and rural life.

Issues are set within conflicting time horizons and value systems. Research and marketing time horizons are relatively short, emphasizing immediate financial pay-off and scientific prestige. In contrast, bioethics and public policy questions often involve a long-term time horizon (generations of people), whole systems (ecological or industry), and the quality of individual and community life.

The definition of what "safe" means and how to evaluate an acceptable level of risk is still evolving. For example, how should manufacturers label bioengineered products and other products that may use genes inserted from plants to which people might be allergic? The large scale availability of genetic testing and its implications for the workplace and for inherited health problems are issues that are just now being addressed.

There is strong competitive pressure to go forward with new and potentially risky technology in a global market. European, Asian and other nations are fiercely competing with each other to develop and dominate a segment of the biotechnology industry, if not the industry itself. As noted, China (page 61), has already embarked on a series of field tests that would probably not be approved in the West.

Next Chapter: Business Needs of Biotechnology

Return to table of contents

Link:
Ethical Issues and Risk Assessment in Biotechnology

Feature HHS announces proposal to update rules governing research on study participant

Medical advances wouldn't be possible without individuals willing to volunteer to participate in research. Today's proposed changes to the Common Rule for protecting human research participants would update safeguards for participants and reduce unnecessary administrative burdens. For more information and details on providing comments on the proposed rule, go to: HHS News Release Read the Notice of Proposed Rulemaking [federalregister.gov]

The use of human subjects in the field of genomics raises a number of key policy considerations that are being addressed at NHGRI and elsewhere. Learn more about his important topic with a new fact sheet from the Policy and Program Analysis Branch. Read more

NIH has issued a position statement on the use of public or private cloud systems for storing and analyzing controlled-access genomic data under the NIH Genomic Data Sharing (GDS) Policy. Read the Position Statement

This fall, Cari Young, Sc.M., and Julie Nadel, Ph.D., will join the National Human Genome Research Institute as American Society of Human Genetics (ASHG)/National Human Genome Research Institute (NHGRI) education and public policy fellows. Ms. Young will spend time working with NHGRI's Policy and Program Analysis Branch, while Dr. Nadel will direct her talents to the Education and Community Involvement Branch. Both credit their high school biology classes with inspiring the direction of their careers. Read more

Last Updated: September 17, 2015

Follow this link:
Policy & Ethics - Issues in Genetics

Pre-implantation genetic diagnosis (PGD or PIGD) refers to genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective pregnancy termination as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation. The term preimplantation genetic screening (PGS) is used to denote procedures that do not look for a specific disease but use PGD techniques to identify embryos at risk. The PGD allows studying the DNA of eggs or embryos to select those that carry certain damaging characteristics. It is useful when there are previous chromosomal or genetic disorders in the family and within the context of in vitro fertilization programs. [1]

The procedures may also be called preimplantation genetic profiling to adapt to the fact that they are sometimes used on oocytes or embryos prior to implantation for other reasons than diagnosis or screening.[2]

Procedures performed on sex cells before fertilization may instead be referred to as methods of oocyte selection or sperm selection, although the methods and aims partly overlap with PGD.

In 1967, Robert Edwards and Richard Gardner reported the successful identification of the sex of rabbit blastocysts.[3] It was not until the 1980s that human IVF was fully developed, which coincided with the breakthrough of the highly sensitive polymerase chain reaction (PCR) technology. Handyside and collaborators' first successful tests happened in October 1989, with the first births in 1990[4] though the preliminary experiments had been published some years earlier.[5][6] In these first cases, PCR was used for sex determination of patients carrying X-linked diseases.

PGD became increasingly popular during the 1990s when it was used to determine a handful of severe genetic disorders, such as sickle-cell anemia, Tay Sachs disease, Duchennes muscular dystrophy, and Beta-thalassemia.[7]

As with all medical interventions associated with human reproduction, PGD raises strong, often conflicting opinions of social acceptability, particularly due to its eugenic implications. In some countries, such as Germany,[8] PGD is permitted for only preventing stillbirths and genetic diseases, in other countries PGD is permitted in law but its operation is controlled by the state.[clarification needed]

PGD can potentially be used to select embryos to be without a genetic disorder, to have increased chances of successful pregnancy, to match a sibling in HLA type in order to be a donor, to have less cancer predisposition, and for sex selection.

PGD is available for a large number of monogenic disorders that is, disorders due to a single gene only (autosomal recessive, autosomal dominant or X-linked) or of chromosomal structural aberrations (such as a balanced translocation). PGD helps these couples identify embryos carrying a genetic disease or a chromosome abnormality, thus avoiding diseased offspring. The most frequently diagnosed autosomal recessive disorders are cystic fibrosis, Beta-thalassemia, sickle cell disease and spinal muscular atrophy type 1. The most common dominant diseases are myotonic dystrophy, Huntington's disease and Charcot-Marie-Tooth disease; and in the case of the X-linked diseases, most of the cycles are performed for fragile X syndrome, haemophilia A and Duchenne muscular dystrophy. Though it is quite infrequent, some centers report PGD for mitochondrial disorders or two indications simultaneously.

PGD is also now being performed in a disease called Hereditary multiple exostoses (MHE/MO/HME).

In addition, there are infertile couples who carry an inherited condition and who opt for PGD as it can be easily combined with their IVF treatment.

Preimplantation genetic profiling (PGP) has been suggested as a method to determine embryo quality in in vitro fertilization, in order to select an embryo that appears to have the greatest chances for successful pregnancy. However, as the results of PGP rely on the assessment of a single cell, PGP has inherent limitations as the tested cell may not be representative of the embryo because of mosaicism.[9]

A systematic review and meta-analysis of existing randomized controlled trials came to the result that there is no evidence of a beneficial effect of PGP as measured by live birth rate.[9] On the contrary, for women of advanced maternal age, PGP significantly lowers the live birth rate.[9] Technical drawbacks, such as the invasiveness of the biopsy, and chromosomal mosaicism are the major underlying factors for inefficacy of PGP.[9]

Alternative methods to determine embryo quality for prediction of pregnancy rates include microscopy as well as profiling of RNA and protein expression.

Human leukocyte antigen (HLA) typing of embryos, so that the child's HLA matches a sick sibling, availing for cord-blood stem cell donation.[10] The child is in this sense a "savior sibling" for the recipient child. HLA typing has meanwhile become an important PGD indication in those countries where the law permits it.[11] The HLA matching can be combined with the diagnosis for monogenic diseases such as Fanconi anaemia or beta thalassemia in those cases where the ailing sibling is affected with this disease, or it may be exceptionally performed on its own for cases such as children with leukaemia. The main ethical argument against is the possible exploitation of the child, although some authors maintain that the Kantian imperative is not breached since the future donor child will not only be a donor but also a loved individual within the family.

A more recent application of PGD is to diagnose late-onset diseases and (cancer) predisposition syndromes. Since affected individuals remain healthy until the onset of the disease, frequently in the fourth decade of life, there is debate on whether or not PGD is appropriate in these cases. Considerations include the high probability of developing the disorders and the potential for cures. For example, in predisposition syndromes, such as BRCA mutations which predispose the individual to breast cancer, the outcomes are unclear. Although PGD is often regarded as an early form of prenatal diagnosis, the nature of the requests for PGD often differs from those of prenatal diagnosis requests made when the mother is already pregnant. Some of the widely accepted indications for PGD would not be acceptable for prenatal diagnosis.

Preimplantation genetic diagnosis provides a method of prenatal sex discernment even before implantation, and may therefore be termed preimplantation sex discernment. Potential applications of preimplantation sex discernment include:

In the case of families at risk for X-linked diseases, patients are provided with a single PGD assay of gender identification. Gender selection offers a solution to individuals with X-linked diseases who are in the process of getting pregnant. The selection of a female embryo offspring is used in order to prevent the transmission of X-linked Mendelian recessive diseases. Such X-linked Mendelian diseases include Duchenne muscular dystrophy (DMD), and hemophilia A and B, which are rarely seen in females because the offspring is unlikely to inherit two copies of the recessive allele. Since two copies of the mutant X allele are required for the disease to be passed on to the female offspring, females will at worst be carriers for the disease but may not necessarily have a dominant gene for the disease. Males on the other hand only require one copy of the mutant X allele for the disease to occur in one's phenotype and therefore, the male offspring of a carrier mother has a 50% chance of having the disease. Reasons may include the rarity of the condition or because affected males are reproductively disadvantaged. Therefore, medical uses of PGD for selection of a female offspring to prevent the transmission of X-linked Mendelian recessive disorders are often applied. Preimplantation genetic diagnosis applied for gender selection can be used for non-Mendelian disorders that are significantly more prevalent in one sex. Three assessments are made prior to the initiation of the PGD process for the prevention of these inherited disorders. In order to validate the use of PGD, gender selection is based on the seriousness of the inherited condition, the risk ratio in either sex, or the options for disease treatment.[12]

A 2006 survey reveals that PGD has occasionally been used to select an embryo for the presence of a particular disease or disability, such as deafness, in order that the child would share that characteristic with the parents.[2]

PGD is a form of genetic diagnosis performed prior to implantation. This implies that the patients oocytes should be fertilized in vitro and the embryos kept in culture until the diagnosis is established. It is also necessary to perform a biopsy on these embryos in order to obtain material on which to perform the diagnosis. The diagnosis itself can be carried out using several techniques, depending on the nature of the studied condition. Generally, PCR-based methods are used for monogenic disorders and FISH for chromosomal abnormalities and for sexing those cases in which no PCR protocol is available for an X-linked disease. These techniques need to be adapted to be performed on blastomeres and need to be thoroughly tested on single-cell models prior to clinical use. Finally, after embryo replacement, surplus good quality unaffected embryos can be cryopreserved, to be thawed and transferred back in a next cycle.

Currently, all PGD embryos are obtained by assisted reproductive technology, although the use of natural cycles and in vivo fertilization followed by uterine lavage was attempted in the past and is now largely abandoned. In order to obtain a large group of oocytes, the patients undergo controlled ovarian stimulation (COH). COH is carried out either in an agonist protocol, using gonadotrophin-releasing hormone (GnRH) analogues for pituitary desensitisation, combined with human menopausal gonadotrophins (hMG) or recombinant follicle stimulating hormone (FSH), or an antagonist protocol using recombinant FSH combined with a GnRH antagonist according to clinical assessment of the patients profile (age, body mass index (BMI), endocrine parameters). hCG is administered when at least three follicles of more than 17mm[verification needed] mean diameter are seen at transvaginal ultrasound scan. Transvaginal ultrasound-guided oocyte retrieval is scheduled 36 hours after hCG administration. Luteal phase supplementation consists of daily intravaginal administration of 600g of natural micronized progesterone.

Oocytes are carefully denudated from the cumulus cells, as these cells can be a source of contamination during the PGD if PCR-based technology is used. In the majority of the reported cycles, intracytoplasmic sperm injection (ICSI) is used instead of IVF. The main reasons are to prevent contamination with residual sperm adhered to the zona pellucida and to avoid unexpected fertilization failure. The ICSI procedure is carried out on mature metaphase-II oocytes and fertilization is assessed 1618 hours after. The embryo development is further evaluated every day prior to biopsy and until transfer to the womans uterus. During the cleavage stage, embryo evaluation is performed daily on the basis of the number, size, cell-shape and fragmentation rate of the blastomeres. On day 4, embryos were scored in function of their degree of compaction and blastocysts were evaluated according to the quality of the throphectoderm and inner cell mass, and their degree of expansion.

As PGD can be performed on cells from different developmental stages, the biopsy procedures vary accordingly. Theoretically, the biopsy can be performed at all preimplantation stages, but only three have been suggested: on unfertilised and fertilised oocytes (for polar bodies, PBs), on day three cleavage-stage embryos (for blastomeres) and on blastocysts (for trophectoderm cells).

The biopsy procedure always involves two steps: the opening of the zona pellucida and the removal of the cell(s). There are different approaches to both steps, including mechanical, chemical, and physical (Tyrodes acidic solution) and laser technology for the breaching of the zona pellucida, extrusion or aspiration for the removal of PBs and blastomeres, and herniation of the trophectoderm cells.

A polar body biospy is the sampling of a polar body, which is a small haploid cell that is formed concomitantly as an egg cell during oogenesis, but which generally does not have the ability to be fertilized. Compared to a blastocyst biopsy, a polar body biopsy can potentially be of lower costs, less harmful side-effects, and more sensitive in detecting abnormalities.[13] The main advantage of the use of polar bodies in PGD is that they are not necessary for successful fertilisation or normal embryonic development, thus ensuring no deleterious effect for the embryo. One of the disadvantages of PB biopsy is that it only provides information about the maternal contribution to the embryo, which is why cases of autosomal dominant and X-linked disorders that are maternally transmitted can be diagnosed, and autosomal recessive disorders can only partially be diagnosed. Another drawback is the increased risk of diagnostic error, for instance due to the degradation of the genetic material or events of recombination that lead to heterozygous first polar bodies.

Cleavage-stage biopsy is generally performed the morning of day three post-fertilization, when normally developing embryos reach the eight-cell stage. The biopsy is usually performed on embryos with less than 50% of anucleated fragments and at an 8-cell or later stage of development. A hole is made in the zona pellucida and one or two blastomeres containing a nucleus are gently aspirated or extruded through the opening. The main advantage of cleavage-stage biopsy over PB analysis is that the genetic input of both parents can be studied. On the other hand, cleavage-stage embryos are found to have a high rate of chromosomal mosaicism, putting into question whether the results obtained on one or two blastomeres will be representative for the rest of the embryo. It is for this reason that some programs utilize a combination of PB biopsy and blastomere biopsy. Furthermore, cleavage-stage biopsy, as in the case of PB biopsy, yields a very limited amount of tissue for diagnosis, necessitating the development of single-cell PCR and FISH techniques. Although theoretically PB biopsy and blastocyst biopsy are less harmful than cleavage-stage biopsy, this is still the prevalent method. It is used in approximately 94% of the PGD cycles reported to the ESHRE PGD Consortium. The main reasons are that it allows for a safer and more complete diagnosis than PB biopsy and still leaves enough time to finish the diagnosis before the embryos must be replaced in the patients uterus, unlike blastocyst biopsy. Of all cleavage-stages, it is generally agreed that the optimal moment for biopsy is at the eight-cell stage. It is diagnostically safer than the PB biopsy and, unlike blastocyst biopsy, it allows for the diagnosis of the embryos before day 5. In this stage, the cells are still totipotent and the embryos are not yet compacting. Although it has been shown that up to a quarter of a human embryo can be removed without disrupting its development, it still remains to be studied whether the biopsy of one or two cells correlates with the ability of the embryo to further develop, implant and grow into a full term pregnancy.

Not all methods of opening the zona pellucida have the same success rate because the well-being of the embryo and/or blastomere may be impacted by the procedure used for the biopsy. Zona drilling with acid Tyrodes solution (ZD) was looked at in comparison to partial zona dissection (PZD) to determine which technique would lead to more successful pregnancies and have less of an effect on the embryo and/or blastomere. ZD uses a digestive enzyme like pronase which makes it a chemical drilling method. The chemicals used in ZD may have a damaging effect on the embryo. PZD uses a glass microneedle to cut the zona pellucida which makes it a mechanical dissection method that typically needs skilled hands to perform the procedure. In a study that included 71 couples, ZD was performed in 26 cycles from 19 couples and PZD was performed in 59 cycles from 52 couples. In the single cell analysis, there was a success rate of 87.5% in the PZD group and 85.4% in the ZD group. The maternal age, number of oocytes retrieved, fertilization rate, and other variables did not differ between the ZD and PZD groups. It was found that PZD led to a significantly higher rate of pregnancy (40.7% vs 15.4%), ongoing pregnancy (35.6% vs 11.5%), and implantation (18.1% vs 5.7%) than ZD. This suggests that using the mechanical method of PZD in blastomere biopsies for preimplantation genetic diagnosis may be more proficient than using the chemical method of ZD. The success of PZD over ZD could be attributed to the chemical agent in ZD having a harmful effect on the embryo and/or blastomere. Currently, zona drilling using a laser is the predominant method of opening the zona pellucida. Using a laser is an easier technique than using mechanical or chemical means. However, laser drilling could be harmful to the embryo and it is very expensive for in vitro fertilization laboratories to use especially when PGD is not a prevalent process as of modern times. PZD could be a viable alternative to these issues.[14]

In an attempt to overcome the difficulties related to single-cell techniques, it has been suggested to biopsy embryos at the blastocyst stage, providing a larger amount of starting material for diagnosis. It has been shown that if more than two cells are present in the same sample tube, the main technical problems of single-cell PCR or FISH would virtually disappear. On the other hand, as in the case of cleavage-stage biopsy, the chromosomal differences between the inner cell mass and the trophectoderm (TE) can reduce the accuracy of diagnosis, although this mosaicism has been reported to be lower than in cleavage-stage embryos.

TE biopsy has been shown to be successful in animal models such as rabbits,[15] mice[16] and primates.[17] These studies show that the removal of some TE cells is not detrimental to the further in vivo development of the embryo.

Human blastocyst-stage biopsy for PGD is performed by making a hole in the ZP on day three of in vitro culture. This allows the developing TE to protrude after blastulation, facilitating the biopsy. On day five post-fertilization, approximately five cells are excised from the TE using a glass needle or laser energy, leaving the embryo largely intact and without loss of inner cell mass. After diagnosis, the embryos can be replaced during the same cycle, or cryopreserved and transferred in a subsequent cycle.

There are two drawbacks to this approach, due to the stage at which it is performed. First, only approximately half of the preimplantation embryos reach the blastocyst stage. This can restrict the number of blastocysts available for biopsy, limiting in some cases the success of the PGD. Mc Arthur and coworkers[18] report that 21% of the started PGD cycles had no embryo suitable for TE biopsy. This figure is approximately four times higher than the average presented by the ESHRE PGD consortium data, where PB and cleavage-stage biopsy are the predominant reported methods. On the other hand, delaying the biopsy to this late stage of development limits the time to perform the genetic diagnosis, making it difficult to redo a second round of PCR or to rehybridize FISH probes before the embryos should be transferred back to the patient.

Sampling of cumulus cells can be performed in addition to a sampling of polar bodies or cells from the embryo. Because of the molecular interactions between cumulus cells and the oocyte, gene expression profiling of cumulus cells can be performed to estimate oocyte quality and the efficiency of an ovarian hyperstimulation protocol, and may indirectly predict aneuploidy, embryo development and pregnancy outcomes.[19][19]

Fluorescent in situ hybridization (FISH) and Polymerase chain reaction (PCR) are the two commonly used, first-generation technologies in PGD. PCR is generally used to diagnose monogenic disorders and FISH is used for the detection of chromosomal abnormalities (for instance, aneuploidy screening or chromosomal translocations). Over the past few years, various advancements in PGD testing have allowed for an improvement in the comprehensiveness and accuracy of results available depending on the technology used.[20] Recently a method was developed allowing to fix metaphase plates from single blastomeres. This technique in conjunction with FISH, m-FISH can produce more reliable results, since analysis is done on whole metaphase plates[21]

In addition to FISH and PCR, single cell genome sequencing is being tested as a method of preimplantation genetic diagnosis.[22] This characterizes the complete DNA sequence of the genome of the embryo.

FISH is the most commonly applied method to determine the chromosomal constitution of an embryo. In contrast to karyotyping, it can be used on interphase chromosomes, so that it can be used on PBs, blastomeres and TE samples. The cells are fixated on glass microscope slides and hybridised with DNA probes. Each of these probes are specific for part of a chromosome, and are labelled with a fluorochrome. Currently, a large panel of probes are available for different segments of all chromosomes, but the limited number of different fluorochromes confines the number of signals that can be analysed simultaneously.

The type and number of probes that are used on a sample depends on the indication. For sex determination (used for instance when a PCR protocol for a given X-linked disorder is not available), probes for the X and Y chromosomes are applied along with probes for one or more of the autosomes as an internal FISH control. More probes can be added to check for aneuploidies, particularly those that could give rise to a viable pregnancy (such as a trisomy 21). The use of probes for chromosomes X, Y, 13, 14, 15, 16, 18, 21 and 22 has the potential of detecting 70% of the aneuploidies found in spontaneous abortions.

In order to be able to analyse more chromosomes on the same sample, up to three consecutive rounds of FISH can be carried out. In the case of chromosome rearrangements, specific combinations of probes have to be chosen that flank the region of interest. The FISH technique is considered to have an error rate between 5 and 10%.

The main problem of the use of FISH to study the chromosomal constitution of embryos is the elevated mosaicism rate observed at the human preimplantation stage. A meta-analysis of more than 800 embryos came to the result that approximately 75% of preimplantation embryos are mosaic, of which approximately 60% are diploidaneuploid mosaic and approximately 15% aneuploid mosaic.[23] Li and co-workers[24] found that 40% of the embryos diagnosed as aneuploid on day 3 turned out to have a euploid inner cell mass at day 6. Staessen and collaborators found that 17.5% of the embryos diagnosed as abnormal during PGS, and subjected to post-PGD reanalysis, were found to also contain normal cells, and 8.4% were found grossly normal.[25] As a consequence, it has been questioned whether the one or two cells studied from an embryo are actually representative of the complete embryo, and whether viable embryos are not being discarded due to the limitations of the technique.

Kary Mullis conceived PCR in 1985 as an in vitro simplified reproduction of the in vivo process of DNA replication. Taking advantage of the chemical properties of DNA and the availability of thermostable DNA polymerases, PCR allows for the enrichment of a DNA sample for a certain sequence. PCR provides the possibility to obtain a large quantity of copies of a particular stretch of the genome, making further analysis possible. It is a highly sensitive and specific technology, which makes it suitable for all kinds of genetic diagnosis, including PGD. Currently, many different variations exist on the PCR itself, as well as on the different methods for the posterior analysis of the PCR products.

When using PCR in PGD, one is faced with a problem that is inexistent in routine genetic analysis: the minute amounts of available genomic DNA. As PGD is performed on single cells, PCR has to be adapted and pushed to its physical limits, and use the minimum amount of template possible: which is one strand. This implies a long process of fine-tuning of the PCR conditions and a susceptibility to all the problems of conventional PCR, but several degrees intensified. The high number of needed PCR cycles and the limited amount of template makes single-cell PCR very sensitive to contamination. Another problem specific to single-cell PCR is the allele drop out (ADO) phenomenon. It consists of the random non-amplification of one of the alleles present in a heterozygous sample. ADO seriously compromises the reliability of PGD as a heterozygous embryo could be diagnosed as affected or unaffected depending on which allele would fail to amplify. This is particularly concerning in PGD for autosomal dominant disorders, where ADO of the affected allele could lead to the transfer of an affected embryo.

The establishment of a diagnosis in PGD is not always straightforward. The criteria used for choosing the embryos to be replaced after FISH or PCR results are not equal in all centres. In the case of FISH, in some centres only embryos are replaced that are found to be chromosomally normal (that is, showing two signals for the gonosomes and the analysed autosomes) after the analysis of one or two blastomeres, and when two blastomeres are analysed, the results should be concordant. Other centres argue that embryos diagnosed as monosomic could be transferred, because the false monosomy (i.e. loss of one FISH signal in a normal dipoloid cell) is the most frequently occurring misdiagnosis. In these cases, there is no risk for an aneuploid pregnancy, and normal diploid embryos are not lost for transfer because of a FISH error. Moreover, it has been shown that embryos diagnosed as monosomic on day 3 (except for chromosomes X and 21), never develop to blastocyst, which correlates with the fact that these monosomies are never observed in ongoing pregnancies.

Diagnosis and misdiagnosis in PGD using PCR have been mathematically modelled in the work of Navidi and Arnheim and of Lewis and collaborators.[26][27] The most important conclusion of these publications is that for the efficient and accurate diagnosis of an embryo, two genotypes are required. This can be based on a linked marker and disease genotypes from a single cell or on marker/disease genotypes of two cells. An interesting aspect explored in these papers is the detailed study of all possible combinations of alleles that may appear in the PCR results for a particular embryo. The authors indicate that some of the genotypes that can be obtained during diagnosis may not be concordant with the expected pattern of linked marker genotypes, but are still providing sufficient confidence about the unaffected genotype of the embryo. Although these models are reassuring, they are based on a theoretical model, and generally the diagnosis is established on a more conservative basis, aiming to avoid the possibility of misdiagnosis. When unexpected alleles appear during the analysis of a cell, depending on the genotype observed, it is considered that either an abnormal cell has been analysed or that contamination has occurred, and that no diagnosis can be established. A case in which the abnormality of the analysed cell can be clearly identified is when, using a multiplex PCR for linked markers, only the alleles of one of the parents are found in the sample. In this case, the cell can be considered as carrying a monosomy for the chromosome on which the markers are located, or, possibly, as haploid. The appearance of a single allele that indicates an affected genotype is considered sufficient to diagnose the embryo as affected, and embryos that have been diagnosed with a complete unaffected genotype are preferred for replacement. Although this policy may lead to a lower number of unaffected embryos suitable for transfer, it is considered preferable to the possibility of a misdiagnosis.

Preimplantation genetic haplotyping (PGH) is a PGD technique wherein a haplotype of genetic markers that have statistical associations to a target disease are identified rather than the mutation causing the disease.[28]

Once a panel of associated genetic markers have been established for a particular disease it can be used for all carriers of that disease.[28] In contrast, since even a monogenic disease can be caused by many different mutations within the affected gene, conventional PGD methods based on finding a specific mutation would require mutation-specic tests. Thus, PGH widens the availability of PGD to cases where mutation-specific tests are unavailable.

PGH also has an advantage over FISH in that FISH is not usually able to make the differentiation between embryos that possess the balanced form of a chromosomal translocation and those carrying the homologous normal chromosomes. This inability can be seriously harmful to the diagnosis made. PGH can make the distinction that FISH often cannot. PGH does this by using polymorphic markers that are better suited at recognizing translocations. These polymorphic markers are able to distinguish between embryos that carried normal, balanced, and unbalanced translocations. FISH also requires more cell fixation for analysis whereas PGH requires only transfer of cells into polymerase chain reaction tubes. The cell transfer is a simpler method and leaves less room for analysis failure.[29]

Embryo transfer is usually performed on day three or day five post-fertilization, the timing depending on the techniques used for PGD and the standard procedures of the IVF centre where it is performed.

With the introduction in Europe of the single-embryo transfer policy, which aims at the reduction of the incidence of multiple pregnancies after ART, usually one embryo or early blastocyst is replaced in the uterus. Serum hCG is determined at day 12. If a pregnancy is established, an ultrasound examination at 7 weeks is performed to confirm the presence of a fetal heartbeat. Couples are generally advised to undergo PND because of the, albeit low, risk of misdiagnosis.

It is not unusual that after the PGD, there are more embryos suitable for transferring back to the woman than necessary. For the couples undergoing PGD, those embryos are very valuable, as the couple's current cycle may not lead to an ongoing pregnancy. Embryo cryopreservation and later thawing and replacement can give them a second chance to pregnancy without having to redo the cumbersome and expensive ART and PGD procedures.

PGD/PGS is an invasive procedure that requires a serious consideration, according to Michael Tucker, Ph.D., Scientific Director and Chief Embryologist at Georgia Reproductive Specialists in Atlanta.[30] One of the risks of PGD includes damage to the embryo during the biopsy procedure (which in turn destroys the embryo as a whole), according to Serena H. Chen, M.D., a New Jersey reproductive endocrinologist with IRMS Reproductive Medicine at Saint Barnabas.[30] Another risk is cryopreservation where the embryo is stored in a frozen state and thawed later for the procedure. About 20% of the thawed embryos do not survive.[31][32] There has been a study indicating a biopsied embryo has a less rate of surviving cryopreservation.[33] Another study suggests that PGS with cleavage-stage biopsy results in a significantly lower live birth rate for women of advanced maternal age.[34] Also, another study recommends the caution and a long term follow-up as PGD/PGS increases the perinatal death rate in multiple pregnancies.[35]

In a mouse model study, PGD has been attributed to various long term risks including a weight gain and memory decline; a proteomic analysis of adult mouse brains showed significant differences between the biopsied and the control groups, of which many are closely associated with neurodegenerative disorders like Alzheimers and Down Syndrome.[36]

PGD has raised ethical issues, although this approach could reduce reliance on fetal deselection during pregnancy. The technique can be used for prenatal sex discernment of the embryo, and thus potentially can be used to select embryos of one sex in preference of the other in the context of "family balancing". It may be possible to make other "social selection" choices in the future that introduce socio-economic concerns. Only unaffected embryos are implanted in a womans uterus; those that are affected are either discarded or donated to science.[37]

PGD has the potential to screen for genetic issues unrelated to medical necessity, such as intelligence and beauty, and against negative traits such as disabilities. The medical community has regarded this as a counterintuitive and controversial suggestion.[38] The prospect of a "designer baby" is closely related to the PGD technique, creating a fear that increasing frequency of genetic screening will move toward a modern eugenics movement.[39] On the other hand, a principle of procreative beneficence is proposed, which is a putative moral obligation of parents in a position to select their children to favor those expected to have the best life.[40] An argument in favor of this principle is that traits (such as empathy, memory, etc.) are "all-purpose means" in the sense of being of instrumental value in realizing whatever life plans the child may come to have.[41]

In 2006 three percent of PGD clinics in the US reported having selected an embryo for the presence of a disability.[42] Couples involved were accused of purposely harming a child. This practice is notable in dwarfism, where parents intentionally create a child who is a dwarf.[42] In the selection of a saviour sibling to provide a matching bone marrow transplant for an already existing affected child, there are issues including the commodification and welfare of the donor child.[43]

By relying on the result of one cell from the multi-cell embryo, PGD operates under the assumption that this cell is representative of the remainder of the embryo. This may not be the case as the incidence of mosaicism is often relatively high.[44] On occasion, PGD may result in a false negative result leading to the acceptance of an abnormal embryo, or in a false positive result leading to the deselection of a normal embryo.

Another problematic case is the cases of desired non-disclosure of PGD results for some genetic disorders that may not yet be apparent in a parent, such as Huntington disease. It is applied when patients do not wish to know their carrier status but want to ensure that they have offspring free of the disease. This procedure can place practitioners in questionable ethical situations, e.g. when no healthy, unaffected embryos are available for transfer and a mock transfer has to be carried out so that the patient does not suspect that he/she is a carrier. The ESHRE ethics task force currently recommends using exclusion testing instead. Exclusion testing is based on a linkage analysis with polymorphic markers, in which the parental and grandparental origin of the chromosomes can be established. This way, only embryos are replaced that do not contain the chromosome derived from the affected grandparent, avoiding the need to detect the mutation itself.[citation needed]

Intersex people are born with physical sex characteristics that don't meet stereotypical binary notions of male or female; such traits are stigmatized for largely cosmetic reasons.[45] PGD allows discrimination against those with with intersex traits. Georgiann Davis argues that such discrimination fails to recognize that many people with intersex traits led full and happy lives.[46]Morgan Carpenter highlights the appearance of several intersex variations in a list by the Human Fertilisation and Embryology Authority of "serious" "genetic conditions" that may be de-selected in the UK, including 5 alpha reductase deficiency and androgen insensitivity syndrome, traits evident in elite women athletes and "the world's first openly intersex mayor".[47]Organisation Intersex International Australia has called for the Australian National Health and Medical Research Council to prohibit such interventions, noting a "close entanglement of intersex status, gender identity and sexual orientation in social understandings of sex and gender norms, and in medical and medical sociology literature".[48]

In 2015, the Council of Europe published an Issue Paper on Human rights and intersex people, remarking:

Some religious organizations disapprove of this procedure. The Roman Catholic Church, for example, takes the position that it involves the destruction of human life.[50] and besides that, opposes the necessary in vitro fertilization of eggs as contrary to Aristotelian principles of nature.[citation needed] The Jewish Orthodox religion believes the repair of genetics is okay, but they do not support making a child that is genetically fashioned[37]

A meta-analysis that was performed indicates research studies conducted in PGD underscore future research. This is due to positive attitudinal survey results, postpartum follow-up studies demonstrating no significant differences between those who had used PGD and those who conceived naturally, and ethnographic studies which confirmed that those with a previous history of negative experiences found PGD as a relief. Firstly, in the attitudinal survey, women with a past history of infertility, pregnancy termination, and repeated miscarriages reported having a more positive attitude towards preimplantation genetic diagnosis. They were more accepting towards pursuing PGD. Secondly, likewise to the first attitudinal study, an ethnographic study conducted in 2004 found similar results. Couples with a past history of multiple miscarriages, infertility, and an ill child, felt that preimplantation genetic diagnosis was a viable option. They also felt more relief; "those using the technology were actually motivated to not repeat pregnancy loss".[51] In summary, although some of these studies are limited due to their retrospective nature and limited samples, the study's results indicate an overall satisfaction of participants for the use of PGD. However, the authors of the studies do indicate that these studies emphasize the need for future research such as creating a prospective design with a valid psychological scale necessary to assess the levels of stress and mood during embryonic transfer and implantation.[51]

Prior to implementing the Assisted Human Reproduction Act (AHR) in 2004, PGD was unregulated in Canada. The Act banned sex selection for non-medical purposes.[52]

Due to 2012s national budget cuts, the AHR was removed. The regulation of assisted reproduction was then delegated to each province.[53] This delegation provides provinces with a lot of leeway to do as they please. As a result, provinces like Quebec, Alberta and Manitoba have put almost the full costs of IVF on the public healthcare bill.[54] Dr. Santiago Munne, developer of the first PGD test for Downs Syndrome and founder of Reprogenetics, saw these provincial decisions as an opportunity for his company to grow and open more Reprogenetics labs around Canada. He dismissed all controversies regarding catalogue babies and states that he had no problem with perfect babies.[55]

Ontario, however, has no concrete regulations regarding PGD. Since 2011, the Ministry of Children and Youth Services in Ontario advocates for the development government-funded safe fertility education, embryo monitoring and assisted reproduction services for all Ontarians. This government report shows that Ontario not only has indefinite regulations regarding assisted reproduction services like IVF and PGD, but also does not fund any of these services. The reproductive clinics that exist are all private and located only in Brampton, Markham, Mississauga, Scarborough, Toronto, London and Ottawa.[56] In contrast, provinces such as Alberta and Quebec not only have more clinics, but have also detailed laws regarding assisted reproduction and government funding for these practices.

Before 2010, the usage of PGD was in a legal grey area.[57] In 2010, the Federal Court of Justice of Germany ruled that PGD can be used in exceptional cases.[57] On 7 July 2011, the Bundestag passed a law that allows PGD in certain cases. The procedure may only be used when there is a strong likelihood that parents will pass on a genetic disease, or when there is a high genetic chance of a stillbirth or miscarriage.[8] On 1 February 2013, the Bundesrat approved a rule regulating how PGD can be used in practice.[57]

In Hungary, PGD is allowed in case of severe hereditary diseases (when genetic risk is above 10%). The preimplantation genetic diagnosis for aneuploidy (PGS/PGD-A) is an accepted method as well. It is currently recommended in case of multiple miscarriages, and/or several failed IVF treatments, and/or when the mother is older than 35 years.[58] Despite being an approved method, PGD-A is available at only one Fertility Clinic in Hungary.[59]

In India, Ministry of Family Health and Welfare, regulates the concept under - "The Pre-Conception and Prenatal Diagnostic Techniques (Prohibition of Sex Selection) Act, 1994". The Act was further been revised after 1994 and necessary amendment were made are updated timely on the official website of the Indian Government dedicated for the cause.[60]

In South Africa, where the right to reproductive freedom is a constitutionally protected right, it has been proposed that the state can only limit PGD to the degree that parental choice can harm the prospective child or to the degree that parental choice will reinforce societal prejudice.[61]

The preimplantation genetic diagnosis is allowed in Ukraine and from November 1, 2013 is regulated by the order of the Ministry of health of Ukraine "On approval of the application of assisted reproductive technologies in Ukraine" from 09.09.2013 787. [3].

In the UK, assisted reproductive technologies are regulated under the Human Fertilization and Embryology Act (HFE) of 2008. However, the HFE Act does not address issues surrounding PGD. Thus, the HFE Authority (HFEA) was created in 2003 to act as a national regulatory agency which issues licenses and monitors clinics providing PGD. The HFEA only permits the use of PGD where the clinic concerned has a licence from the HFEA and sets out the rules for this licensing in its Code of Practice ([4]). Each clinic, and each medical condition, requires a separate application where the HFEA check the suitability of the genetic test proposed and the staff skills and facilities of the clinic. Only then can PGD be used for a patient.

The HFEA strictly prohibits sex selection for social or cultural reasons, but allows it to avoid sex-linked disorders. They state that PGD is not acceptable for, "social or psychological characteristics, normal physical variations, or any other conditions which are not associated with disability or a serious medical condition." It is however accessible to couples or individuals with a known family history of serious genetic diseases.[62] Nevertheless, the HFEA regards intersex variations as a "serious genetic disease", such as 5-alpha-reductase deficiency, a trait associated with some elite women athletes.[63] Intersex advocates argue that such decisions are based on social norms of sex gender, and cultural reasons.[64]

No uniform system for regulation of assisted reproductive technologies, including genetic testing, exists in the United States. The practice and regulation of PGD most often falls under state laws or professional guidelines as the federal government does not have direct jurisdiction over the practice of medicine. To date, no state has implemented laws directly pertaining to PGD, therefore leaving researchers and clinicians to abide to guidelines set by the professional associations. The Center for Disease Control and Prevention (CDC) states that all clinics providing IVF must report pregnancy success rates annually to the federal government, but reporting of PGD use and outcomes is not required. The American Society for Reproductive Medicine (ASRM) states that, "PGD should be regarded as an established technique with specific and expanding applications for standard clinical practice." They also state, "While the use of PGD for the purpose of preventing sex-linked diseases is ethical, the use of PGD solely for sex selection is discouraged."[65]

In a study of 135 IVF clinics, 88% had websites, 70% mentioned PGD and 27% of the latter were university- or hospital-based and 63% were private clinics. Sites mentioning PGD also mentioned uses and benefits of PGD far more than the associated risks. Of the sites mentioning PGD, 76% described testing for single-gene diseases, but only 35% mentioned risks of missing target diagnoses, and only 18% mentioned risks for loss of the embryo. 14% described PGD as new or controversial. Private clinics were more likely than other programs to list certain PGD risks like for example diagnostic error, or note that PGD was new or controversial, reference sources of PGD information, provide accuracy rates of genetic testing of embryos, and offer gender selection for social reasons.[66]

Read the rest here:
Preimplantation genetic diagnosis - Wikipedia, the free ...

This article is about a type of pregnancy. For other uses of the word "surrogacy", see Surrogate. Legal regulation of surrogacy in the world:

Both gainful and altruistic forms are legal

No legal regulation but is done

Legal only altruistically

Allowed between relatives up to second degree of consanguinity

Banned

Unregulated / uncertain situation

A surrogacy arrangement or surrogacy agreement is the carrying of a pregnancy for intended parents. There are two main types of surrogacy, gestational surrogacy (also known as host or full surrogacy[1]) and traditional surrogacy (also known as partial, genetic, or straight surrogacy[1]). In gestational surrogacy, the pregnancy results from the transfer of an embryo created by in vitro fertilization (IVF), in a manner so the resulting child is genetically unrelated to the surrogate. Gestational surrogates are also referred to as gestational carriers. In traditional surrogacy, the surrogate is impregnated naturally or artificially, but the resulting child is genetically related to the surrogate. In the United States, gestational surrogacy is more common than traditional surrogacy and is considered less legally complex.[2]

Intended parents may seek a surrogacy arrangement when either pregnancy is medically impossible, pregnancy risks present an unacceptable danger to the mother's health or is a same sex couples preferred method of procreation. Monetary compensation may or may not be involved in these arrangements. If the surrogate receives compensation beyond reimbursement of medical and other reasonable expenses, the arrangement is considered commercial surrogacy; otherwise, it is referred to as altruistic. The legality and costs of surrogacy vary widely between jurisdictions, sometimes resulting in interstate or international surrogacy arrangements.

Having another woman bear a child for a couple to raise, usually with the male half of the couple as the genetic father, is referred to in antiquity. Babylonian law and custom allowed this practice, and infertile woman could use the practice to avoid a divorce, which would otherwise be inevitable.[3]

Many developments in medicine, social customs, and legal proceedings worldwide paved the way for modern commercial surrogacy:[4]

Surrogacy has the potential for various kinds of clash between surrogate mothers and intended parents. For instance, the intended parents of the fetus may ask for an abortion when complications arise and the surrogate mother may oppose the abortion.[6][7]

A surrogate is implanted with an embryo created by IVF. The resulting child is genetically unrelated to the surrogate. There are several sub-types of gestational surrogacy as noted below.

A surrogate is implanted with an embryo created by IVF, using intended father's sperm and intended mother's eggs.

A surrogate is implanted with an embryo created by IVF, using intended father's sperm and a donor egg where the donor is not the surrogate. The resulting child is genetically related to intended father and genetically unrelated to the surrogate.

A surrogate is implanted with an embryo created by IVF, using intended mother's egg and donor sperm. The resulting child is genetically related to intended mother and genetically unrelated to the surrogate.

A donor embryo is implanted in a surrogate; such embryos may be available when others undergoing IVF have embryos left over, which they opt to donate to others. The resulting child is genetically unrelated to the intended parent(s) and genetically unrelated to the surrogate.

This involves naturally[8] or artificially inseminating a surrogate with intended father's sperm via IUI, IVF or home insemination. With this method, the resulting child is genetically related to intended father and genetically related to the surrogate.

A surrogate is artificially inseminated with donor sperm via IUI, IVF or home insemination. The resulting child is genetically unrelated to the intended parent(s) and genetically related to the surrogate.

As of 2013, locations where a woman could legally be paid to carry another's child through IVF and embryo transfer included India, Georgia, Russia, Thailand, Ukraine and a few U.S. states.[9]

The legal aspects of surrogacy in any particular jurisdiction tend to hinge on a few central questions:

Although laws differ widely from one jurisdiction to another, some generalizations are possible:

The historical legal assumption has been that the woman giving birth to a child is that child's legal mother, and the only way for another woman to be recognized as the mother is through adoption (usually requiring the birth mother's formal abandonment of parental rights).

Even in jurisdictions that do not recognize surrogacy arrangements, if the genetic parents and the birth mother proceed without any intervention from the government and have no changes of heart along the way, they will likely be able to achieve the effects of surrogacy by having the surrogate mother give birth and then give the child up for private adoption to the intended parents.

If the jurisdiction specifically prohibits surrogacy, however, and finds out about the arrangement, there may be financial and legal consequences for the parties involved. One jurisdiction (Quebec) prevented the genetic mother's adoption of the child even though that left the child with no legal mother.[10]

Some jurisdictions specifically prohibit only commercial and not altruistic surrogacy. Even jurisdictions that do not prohibit surrogacy may rule that surrogacy contracts (commercial, altruistic, or both) are void. If the contract is either prohibited or void, then there is no recourse if one party to the agreement has a change of heart: If a surrogate changes her mind and decides to keep the child, the intended mother has no claim to the child even if it is her genetic offspring, and the couple cannot get back any money they may have paid or reimbursed to the surrogate; if the intended parents change their mind and do not want the child after all, the surrogate cannot get any reimbursement for expenses, or any promised payment, and she will be left with legal custody of the child.

Jurisdictions that permit surrogacy sometimes offer a way for the intended mother, especially if she is also the genetic mother, to be recognized as the legal mother without going through the process of abandonment and adoption.

Often this is via a birth order[11] in which a court rules on the legal parentage of a child. These orders usually require the consent of all parties involved, sometimes including even the husband of a married gestational surrogate. Most jurisdictions provide for only a post-birth order, often out of an unwillingness to force the surrogate mother to give up parental rights if she changes her mind after the birth.

A few jurisdictions do provide for pre-birth orders, generally in only those cases when the surrogate mother is not genetically related to the expected child. Some jurisdictions impose other requirements in order to issue birth orders, for example, that the intended parents be heterosexual and married to one another. Jurisdictions that provide for pre-birth orders are also more likely to provide for some kind of enforcement of surrogacy contracts.

Ethical issues that have been raised with regards to surrogacy include:[12]

Different religions take different approaches to surrogacy, often related to their stances on assisted reproductive technology in general.

Paragraph 2376 of the Catechism of the Catholic Church states that: "Techniques that entail the dissociation of husband and wife, by the intrusion of a person other than the couple (donation of sperm or ovum, surrogate uterus), are gravely immoral."[13]

Jewish law states that the parents of the child are the man who gives sperm and the woman who gives the egg cell. More recently, Jewish religious establishments have accepted surrogacy only if it is full gestational surrogacy with both intended parents' gametes included and fertilization done via IVF.[14]

A study by the Family and Child Psychology Research Centre at City University London in 2002 concluded that surrogate mothers rarely had difficulty relinquishing rights to a surrogate child and that the intended mothers showed greater warmth to the child than mothers conceiving naturally.[15][16][17]

Anthropological studies of surrogates have shown that surrogates engage in various distancing techniques throughout the surrogate pregnancy so as to ensure that they do not become emotionally attached to the baby.[18][19] Many surrogates intentionally try to foster the development of emotional attachment between the intended mother and the surrogate child.[20]

Surrogates are generally encouraged by the agency they go through to become emotionally detached from the fetus prior to giving birth.[21]

Instead of the popular expectation that surrogates feel traumatized after relinquishment, an overwhelming majority describe feeling empowered by their surrogacy experience.[19][22]

Although surrogate mothers generally report being satisfied with their experience as surrogates there are cases in which they are not. Unmet expectations are associated with dissatisfaction. Some women did not feel a certain level of closeness with the couple and others did not feel respected by the couple.[23]

Some women experience emotional distress when participating as a surrogate mother. This could be due to a lack of therapy and emotional support through the surrogate process.[23]

Some women have psychological reactions when being surrogate mothers. These include depression when surrendering the child, grief, and even refusal to release the child.[24]

A 2011 study from the Centre for Family Research at the University of Cambridge found that surrogacy does not have a negative impact on the surrogate's own children.[25]

A recent study (involving 32 surrogacy, 32 egg donation, and 54 natural conception families) examined the impact of surrogacy on motherchild relationships and children's psychological adjustment at age seven. Researchers found no differences in negativity, maternal positivity, or child adjustment.[26]

Fertility tourism for surrogacy is driven by legal regulations in the home country, or lower price abroad.

India is a main destination for surrogacy. Indian surrogates have been increasingly popular with intended parents in industrialized nations because of the relatively low cost. Indian clinics are at the same time becoming more competitive, not just in the pricing, but in the hiring and retention of Indian females as surrogates. Clinics charge patients between $10,000 and $28,000 for the complete package, including fertilization, the surrogate's fee, and delivery of the baby at a hospital. Including the costs of flight tickets, medical procedures and hotels, it comes to roughly a third of the price compared with going through the procedure in the UK.[27]

Surrogacy in India is of low cost and the laws are flexible. In 2008, the Supreme Court of India in the Manji's case (Japanese Baby) has held that commercial surrogacy is permitted in India. That has again increased the international confidence in going in for surrogacy in India. But as of 2014, a surrogacy ban was placed on homosexual couples and single parents.

There is an upcoming Assisted Reproductive Technology Bill, aiming to regulate the surrogacy business. However, it is expected to increase the confidence in clinics by sorting out dubious practitioners, and in this way stimulate the practice.[27]

Liberal legislation makes Russia attractive for "reproductive tourists" looking for techniques not available in their countries. Intended parents come there for oocyte donation, because of advanced age or marital status (single women and single men) and when surrogacy is considered. Gestational surrogacy, even commercial is absolutely legal in Russia, being available for practically all adults willing to be parents.[28] Foreigners have the same rights as for assisted reproduction as Russian citizens. Within three days after the birth the commissioning parents obtain a Russian birth certificate with both their names on it. Genetic relation to the child (in case of donation) does not matter.[29] On August 4, 2010, a Moscow court ruled that a single man who applied for gestational surrogacy (using donor eggs) could be registered as the only parent of his son, becoming the first man in Russia to defend his right to become a father through a court procedure.[30] The surrogate mother's name was not listed on the birth certificate; the father was listed as the only parent.

Surrogacy is completely legal in Ukraine. However, only healthy mothers who have had children before can become surrogates. Surrogates in Ukraine have zero parental rights over the child, as stated on Article 123 of the Family Code of Ukraine. Thus, a surrogate cannot refuse to hand the baby over in case she changes her mind after birth. Only married couples can legally go through gestational surrogacy in Ukraine.

The United States is sought as a location for surrogate mothers by some couples seeking a green card in the U.S., since the resulting child can get birthright citizenship in the United States, and can thereby apply for green cards for the parents when the child turns 21 years of age.[31] However, this is not the main reason. People come to the US for surrogacy procedures, including to enjoy a better quality of medical technology and care, as well as the high level of legal protections afforded through some US state courts to surrogacy contracts as compared to other countries. Increasingly, homosexual couples who face restrictions using IVF and surrogacy procedures in their home countries travel to US states where it is legal.

Read more:
Surrogacy - Wikipedia, the free encyclopedia

Often when a reader is confronted with a legal issue or concern, it is a time of confusion and emotional distress. Between possible physical injuries, medical bills and emotional stress, the legal processand just finding legal information or legal helpcan be overwhelming. We understand that. As a matter of fact, while everyone at LawyersAndSettlements.com is well-versed in legal matters, no one on the editorial staff is a lawyer or in any way a part of a law firm. Not only does that ensure our journalistic integrity, but it also allows us to see legal issues from the most important perspectiveyours. We understand the legal questions you have. From questions about personal injury settlements to what's involved in addressing medical legal issues or how to find a lawyer to help with employment law cases, LawyersAndSettlements.com provides the answers and legal information you need to help you make informed decisions and find legal help.

Finding a personal injury lawyer or joining a class action lawsuit as a lead plaintiff can be dauntingeven for those who've worked with a lawyer previously for personal matterssuch as to create a will, file for divorce or establish power of attorney. Knowing that, LawyersAndSettlements.com does accept advertising from personal injury lawyers and class action attorneysby doing so, lawyers who specialize in medical lawsuits, employment law cases, class action lawsuits and personal injury lawsuits make themselves more accessible to readers who have legal complaints. Having your case reviewed by a lawyer is freeand it only takes a minute or two to submit a claim.

One of the most challenging legal issues that a reader can face is a harmful drug case. Sometimes there has been a drug recall. More often, harmful drug side effects arise without warningand sometimes it takes quite some time before a diagnosis is made to connect the harmful drug to the negative side effects. As a patient, filing a medical lawsuit or even contacting a medical malpractice attorney, defective medical device lawyer or harmful drug attorney is often the last thing on a harmful drug victim's mind. Medical legal issues often have statutes of limitations for filing medical lawsuits and they can also require a fair amount of documentationall of which can be overwhelming for a victim. That's why it is often not only easier, but also recommended, to have the details of any medical legal issues reviewed by a lawyer who specializes in medical lawsuits. At LawyersAndSettlements.com, we provide readers with a convenient, trusted and free way to have their medical legal issues reviewed by a lawyer.

Millions of LawyersAndSettlements.com readers benefit from our in-depth coverage of the legal issues that affect all of us every day. Our Class Action and Personal Injury Newsletter provides weekly updates on top legal news stories, new lawsuits, class action suit filings and personal injury settlements. In addition, LawyersAndSettlements.com readers can subscribe to Instant Email Alerts that provide breaking coverage on emerging legal issues, defective product and harmful drug recalls, and FDA warnings and labeling changes on prescription drugs and over-the-counter medications.

Online Legal Media accepts advertising from lawyers, and is not a lawyer referral service. Learn more about us here.

The rest is here:
Lawsuits, Legal News & Issues, Lawsuit Settlements, Class ...

When Hypothyroid Mom launched on October 1st, 2012, I hoped my blog would reach a few readers outside of my family and friends, but never did I imagine the number of people that it would reach in such a short time. I was blown away when thyroid expert Dr. Kent Holtorf, medical director of the non-profit National Academy of Hypothyroidism and medical director of the Holtorf Medical Group, included @HypothyroidMom in his recommended list of people to follow on Twitter on a Friday in early November (#FF FollowFriday).

Dr. Kent Holtorf @HoltorfMed

#FF @HypothyroidMom @BHthyroid @crzythyroidlady @ThyroidMary @ThyroidChange @OutsmartDisease #hypothyroid #thyroid #hashimotos disease

When the Holtorf Medical Group contacted me recently about including this guest blog post at Hypothyroid Mom, I was so honored. Its pretty obvious by how I responded to his team.

Dr. Holtorf has been a great supporter of Hypothyroid Mom since I launched in October 2012. He shared my blog with his followers on Twitter in the very early days when no one but my family and friends had any idea I existed. Absolutely yes I would gladly include this guest blog post about Hashimotos disease.

Dr. Holtorf ROCKS! You let him know that.

What is Hashimotos thyroiditis or Hashimotos disease? It is a genetically inherited disorder of the immune system in which there is chronic inflammation of the thyroid gland. Its as though the bodys immune system is confused and turns against the thyroid gland, making antibodies that interfere with the thyroid hormones ability to function.

How common is it? It might be more common than you think. According to current published data, there are approximately 14 million Americans who have Hashimotos and women are seven times as likely to have it as men. The number one symptom of hypothyroidism, or sluggish thyroid functioning, is fatigue. This stands to reason, since the thyroid hormones help our cells absorb and utilize energy from sources such as food and other hormones.

People who have Hashimotos can find themselves feeling like theyve been short-changed, but so often, they dont know why. They think, Why am I so tired all the time? Even if I sleep all night long, I still feel like I could sleep all day, too. They push themselves just to make it through the day. Their routine might include caffeine in the morning in order to make it to lunch. Instead of eating, they drink a shake and take a nap until lunch is over. The short nap gives them just enough energy to get through the afternoon. They cant wait to get home so they can crawl into bed as soon as possible. If its been a rough day, they may not even have enough energy to put on pajamas before going to bed. Does this sound at all familiar to you or is there someone you know that this describes? You dont have to feel this way, and you dont have to live this way.

The thyroid antibodies the immune system makes with Hashimotos are proteins that attach themselves to thyroid hormone, decreasing the amount of hormone that is available in the bloodstream. This is the primary reason it is so important to find a physician who will work with you to determine the appropriate treatment for you. The first course of treatment is determining the best thyroid replacement for you.

Once you find a Hashimotos disease doctor they will begin by treating you with thyroid hormone replacement therapy, but there are other medical and nutritional additions that can help.

Individuals with Hashimotos disease often have low levels of DHEA and testosterone. When these are supplemented, it can decrease levels of antibodies and decrease the ongoing destruction of the thyroid gland. It has also been shown that selenium deficiency can play a role in Hashimotos disease. Taking Selenium supplementation can often reduce antibody levels, though selenium is not a replacement for thyroid medication.

Low Dose Naltrexone has also shown to be very effective for autoimmune diseases such as Hashimotos disease and it can lower anti-thyroid antibodies.

Identifying and treating any chronic viral or bacterial infection that may be the underlying cause of the immune dysfunction can reverse the disease.

It might seem strange, but immune boosters can help Hashimotos disease. But they must boost the TH1 portion of the immune system and not the TH2 immunity. Treating with TH1 immune boosters can cause a reduction of the hyperactive TH2 immune response that is present in Hashimotos disease and help reverse the underlying cause. This may be especially helpful when a chronic infection is present, which is often the case (especially in chronic fatigue syndrome and fibromyalgia). The immune-modulatory properties of gamma globulin, either given intramuscularly or intravenously, can be very beneficial.

As you now know, there are a variety of treatments for Hashimotos and finding a hashimotos doctor that can assess you correctly and understand the treatment options can make all the difference in your quality of life.

Continued here:
Hashimoto's Thyroiditis - It's a Genetics Thing by Holtorf ...

ELSI Research Program The Ethical, Legal and Social Implications (ELSI) Research Program ELSI Research Program Overview

The National Human Genome Research Institute's (NHGRI) Ethical, Legal and Social Implications (ELSI) Research Program was established in 1990 as an integral part of the Human Genome Project (HGP) to foster basic and applied research on the ethical, legal and social implications of genetic and genomic research for individuals, families and communities. The ELSI Research Program funds and manages studies, and supports workshops, research consortia and policy conferences related to these topics.

An article describing the ELSI Research Program in greater detail can be found here: The Ethical, Legal and Social Implications Program of the National Human Genome Research Institute: Reflections on an Ongoing Experiment

On February 10, 2011, Nature magazine published NHGRI's strategic plan for the future of human genome research, called Charting a course for genomic medicine from base pairs to bedside . This plan includes a section on Genomics and Society that outlines four areas that will need to be addressed as genomic science and medicine move forward. Based on these areas, the NHGRI has developed the following broad research priorities.

A more detailed discussion of each of these areas and a list of examples of possible research topics is available at ELSI Research Priorities and Possible Research Topics.

Top of page

The NHGRI, along with several other National Institutes of Health (NIH) institutes, has released revised general program announcements to solicit research projects that anticipate, analyze, and address the ethical, legal, and social implications of the discovery of new genetic technologies and the availability and use of genetic information resulting from human genetics and genomic research.

The NHGRI participates in the NIH-wide program announcments on human subjects research issues.

The ELSI program also participates in a number of related research grant opportunities, and time limited requests for applications.

The NHGRI ELSI Program accepts Conference Grant (R13) applications. For specific instructions for preparing a conference grant application, see:

The ELSI program participates in a number of training and career development funding opportunities.

Top of page

Top of page

In the Fall of 2003, the NHGRI in collaboration with U.S. Department of Energy (DOE) and the National Institute of Child Health and Human Development (NICHD) launched a new initiative to create interdisciplinary Centers of Excellence in ELSI Research (CEER). The CEERs are designed to bring investigators from multiple disciplines together to work in innovative ways to address important new, or particularly persistent, ethical, legal, and social issues related to advances in genetics and genomics. In addition, the centers will support the growth of the next generation of researchers on the ethical, legal and social implications of genomic research. Special efforts will be made to recruit potential researchers from under-represented groups.

The National Human Genome Research Institute (NHGRI) is soliciting grant applications for the support of Centers of Excellence in ELSI Research (CEERs).

For more information about the CEER's program, see: Centers of Excellence in ELSI Research (CEER).

To view the PDFs on this page you will need Adobe Acrobat Reader.

Top of page

Joy Boyer, B.A. E-mail: boyerj@exhange.nih.gov

Dave Kaufman, Ph.D. E-mail: dave.kaufman@nih.gov

Nicole Lockhart, Ph.D. E-mail: lockhani@mail.nih.gov

Jean McEwen, J.D., Ph.D. E-mail: mcewenj@mail.nih.gov

Alexander Lee E-mail: alexander.lee@nih.gov

Annie Niehaus E-mail: annie.niehaus@nih.gov

Tasha Stewart E-mail: Tasha.stewart@nih.gov

Address The Ethical, Legal and Social Implications Research Program National Human Genome Research Institute National Institutes of Health 5635 Fishers Lane Suite 4076, MSC 9305 Bethesda, MD 20892-9305

Phone: (301) 402-4997 Fax: (301) 402-1950 E-mail: elsi@nhgri.nih.gov

Top of page

Last Updated: May 20, 2015

See original here:
The ELSI Research Program - Genome.gov

Rapid developments in the medical field in the last century have revolutionized the field of medical practice. It is now possible to diagnose diseases faster and more accurately using advanced diagnostic techniques. Medical management has become more effective with refined medications having more specific actions and fewer side effects. Surgical treatment has moved towards less invasive modes of management with lesser morbidity and faster recovery. Among all these developments, the medical profession in India is at crossroads facing many ethical and legal challenges in the practice of the profession. The medical fraternity is becoming more and more dependent on technology and market forces tend to influence decision making by the doctors. The fundamental values of medicine insist that the doctor's obligation is to keep the patients interest above everything else. The important issues of autonomy, confidentiality, justice, beneficence, and non malefecience are key factors that should guide the daily decision making by the doctor. These decisions may be involving a simple choice of antibiotics for an infection or the best medication for hypertension or hypercholestrolemia. It becomes more complex involving major ethical concerns in organ transplantation, clinical trials, genetic manipulations, end of life issues, or assisted reproductive techniques. However, the principles of ethics remain the same for all the above situations. The ethical guidelines of medical practice provided by The Indian Medical Council (Professional Conduct, Etiquette, and Ethics) Regulations, 2002 is aimed at strengthening the ethical standards among registered medical practitioners in India.

The health sector in India has seen a major transformation with health care becoming a profitable sector attracting investors from diverse and varied backgrounds with profitable motives. There is also an allegation that the practice of modern medicine is becoming more impersonal, and with the increasing dependence on technology, the cost of treatment also rises. It is a fact that cannot be ignored that there is increasing dissatisfaction on the part of the patients who are expecting more and more from the doctors, leading to increasing incidence of litigation. The Medical Council of India has a redressal mechanism that can give punishment to the erring doctor after proper investigative procedures. The unnecessary harassment of doctors who are falsely implicated in criminal negligence issues has been curtailed by the Supreme Court, which has issued guidelines for the criminal charging of a doctor for negligence.

The medical profession that was once considered noble is now considered along with other professions in the liability of paying for damages. The patients who wanted monetary compensation for the alleged medical negligence used to resort to the civil courts. This was the only avenue earlier that used to be a lengthy process with its detailed procedural formalities. The confusion about the inclusion of doctors under the Consumer Protection Act, 1986 has been laid to rest by the landmark decision of the Supreme Court in 1996 that puts the services of doctors for consideration under the purview of the Consumer Protection Act. This resulted in an increasing incidence of consumer cases where doctors were implicated for all types of allegations by patients. The recent Supreme Court guidelines that call for stricter evaluation by the Consumer Courts before proceeding with alleged medical negligence cases by the patients will be a boon to the doctors who will not be pulled into unnecessary litigation. However it has to be noted that the judicial bodies favour the patient who has suffered due to the negligent action of the doctors as reiterated by another Supreme Court decision recently confirming the decision of the State Commisison and giving a much higher compensation.

It is imperative that the present day medical doctors have continuing medico-legal education. Doctors have a legal duty to comply with the applicable ethical and legal regulations in their daily practice. Ignorance of law and its implications will be detrimental to the doctor even though he treats the patient in good faith for the alleviation of the patient's suffering. All actions that are done in good faith may not stand legal testing. With the increasing number of cases filed by aggrieved patients seeking legal remedy from doctors and medical establishments, it is no longer a matter of choice, but a context-driven legal mandate and necessity for the doctors to be conversant with basic legal issues involved in medical practice. This symposium aims at giving a basic insight into two main areas of medical practice:

The ethical issues in medical practice including changing doctor-patient relationships, the need for introducing ethical training in the undergraduate and postgraduate medical training, the modern challenges in urological practice, and the ethical and legal issues in kidney transplantation covered from an Indian perspective.

The legal issues covered include the basics of medical negligence, changing concepts of informed consent, and the practical issues of medical negligence cases with representative case decisions from the Indian Courts.

Read more:
Ethical and legal issues in medical practice

December 2007

The Human Genome Project enabled genomic understanding.

A child with Downs Syndrome showing white spots on the iris known as Brushfields Spots. Tests can screen for a predisposition to the syndrome. Source: Wikimedia Commons.

Will a genetic test change your life for the better? Predictive Genetic Testing (PGT) is the use of a genetic test to predict future risk of disease. Although PGT is relatively new, arising from the mapping of the human genome, it has rapidly emerged as a technology that carries many benefits, but many risks, as well. Considerable debate surrounds the moral and ethical issues regarding persons who have undergone predictive genetic testing.

X-linked recessive manner means that the inherited trait almost exclusively affects males.

PGT is utilized commonly in the following circumstances:

Each one of these circumstances carries a particular set of ethical, legal, or social implications, depending on the reasoning behind the testing. For example:

Genetic results are directly related to an individuals identity.

In any circumstance, privacy and confidentiality are critical because the genetic results are directly related to an individuals identity.5 Not only is confidentiality an issue for health care, but to prevent genetic discrimination in insurance coverage and employment, as well. Information from a genetic test can affect an entire family. If the disorder is either genetically dominant or carried by an individual, that persons parents, children, brothers, sisters, and even extended family may also be affected. Questions that arise may be:

Furthermore, a person may make life-altering decisions based on the results of a genetic test.6

See the original post:
Genetic Testing to Predict Disease: Ethical, Legal, and ...

This document reflects emerging clinical and scientific advances as of the date issued and is subject to change. The information should not be construed as dictating an exclusive course of treatment or procedure to be followed.

ABSTRACT: Genetic testing is poised to play an increasing role in the practice of obstetrics and gynecology. To assure patients of the highest quality of care, physicians should become familiar with the currently available array of genetic tests and the tests' limitations. Clinicians should be able to identify patients within their practices who are candidates for genetic testing. Candidates will include patients who are pregnant or considering pregnancy and are at risk for giving birth to affected children as well as gynecology patients who, for example, may have or be predisposed to certain types of cancer. The purpose of this Committee Opinion is to review some of the ethical issues related to genetic testing and provide guidelines for the appropriate use of genetic tests by obstetriciangynecologists. Expert consultation and referral are likely to be needed when obstetriciangynecologists are confronted with these issues.

Although ethical questions related to genetic testing have been recognized for some time, they have gained a greater urgency because of the rapid advances in the field as a result of the success of the Human Genome Project. That projecta 13-year multibillion-dollar programwas initiated in 1990 to identify all the estimated 20,00025,000 genes and to make them accessible for further study. The project harnessed America's scientists in a quest for rapid completion of a high-priority mission but left a series of ethical challenges in its wake. When developing the authorizing legislation for the federally funded Human Genome Project, Congress recognized that ethical conundrums would result from the project's technical successes and included the need for the development of federally funded programs to address ethical, legal, and social issues. Accordingly, the U.S. Department of Energy and the National Institutes of Health earmarked portions of their budgets to examine the ethical, legal, and social issues surrounding the availability of genetic information.

The purpose of this Committee Opinion is to review some of the ethical issues related to genetic testing and provide guidelines for the appropriate use of genetic tests by obstetriciangynecologists. It is important to note at the outset, given the increasing complexity of this field and the quickness with which it advances, that expert consultation and referral are likely to be needed when obstetriciangynecologists are confronted with many of the issues detailed in this Committee Opinion.

The pace at which new information about genetic diseases is being developed and disseminated is astounding. Thus, the ethical obligations of clinicians start with the need to maintain competence in the face of this evolving science. Clinicians should be able to identify patients within their practices who are candidates for genetic testing. Candidates will include patients who are pregnant or considering pregnancy and are at risk for giving birth to affected children as well as gynecology patients who, for example, may have or be predisposed to certain types of cancer.

If a patient is being evaluated because of a diagnosis of cancer in a biologic relative and is found to have genetic susceptibility to cancer, she should be offered counseling and follow-up, with referral as appropriate, to ensure delivery of care consistent with current standards. In fact, genetic screening for any clinical purpose should be tied to the availability of intervention, including prenatal diagnosis, counseling, reproductive decision making, lifestyle changes, and enhanced phenotype screening.

One of the pillars of professionalism is social justice, which would oblige physicians to "promote justice in the health care system, including the fair distribution of health care resources" (1). In the context of genetic testing, justice would require clinicians to press for resources, independent of an individual's ability to pay, when they encounter barriers to health care for their patients who require care as a consequence of genetic testing and diagnosis (1).

Obstetriciangynecologists also are ideally positioned to educate women. When they, or experts in genetics to whom they refer, counsel on genetics, they should provide accurate information and, if needed, emotional support for patients burdened by the results or consequences of genetic diagnoses, be they related to preconception or prenatal care, cancer risks, or other implications for health. Finally, clinicians should familiarize their patients with steps that can be taken to mitigate health risks associated with their genetic circumstance (eg, having a colonoscopy if there is a predisposition to colon cancer) (2).

It recently has been suggested that each person's entire genome may be available for use by physicians for diagnostic and therapeutic purposes in the not-too-distant future (3). Although that might seem like a medical panacea, the potential risks associated with wide-scale genetic testing are substantial. Many incidental findings will come to light, and yet, although those tested may be tempted to believe otherwise, genetic findings do not equate directly with either disease or health: "one hundred percent accurate identification of such incidental pathologies will lead to iatrogenic pathology the belief that genetics completely determines phenotypic outcome must be informed by an understanding that most genetic measurements only shift the probability of an outcome, which often depends on other environmental triggers and chance" (4).

Genetic Exceptionalism

See the article here:
Ethical Issues in Genetic Testing - ACOG