StemCell Therapy

This is an illustration of SRM peaks and a human face. Reporting in the journal Cell, Senior Research Scientist Dr. Ulrike Kusebauch, of Institute for Systems Biology (ISB), describes the results of a collaboration between scientists at ISB, ETH Zurich and a number of other contributing institutes to develop the Human SRMAtlas, a compendium of proteomic assays for any human protein. The Human SRMAtlas is a compendium of highly specific mass spectrometry assays for the targeted identification and reproducible quantification of any protein in the predicted human proteome, including assays for many spliced variants, non-synonymous mutations and post-translational modifications. Using the technique called selected reaction monitoring, assays were developed with the use of 166,174 well-characterized, chemically synthesized proteotypic peptides. The SRMAtlas resource is freely publicly available at http://www.srmatlas.org and will equally benefit focused, hypothesis-driven and large proteome-scale studies. We expect this resource will significantly advance protein-based experimental biology to understand disease transitions and wellness trajectories because any human protein can now, in principle, be identified and quantified in any sample.

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Posted by David Gorski on June 27, 2016

Whats the harm? Stroke victim Jim Gass went from requiring a cane and leg brace to walk to being confined to a wheelchair, thanks to dubious stem cell treatments. Theres the harm.

Its been over two weeks now since hockey legend Gordie Howe died at the age of 88. Detroit, as Ive pointed out elsewhere, is a serious hockey town, as hockey-crazy as any town in Canada (just look at the fancy new hockey arena named after crappy pizza being built downtown only a mile from where I work), and it worshiped Gordie Howe for as long as I can remember growing up here.

The reason I mentioned this is because in late 2014, Howe suffered a series of debilitating strokes that brought him close to death. He survived, but with major neurologic deficits. As a result of Gordie Howes fame, representatives of a company known as Stemedica who were also fans of Gordie Howe and whose company is developing stem cell treatments for a variety of illnesses, approached the family and persuaded them to take Gordie Howe to the Novastem Clinic in Tijuana, a clinic that to me appeared to exist mainly as a means for patients not eligible for Stemedicas clinical trials in the US to receive Stemedicas stem cells outside of a clinical trial, cash on the barrelhead, no questions asked. In a rather ethically dubious move that could only be viewed as paying for publicity (which it got in abundance), Stemedica administered its stem cells to Gordie Howe for free. If youre not Gordie Howe, however, itll cost you about $32,000.

As is the case for most anecdotes like this, Gordie Howe did improve. That is not surprising, because, as Steve Novella, who is a neurologist and thus takes care of stroke patients as part of his practice, told me at the time, the natural history of stroke is neurologic recovery that eventually plateaus several months after the stroke. This occurs as the inflammation from the initial stroke abates and as much regeneration as the body can muster occurs. Also, as I noted before, Howe had a hemorrhagic stroke, which is more dangerous and likely to kill early but, if the victim survives, he is more likely to experience better functional recovery than in the case of the much more common ischemic stroke, in which a blood clot clogs a blood vessel, resulting in the death of brain tissue supplied by that vessel. In any case, as I described in a three part series of posts (part one, part two, part three), its impossible to know whether the stem cell infusion that Howe underwent had anything whatsoever with his partial recovery that allowed him to make a few public appearances in 2015 and 2016.

Unfortunately, the offer by Dr. Maynard Howe (CEO) and Dave McGuigan (VP) of Stemedica Cell Technologies to treat Gordie Howe at Novastem worked brilliantly. Gordie Howe quickly became the poster child for dubious stem cell therapies. Local and national news aired credulous, feel-good human interest stories about his seemingly miraculous recovery, while Keith Olbermann practically served as a pitch man for Stemedica and didnt take kindly at all to any criticism of hisshall we say?enthusiastic coverage. The predominant angle taken in stories about Gordie Howe was he had undergone Stemedicas stem cell therapy and, as result, enjoyed a miraculous recovery from his stroke. The vast majority of news coverage also tended to present the magic of stem cell therapies credulously, as all benefit and no risk, as a qualitative analysis published last year clearly showed, finding that the efficacy of stem cell treatments is often assumed in news coverage and readers comments and that media coverage that presents uncritical perspectives on unproven stem cell therapies may create patient expectations, may have an affect [sic] on policy discussions, and help to feed the marketing of unproven therapies.

No kidding.

Why, you might ask, am I reminding you of Gordie Howes use of stem cells to treat his strokes? Simple, it became part of a marketing blitz, credulously swallowed whole by Keith Olbermann and many reporters, for unproven stem cell therapies, which have been portrayed as very promising (which is likely true, although that promise hasnt yet been proven or realized) and harmless, which is definitely not true, as evidenced by the story of Jim Gass, as published last week in The New England Journal of Medicine, The New York Times, The Boston Globe, and a variety of other media. Before I discuss Mr. Gass in more detail, however, lets recap a bit about stem cells.

Stem cells are, as I have discussed before, moving from cutting edge science to applied science. The problem, of course, is that with few exceptions they have not yet been translated into safe and effective treatments. Enter the quacks, who make magical claims for stem cells every bit as implausible as any claim made for reiki or homeopathy.

There are two types of stem cells, embryonic stem cells and adult stem cells. The first (and potentially most useful for the widest variety of conditions) are pluripotent, which means that, given the right signals, they are able to differentiate into all derivatives of the three primary germ layers in the embryo: ectoderm, endoderm and mesoderm. In other words, they are able to become virtually any kind of cell. You can easily see why embryonic stem cells are attractive as a treatment: In theory, they could be used to replace or repair any organ or tissue, if only they can be targeted to where they are needed and the correct signals are deduced to induce them to differentiate into the needed cell type(s). Unfortunately, these are enormous challenges. Thats even ignoring the religious objections to the use of these cells, whose isolation requires the destruction of embryos.

The second kind of stem cell is known as adult stem cells. Adult stem cells are undifferentiated cells that remain in children and adults and can proliferate to replenish dying cells and regenerate damaged tissues. They are also known as somatic stem cells. Their defining properties include, as for embryonic stem cells, self-renewal (the ability to divide indefinitely while remaining undifferentiated) and multipotency, the ability to differentiate into several, but not all, cell types. In contrast to embryonic stem cells, though, adult stem cells are limited in the types of cells into which they can regenerate. For example, there are hematopoietic stem cells, which can give rise to all the types of blood cells: red blood cells, B lymphocytes, T lymphocytes, natural killer cells, neutrophils, basophils, eosinophils, monocytes, and macrophages; mesenchymal stem cells, which can give rise to a variety of cell types: bone cells (osteoblasts and osteocytes), cartilage cells (chondrocytes), fat cells (adipocytes), and stromal cells that support blood formation; and neural stem cells, which are found in the brain and can produce the brains three major cell types: nerve cells (neurons) and two categories of non-neuronal cellsastrocytes and oligodendrocytes.

Finally, there is a cell type known as an induced pluripotent stem cell (iPSC), which are adult stem cells that have been genetically manipulated to express genes and factors important for maintaining the defining properties of embryonic stem cells, but it is not yet known whether these cells can be used as embryonic stem cells and their uses now, for the most part, consist of in vitro studies and show potential usefulness in transplantation medicine. One problem with iPSCs is that viral vectors are needed to introduce the genes that dedifferentiate the adult stem cells, making their use in humans as yet problematic.

When it comes to translating what we know thus far about the basic science of stem cells, here remain many problems to be overcome, such as how to target the cells, how to induce them to differentiate properly, and how to prevent them from becoming cancers, this last problem being the crux of the story of Jim Gass. Thus far, in general, most attempted clinical uses of stem cells involve the isolation of these cells from either the bone marrow or blood (or sometimes from adipose tissue). My basic opinion is that, outside of hematopoietic malignancies, for which bone marrow ablation and stem cell transplantation have been a standard of care for many years, most adult stem cell applications are not ready for prime time yet and should not be administered outside of the context of an IRB-approved clinical trial (not dubious clinical trials in Mexico, where, as I discussed in the context of the story of Gordie Howe, the standards are so lax).

The NYT story about Jim Gass is entitled A Cautionary Tale of Stem Cell Tourism, and you can see why from the very first passage:

The surgeon gasped when he opened up his patient and saw what was in his spine. It was a huge mass, filling the entire part of the mans lower spinal column.

The entire thing was filled with bloody tissue, and as I started to take pieces, it started to bleed, said Dr. John Chi, the director of Neurosurgical Spine Cancer at Brigham and Womens Hospital in Boston. It was stuck to everything around it.

He added, I had never seen anything like it.

Tests showed that the mass was made up of abnormal, primitive cells and that it was growing very aggressively. Then came the real shocker: The cells did not come from Jim Gass. They were someone elses cells.

Mr. Gass, it turned out, had had stem cell therapy at clinics in Mexico, China and Argentina, paying tens of thousands of dollars each time for injections in a desperate attempt to recover from a stroke he had in 2009. The total cost with travel was close to $300,000.

Like Gordie Howe, Mr. Gass, a former chief legal counsel for Sylvania who lives in San Diego, was a stroke victim. As described in the article, Gass problems began on May 10, 2009, when he woke with a terrible headache. He fell to the floor, unable to move. Two years after his stroke, he was able to walk with a leg brace and a cane, as his left arm was useless, and his left leg was weak. He was also a perfect mark for the stem cell clinics: Desperate enough to try almost anything and wealthy enough to be able to afford to spend $300,000 over several years chasing a cure. And where did he turn first?

Uh-oh:

I began doing research on the internet, Mr. Gass said. He was particularly struck by the tale of the former football star and professional golfer John Brodie who had a stroke, received stem cell therapy in Russia and returned to playing golf again.

So Mr. Gass contacted a company, Stemedica, that had been involved with the clinic, and learned about a program in Kazakhstan. When Mr. Gass balked at going there, the Russian clinic referred him to a clinic in Mexico. That was the start of his odyssey.

The program in Kazakhstan to which Mr. Gass was referred by Stemedica appears to have been Altaco XXI, which is the distributor for Stemedica products there. Now, you might be suspicious of a stem cell therapy that is administered in Kazakhstan, and you would have reason to be. On its website, Stemedica includes a slide show about Kazakhstan that presents it as very modern, particularly Astana, where one finds the National Research Medical Center (NRMC), which Stemedica advertises on its YouTube channel with a promotional video:

Of course, I dont know for sure that Mr. Gass was referred to the National Research Medical Center in Astana. Oddly enough, none of the stories about him that I read specifically name any of the clinics where he was referred or treated, other than to state that they were in Kazakhstan, Mexico, China, and Argentina, something I find very frustrating, as I wanted to check out their websites and see what sorts of claims they were making. In fact, in a local story revisiting Gordie Howes case in light of Mr. Gass complication, its explicitly noted that the story has been updated to remove a reference to where Jim Gass was treated. Very odd indeed. One wonders if there were legal threats. I only inferred that it was likely that Stemedica referred Gass to the NRMC in Astana based on its relationship and its featuring an NRMC video on its YouTube page. Its quite possible, albeit from what I can tell unlikely, that it was somewhere else.

Wherever Mr. Gass was referred first, wherever he ended up being treated, this all sounds very familiar, as its similar to what Stemedica did with Gordie Howe: If the patients not eligible for one of its US clinical trials, refer the patient to an international location to receive its product. In Howes case, it was to Clinica Santa Clarita, a Tijuana clinic that uses Stemedica products through a Mexican company called Novastem. In Mr. Gass case, it was (very likely) the National Research Medical Center in Kazakhstan. Mr. Gass didnt want to go to Kazakhstan, however; so the NRMC referred him to a clinic in Mexico, and Mr. Gasss odyssey began, ultimately encompassing three different countries. I dont know whether or not it was Clinica Santa Clarita, the same clinic that treated Gordie Howe, where Gass was treated. I perused a bunch of news stories about him and couldnt find the name of any of the actual clinics where Mr. Gass was treated listed anywhere (which, again, I found very odd). In a way, I suppose it doesnt matter, although, given my blogging about Gordie Howe, I couldnt help but note the Stemedica connection to Mr. Gass story.

What is, unfortunately, not surprising is that Mr. Gass was snared the same way so many patients are snared, as the NYT described. Also, he didnt listen to his doctors or his sister-in-law:

Mr. Gasss doctors and his sister-in-law, Ruth Gass, tried to dissuade him. Ms. Gass called the clinics and demanded evidence that their treatments worked.

Some of the clinics hung up, saying they would not talk to a terrified relative, she said. Websites often had data but it did not hold up to basic analysis, Ms. Gass said, and when the data was published, it appeared in vanity journals. Other clinics simply told her, People get dramatically better.

She raged against the clinics, telling them: You ought to be ashamed for charging $40,000 a shot. You prey on people like my brother-in-law who is desperate for help.

Then came her kicker: I said, If what you are saying is true, you should get the Nobel Prize. If not, you ought to go to hell. Shame on you.

But Mr. Gass was undeterred. He was willing to spend his money and go anywhere. What did he have to lose? The worst that could happen, he thought, is that he would have no improvement.

Unfortunately, Mr. Gass was very much mistaken, even though the efforts of his sister-in-law went much further than the efforts of most concerned relatives go to find out the truth and dissuade their loved one from an unwise course of action came to naught.

So what happened? Lets take a look at the NEJM letter.

The news coverage Mr. Gass received was important because it revealed that he was the patient described in a letter to the NEJM. The authors, Dr. Aaron Berkowitz et al from Brigham and Womens Hospital, note that the patient was not taking any immunosuppressive drugs, an important point because it means that there was no reason to suspect that he was immunosuppressed and therefore more susceptible to tumor formation. They also note that the clinics described what they injected as a combination of mesenchymal, embryonic, and fetal neural stem cells. The timing isnt well described in the letter, but I found out from other sources that after his last injection in Mexico in September 2014, Mr. Gass developed progressive lower back pain, paraplegia, and urinary incontinence, which lead to an MRI that showed a lesion of the thoracic spinal cord and thecal sac. Berkowitz et al described the lesion thusly:

Neuropathological analysis revealed a densely cellular, highly proliferative, primitive neoplasm with glial differentiation. Short tandem repeat DNA fingerprinting analysis indicated that the mass was predominantly composed of nonhost cells (see the Supplementary Appendix, available with the full text of this letter at NEJM.org). On the basis of histopathological and molecular studies, this glioproliferative lesion appeared to have originated from the intrathecally introduced exogenous stem cells. The lesion had some features that overlapped with malignant gliomas (nuclear atypia, a high proliferation index, glial differentiation, and vascular proliferation) but did not show other features typical of cancer (no cancer-associated genetic aberrations were detected on next-generation sequencing of 309 cancer-associated genes [see the Supplementary Appendix]). Thus, although the lesion may be a considered a neoplasm (i.e., a new growth), it could not be assigned to any category of previously described human neoplasm on the basis of the data we gathered.

So this mass consisted of non-host cells (i.e., not Mr. Gass cells) and was unlike any category of human neoplasm ever described. Given that this tumor, whatever it was, grew very close to where the stem cells (or whatever the various clinics injected) had been injected into the spinal canal, and was largely made up of non-host cells, its hard not to come to any other conclusion other than that this tumor was a result of the stem cell injections. Its not the first case described either. As Berkowitz et al note, there have been reports of proliferative tumors as a result of stem cell therapy published in the literature before, one a brain tumor.

That tumor formation can be a complication of stem cell therapies should not be in the least bit surprising. The cells are at the very least, multipotent, and, if embryonic, pluripotent. As such, they share many characteristics with tumor cells, not the least of which is being immortal (capable of dividing indefinitely) and being able to invade normal tissue. Indeed, this is the very complication that legitimate stem cell researchers do what they can to prevent, and the authors of the NEJM letter note that legitimate stem cell researchers have attempted to reduce the risk of stem-cellrelated tumors in clinical trials by means of the measured administration of pluripotent stem cells or by differentiating stem cells in vitro into postmitotic phenotypes before administration, something that these stem cell tourism clinics are not exactly what Id call vigilant about doing.

There are few areas of biomedical research that have been the subject of such intense press coverage and hype as stem cell therapies. Its not hard to see why stem cells have so captured the imagination of people all over the developed world. In theory, stem cells show extraordinary promise, with the potential to produce game-changing treatments for a wide array of injuries and ailments through their ability, if we can just find out how to activate it, to repair and replace damaged and malfunctioning tissues and organs. Theyre also controversial, especially embryonic stem cells, which run afoul of religious beliefs to the point where conducting such research in the US is difficult. Indeed, Tim Caulfield and Amy McGuire have referred to stem cells as nothing short of a pop culture phenomenon, promoted in particular by the examples of famous athletes using stem cell therapies for a variety of ailments:

Over the past few years, a new dimension of science hype has emerged: the well-publicized use of stem cell therapies by high-profile athletes. Starting with the 2011 story of New York Yankee pitcher Bartolo Colon receiving cell therapy for a chronic shoulder injury and gaining momentum with the announcement of Peyton Mannings neck treatment in Germany, stories of athletes using stem cell treatments as a recovery aid have become common.

Gordie Howe was another example, although he didnt seek out stem cell treatments for a sports-related injury but rather for a far more serious condition. He was aided and abetted by executives at Stemedica, who, through their admiration for Gordie Howe and very likely a keen eye for ways to garner publicity, invited Howes family to receive their stem cell treatment free of charge. While one cant blame a patient with a serious, currently untreatable condition like a stroke, such as Gordie Howe or Jim Gass, for being desperate enough to try anything, one can blame the companies that make claims not backed by science.

Caulfield and McGuire go on to say:

As noted by numerous scholars, only a few stem cell therapies are currently supported by good scientific data. However, despite this clinical reality, unproven stem cell therapies are being marketed to patients throughout the world. The clinics that offer these services often operate outside of ethical or regulatory oversight and exploit individuals at their most vulnerable by offering unproven treatments for incurable and debilitating diseases.

Ask yourself this: Why are so many of these clinics located in countries like Kazakhstan, China, Mexico, and Argentina? Its not because the scientific facilities are so much more advanced there. Its because regulatory oversight protecting patients is lax to nonexistent. For instance, as I discussed in the context of Gordie Howes case, in Mexico Novastem and its Clinica Santa Clarita, which is where stem cells are administered, are federally licensed to use stem cells as the doctor sees fit. Thus, any clinic that is federally licensed can administer stem cells however its doctors wish, regardless of whether they are qualified to administer such treatments or not. As I said at the time, learning this actually opened my eyes greatly as to how a weak regulatory environment in Mexico allows all sorts of dubious stem cell clinics to thrive there. No doubt the same is true in Kazakhstan and other countries with clinics favored by stem cell tourists. Thats not to say that there arent for-profit stem cell clinics in the US. There are, thanks to some loopholes in FDA regulations.

You might wonder how athletes are similar to more desperate patients like Jim Gass. Caulfield and McGuire note:

It is well known that professional athletes will do almost anything to keep a competitive edge or speed recovery from an injury. These characteristics make them an ideal market (and, one could argue, a vulnerable market) for unproven treatments such as those promoted by stem cell clinics throughout the world.

Just as professional athletes will do almost anything to maintain a competitive edge or to recover from injury faster, patients with serious medical conditions for which conventional medicine offers little, such as chronic neurologic deficits secondary to stroke or injury (patients with spinal cord injuries are common recipients of dubious stem cell therapies), feel an even more intense form of the same desperation. The difference is that professional athletes are celebrities, and their testimonials have the power to influence such desperate patients to try unproven stem cell therapies. Indeed, it was the story of pro quarterback John Brodies recovery from stroke that most influenced Mr. Gass to contact Stemedica, whose cells had been used to treat Brodie. The press, particularly the sports press (as exemplified by Keith Olbermanns credulity about Gordie Howes story), love human interest stories of people surmounting all odds to triumph. With few exceptions, they tend not to look too skeptically at the claims being made for stem cell therapies because that would harsh the buzz of a great human interest story. Indeed, I caught a fair amount of flak for just that when I wrote about Gordie Howe.

Advocates of such therapies often ask, Whats the harm? After all, Mr. Gass had a useless arm, a weak leg, and was willing to try anything. Well, hows he doing now? Hes paralyzed from the neck down, except for his right arm, incontinent, and experiencing severe back pain. Worse, as the NYT story notes, his doctors do not know how to stop his tumor from growing:

But now that the doctors knew what the mass was, they were left with another problem: How could they stop it from growing? If it had been an infection, they could have used antibiotics. If it had been cancer, they could have used drugs to target it. This mass, though, was unique.

They decided to try radiation. It seemed to slow the masss growth a bit, maybe even shrink it. But recently, Mr. Gass has had another scan in San Diego, and doctors told him that the mass was growing again.

Asked what he would like others to learn from his experience, Mr. Gass said, Dont trust anecdotes.

His sister-in-law had a different reply: If something sounds too good to be true, it is.

Indeed. Unfortunately, descriptions of stem cells that are too good to be true are the primary means by which dubious stem cell clinics advertise their treatmentsthat, and testimonials from famous athletes like Gordie Howe and John Brodie. The harm consists of patients paying tensor even hundredsof thousands of dollars for unproven treatments unlikely to benefit them, patients like Mr. Gass, and interference with legitimate scientific research and clinical trials to determine if stem cell therapies can work and what theyre useful for.

Unfortunately, when it comes to stem cell clinics and the companies that supply them, all too often its money first, science later if at all.

Tags: Astana, Clnica Santa Clarita, Dave McGuigan, Gordie Howe, Jim Gass, Kazakhstan, Keith Olbermann, Maynard Howe, National Research Medical Center, Novastem, stem cells, Stemedica Cell Technologies

Posted in: Clinical Trials, Ethics, Health Fraud, Science and the Media

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Whats the harm? Stem cell tourism edition Science-Based ...

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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

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The Department of Genetic Medicine at Weill Cornell Medicine is a highly specialized form of personalized medicine that involves the introduction of genetic material into a patients cells to fight or prevent disease. This experimental approach requires the use of information and data from an individual's genotype or specific DNA signature, to challenge a disease, select a medication or its dosage, provide a specific therapy, or initiate preventative measures specifically suited to the patient. While this technology is still in its infancy, gene therapy has been used with some success and offers the promise of regenerative cures.

As none of New York's premier healthcare networks, Weill Cornell Medicine's genetic research program includes close collaborations with fellow laboratories such as Memorial Sloan Kettering Cancer Center for stem cell projects, Weill Cornell Medical College in Qatar and Hamad Medical Corporation in Doha, Qatar and Bioinformatics and Biostatistical Genetics at Cornell-Ithaca.

Department of Genetic Medicine Services

Our translational research program includes many projects in the fields of genetic therapies and personalized medicine, and we arestudying gene therapy for a number of diseases, such as combined immuno-deficiencies, hemophilia, Parkinson's, cancer and even HIV using a number of different approaches.

Patients interested in gene therapy are invited to participate in our full range of services, including:

-diagnostic testing

-imaging

-laboratory analysis

-clinical informatics

-managed therapies

In addition, we offer genetic testing to provide options for individuals and families seeking per-emptive strategies for addressing the uncertainties surrounding inherited diseases.The Department of Genetic Medicine at Weill Cornell is a pioneer in the advancement of genetics for patients and their families. These are the strengths we draw upon as we collaborate with our integrated network of partners, including the #1 hospital in New York, New York Presbyterian, to make breakthroughs a reality for our patients.

For more information or to schedule an appointment, call us toll-free at 1-855-WCM-WCMU.

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Woman's genetic counselors can help you understand your genetic risks for certain diseases, such as cancer, or for passing an existing disease on to a child. Genetic counseling can lead to the earliest detection of diseases you or your baby may be at-risk of developing.

If you are concerned about diseases that run in your family, talk to you doctor about genetic counseling.

Genetics is the study of heredity, the process in which parents pass certaingenesonto their children. A person's physical appearance height, hair color, skin color and eye color are determined by genes. Other characteristics affected by heredity include:

Humans have an estimated 100,000 different genes that contain specific genetic information, and these genes are located on stick-like structures in the nucleus of cells called chromosomes.

When a gene is abnormal, or when entire chromosomes are left off or duplicated, defects in the structure or function of the body's organs or systems can occur. These mutations or abnormalities can result in disorders such as cystic fibrosis, a recessive genetic disease, or Down syndrome, an abnormality that occurs when a baby receives three No. 21 chromosomes.

Each person has more than 100,000 genes that direct the growth and development of every part of the body. These genes carry instructions for dominant or recessive traits that can be passed on to a child.

People who might be especially interested in genetic counseling for pregnancy include:

Women who might be especially interested in genetic testing regarding disease specific genes include:

Should it be necessary, Woman's genetics team,which includes geneticist,Dr. Duane Superneau,can work with your oncologists and breast surgeons in determining a need forgenetic testing and your course of treatment.

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Genetic Counseling | Woman's Hospital | Baton Rouge, LA

Register for November 12 MS in Biotechnology, MS in Bioinformatics, and Certificate in Biotechnology Education Open House in Baltimore.

The Johns Hopkins MS in Biotechnology offers a comprehensive exploration of basic science, applied science, and lab science, with an industry focus. The program gives you a solid grounding in biochemistry, molecular biology, cell biology, genomics, and proteomics.

This 10-course degree program is thesis-optional, part-time, and can be completed fully online. Our curriculum will prepare you to engage in research, lead lab teams, make development and planning decisions, create and apply research modalities to large projects, and take the reins of management and marketing decisions.

Many students like the flexibility of the general degree; it allows them to tailor the coursework to meet their individual career goals. The program also offers five different concentrations: biodefense, bioinformatics, biotechnology enterprise, regulatory affairs, or drug discovery.

Onsite courses are taught during evenings or weekends at either the universitys Homewood Campus in Baltimore, MD or the Montgomery County Campus in Rockville, MD. Courses are also offered in our state-of-the-art lab.

Each year, students of the MS in Biotechnology have the opportunity to apply for a fellowship with the National Cancer Institute at NIH. This fellowship, which requires onsite research as well as onsite courses for the Molecular Targets and Drug Discovery Technologies concentration at the Montgomery Count Campus, awards students with a stipend while providing them with useful experience in the arena of cancer research. Learn more about this fellowship and apply here.

Note: We currently are not accepting applications to the online Master of Science in Biotechnology from students who reside in Kansas. Students should be aware of additional state-specific information for online programs.

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A PARADIGM SHIFT IN MEDICINE

The South African government is unique and unprecedented in the way it has responded to its practitioners of complementary and traditional medicine by creating a Statutory Register for 11 disciplines of Allied or Complementary Medicine under the Allied Health Professions Council [AHPCSA] in 2001.

In doing so there is the danger that it creates a situation whereby each discipline is increasing bound by a defined scope of practice.

This structure is not in tune with trends in other parts of the world. In China medical doctors must do at least one year of traditional medicine, and in India medical doctors are integrating many aspects of traditional Indian medicine into their practice. The same process of integration is happening in most other countries of the world.

In Australia, the Australian Medical Council has established a working party to consider the introduction of complementary therapies into medical schools. More than half the medical schools in Australia plan to expand their courses of complementary medicine offered in this area.

Thus there is a general trend happening within conventional medicine with the introduction of complementary practices, and a very clear integration of these practices into a new philosophical paradigm. It is believed that this integration process is preceding the next paradigm shift in medicine, which will move away from its specialization in biochemistry and drugs, towards a more energetic understanding, as physicists and engineers become part of research teams.

Traditional medicine has also introduced doctors to a more organic and intuitive medicine, where experience is given equal status to experiment. This movement from biochemistry to bio-energy, from experiment to experience, from parts to wholes and from individual organs to complex dynamic systems has been incorporated into a system of medicine now referred to as Integrative Medicine.

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Atlantic Integrative Medical Associates, part of Atlantic Health System and the Chambers Center for Well Being, offers the best of both traditional and Eastern medical philosophies. Our board-certified health care professionals use functional medicine in their approach to treating patients. We are proud to have Mimi Guarneri, MD, serve as the senior integrative medicine advisor.

Our medical team's philosophy is that health is not simply the absence of disease, but a positive energy coming from each of our individual physiologies. We believe, if given the chance, our bodies have remarkable healing capacities, and we simply need to give ourselves a chance to be well. We treat the whole person and create a therapeutic partnership between the patient and the practitioner.

There are a variety of integrative approaches to treat both adult and pediatric health care matters. We often recommend massage, acupuncture, supplements, exercise, mindfulness-based stress reduction and many more, depending on the condition.

Adult patients with any of the following conditions can benefit from working with the team at Atlantic Integrative Medical Associates:

We also offer integrative pediatric care, for conditions including:

Giovanni Campanile, MD Integrative Physician and Cardiologist Director of Nutrition

Annette Cartaxo, MD Integrative Medicine Pediatrician Ken Cartaxo, MD, IBHMIntegrative Family Physician

Hendrieka (Hennie) A. Fitzpatrick, MD Integrative Family Physician

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Singapore: Researchers at the Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, The Netherlands, have discovered that stem cells harvested from fat (adipose) are more potent than those collected from bone marrow in helping to modulate the body's immune system. The research, which was led by led by Dr Helene Roelofs, has been published in in the current issue of Stem Cells Translational Medicine.

For the study, the team used stem cells collected from the bone marrow and fat tissue of age-matched donors. They compared the cells' ability to regulate the immune system in vitro and found that the two performed similarly, although it took a smaller dose for the adipose tissue-derived stem cells (AT-SCs) to achieve the same effect on the immune cells. When it came to secreting cytokines, the cell signaling molecules that regulate the immune system, the AT-SCs also outperformed the bone marrow-derived cells.

The finding could have significant implications in developing new stem-cell-based therapies, as AT-SCs are far more plentiful in the body than those found in bone marrow and can be collected from waste material from liposuction procedures.

Dr Roelofs said that, "Adipose tissue is an interesting alternative since it contains approximately a 500-fold higher frequency of stem cells and tissue collection is simple. Moreover, 400,000 liposuctions a year are performed in the U.S. alone, where the aspirated adipose tissue is regarded as waste and could be collected without any additional burden or risk for the donor. This all adds up to make AT-SC a good alternative to bone marrow stem cells for developing new therapies."

Dr Anthony Atala, editor, Stem Cells Translational Medicine, and director, Wake Forest Institute for Regenerative Medicine, US, said that, "Cells from bone marrow and from fat were equivalent in terms of their potential to differentiate into multiple cell types. The fact that the cells from fat tissue seem to be more potent at suppressing the immune system suggest their promise in clinical therapies."

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What is diabetes?

Diabetes is a disease in which the body is unable to properly use and store glucose (a form of sugar). Glucose backs up in the bloodstream causing ones blood glucose (sometimes referred to as blood sugar) to rise too high.

There are two major types of diabetes. In type 1 (fomerly called juvenile-onset or insulin-dependent) diabetes, the body completely stops producing any insulin, a hormone that enables the body to use glucose found in foods for energy. People with type 1 diabetes must take daily insulin injections to survive.This form of diabetes usually develops in children or young adults, but can occur at any age. Type 2 (formerly called adult-onset or non insulin-dependent) diabetes results when the body doesnt produce enough insulin and/or is unable to use insulin properly (insulin resistance).This form of diabetes usually occurs in people who are over 40, overweight, and have a family history of diabetes, although today it is increasingly occurring in younger people, particularly adolescents.

People with diabetes frequently experience certain symptoms. These include:

In some cases, there are no symptoms this happens at times with type 2 diabetes. In this case, people can live for months, even years without knowing they have the disease. This form of diabetes comes on so gradually that symptoms may not even be recognized.

Diabetes can occur in anyone. However, people who have close relatives with the disease are somewhat more likely to develop it. Other risk factors include obesity, high cholesterol, high blood pressure, and physical inactivity. The risk of developing diabetes also increases as people grow older. People who are over 40 and overweight are more likely to develop diabetes, although the incidence of type 2 diabetes in adolescents is growing. Diabetes is more common among Native Americans, African Americans, Hispanic Americans and Asian Americans/Pacific Islanders. Also, people who develop diabetes while pregnant (a condition called gestational diabetes) are more likely to develop full-blown diabetes later in life.

There are certain things that everyone who has diabetes, whether type 1 or type 2, needs to do to be healthy. They need to have a meal (eating) plan. They need to pay attention to how much physical activity they engage in, because physical activity can help the body use insulin better so it can convert glucose into energy for cells.Everyone with type 1 diabetes, and some people with type 2 diabetes, also need to take insulin injections. Some people with type 2 diabetes take pills called "oral agents" which help their bodies produce more insulin and/or use the insulin it is producing better.Some people with type 2 diabetes can manage their disease without medication by appropriate meal planning and adequate physical activity.

Everyone who has diabetes should be seen at least once every six months by a diabetes specialist (an endocrinologist or a diabetologist). He or she should also be seen periodically by other members of a diabetes treatment team, including a diabetes nurse educator, and a dietitian who will help develop a meal plan for the individual. Ideally, one should also see an exercise physiologist for help in developing a physical activity plan, and, perhaps, a social worker, psychologist or other mental health professional for help with the stresses and challenges of living with a chronic disease. Everyone who has diabetes should have regular eye exams (once a year) by an eye doctor expert in diabetes eye care to make sure that any eye problems associated with diabetes are caught early and treated before they become serious.

Also, people with diabetes need to learn how to monitor their blood glucose. Daily testing will help determine how well their meal plan, activity plan, and medication are working to keep blood glucose levels in a normal range.

Your healthcare team will encourage you to follow your meal plan and exercise program, use your medications and monitor your blood glucose regularly to keep your blood glucose in as normal a range as possible as much of the time as possible. Why is this so important? Because poorly managed diabetes can lead to a host of long-term complications among these are heart attacks, strokes, blindness, kidney failure, and blood vessel disease that may require an amputation, nerve damage, and impotence in men.

But happily, a nationwide study completed over a 10-year period showed that if people keep their blood glucose as close to normal as possible, they can reduce their risk of developing some of these complications by 50 percent or more.

Maybe someday. Type 2 diabetes is the most common type of diabetes, yet we still do not understand it completely. Recent research does suggest, however, that there are some things one can do to prevent this form of diabetes.Studies show that lifestyle changes can prevent or delay the onset of type 2 diabetes in those adults who are at high risk of getting the disease. Modest weight loss (5-10% of body weight) and modest physical activity (30 minutes a day) are recommended goals.

Find more information about diabetes in What You Need to Know about Diabetes A Short Guide available from the Joslin Online Store.

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Diabetes Facts & Information | Joslin Diabetes Center

Arthritis is a broad term that covers a group of over 100 diseases. It has everything to do with your joints -- the places where your bones connect -- such as your wrists, knees, hips, or fingers. But some types of arthritis can also affect other connective tissues and organs, including your skin.

About 1 out of 5 adults have some form of the condition. It can happen to anyone, but it becomes more common as you age.

With many forms of arthritis, the cause is unknown. But some things can raise your chances of getting it.

Arthritis mainly causes pain around your joints. You might also have:

The symptoms can be constant, or they may come and go. They can range from mild to severe.

More-severe cases may lead to permanent joint damage.

Osteoarthritis and rheumatoid arthritis are the most common kinds.

In osteoarthritis,the cushions on the ends of your bones, called cartilage, wear away. That makes the bones rub against each other. You might feel pain in your fingers, knees, or hips.

It usually happens as you age. But if underlying causes are to blame, it can begin much sooner. For example, an athletic injury like a torn anterior cruciate ligament (ACL) or a fracture near a joint can lead to arthritis.

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An Introduction to What Arthritis Is All About

Starting at around the age of 30, human growth hormone production starts declining for both men and women at about 10% per decade. Sermorelin therapy intends to replace this lost HGH with the use of a compound called Sermorelin acetate. Sermorelin is not HGH, it is an amino acid (growth hormone releasing peptide) that stimulates the body to producemore HGH, and it is now widely used as an anti-aging treatment. The release of HGH results in the liver releasing IGF-1 along witha wide range of other effects on the body that will be explained in this article. Sermorelin therapy is a gradual anti-aging therapy that can take a few monthsbefore the effects start to be noticed, although many patients experience positive health effects within just days or weeks of starting the program. If you have even a smallHGH deficiency, you will very likely start noticing positive health effects very soon after starting the treatment.

There are many benefits to restoring your normal HGH production levels. The decline in human growth hormone levels is associated with several aging symptoms such as a lower energy level, lower libido, decreased muscle mass, increased body fat, a slower metabolism, skin aging signs, and more. These symptoms can be treated with Sermorelin therapy, and some of the health benefits are seen more quickly than others. For instance, it may take a while before skin wrinkling and tone improves, but energy levels and libido can often improve much sooner than this. It also can take several weeks before patients start to see weight loss or improved muscle mass, but the effect does occur for a large number of patients. The changes in body composition can be substantial even if you dont exercise, but if you do exercise you will get the most out of the treatment and may see very fast results.

One of the most beneficialSermorelin results is that it can greatly improve your exercise performance and help you recover more quickly and put on muscle faster than before. As you age, your exercise recovery starts to diminish, and you may not be able to perform as much exercise as you were able to when you were younger. Sermorelin can restore your HGH levels so that exercise is easier and so that you have more energy to get through more strenuous workouts. It can take longer for the treatment to improve exercise performance, but the effect does occur, and it can usually be seen within three to six months after starting the treatment. You will also notice that your body fat will start to decrease even without working out at all.

Your body composition gets more and more difficult to change as you start to age. This occurs partially as the result of a lower HGH production, as well as the long term effects of carrying excess fat, which can change your bodys chemistry and metabolism and make it more difficult to lose weight. Sermorelin can help you lose weight by improving fat metabolism. When your body produces HGH, it starts burning adipose tissue for energy, and the treatment can improve a slow metabolism. Several studies have found a correlation between increased HGH production and the burning of visceral fat and abnormal fat, and patients who are exercising while taking Sermorelin see a much faster gain in muscle mass than they would without the therapy. The changes in body composition occur more gradually without exercise, and with regular exercise they can be dramatic and occur within a matter of weeks.

There are some studies that suggest that a human growth hormone deficiency is associated with a higher risk of heart disorders, and Sermorelin may help protect against heart diseases and cardiovascular problems by restoring normal HGH levels. For example, supplementation with HGH has proven to be effective at improving symptoms for patients who are suffering from congestive heart failure. Many patients who develop heart disease and other heart disorders also suffer from a decline in HGH production which can be corrected with Sermorelin therapy. Another major health benefit of the treatment is that bone density can increase back to youthful levels, and this is very important for preventing debilitating injuries as a person ages along with bone and joint disorders.

A decline in HGH is often associated with mood disorders and a low libido, because lower hormone levels can be associated with decreased energy levels. Restoring normal human growth hormone levels can provide a boost in energy and improve mood, and this can be helpful for treating mood disorders like anxiety and depression. Also, a decreased libido is often associated with a human growth hormone decline, and is also associated with a decline in testosterone and estrogen production, but restoring normal HGH levels has been shown to improve libido for both men and women. Patients also often experience an overall general feeling of well-being as the result of the treatment, even for patients who do not have any mood disorders or a low libido. The effects with improved libido and a higher energy level will vary from one patient to another, and these effects sometimes take several months before they are seen.

You may see some of the quicker results mentioned above within a few weeks of time, but to see real results with the therapy you need to continue it for at least three to six months or longer. There is no reason why you cant try Sermorelin for up to twelve months or even longer, because it is a safe treatment and there is no indication that there are any long term health effects from it. To see some of the results like improved skin quality, a more youthful body composition, higher bone density, improved sleep quality and more, you may need to use the therapy for a long period of time, but after you have used it for several months in a row, the higher level of HGH production often maintains itself and you may be able to stop the therapy for a period of time.

First, before you start the treatment, your hormone levels should be measured by a licensed medical provider. In general, you should avoid any hormone therapy program that is not administered by licensed medical doctors because of the potential of serious medical mistakes. The treatment should never be self-administered because the dosage needs to be carefully selected, and there are important considerations for some patients who may not be able to safely try the treatment. The appropriate dosage for Sermorelin can only be known once your hormone deficiency level is known.

Any treatment programs that neglect this important step should be avoided, as it is crucial to perform this test at the start of treatment. Also, you need to be able to consult with a medical provider to ask questions about the treatment, and your medical history needs to be reviewed prior to starting it as well. If you have any questions about the effects of Sermorelin therapy and how the treatment can benefit you and protect your body from aging, contact a medical provider at Nu Image Medical today.

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What Sermorelin Results Can You Expect? - Nu Image Medical

Every sportsfishing captain I know would love just to see a Albino Marlin and to catch the most prized game fish in the World ... well thats just something you can ONLY dream about. These pictures are truly once-in-a-lifetime images. Billfish "experts" agree that these rare albino blue marlin pictures may be the first ever captured on camera. Marlin are among the most prized saltwater game fish in the world. They fight hard, swim fast and jump high once hooked, which makes them a [Read More...]

A week ago, a friend, from the world-class resort Crocodila Bay published an awesome video of a sailfish jumping into a boat and in a heat of panic, the angles jumping out. Within days, the hits to the video numbered over 26,000. A while back, we published a short video on Costa Rica sportsfishing captain, Captain Bobby McGuinness, holder of over 200 world records, and within a short time over 10,000 hits. If you view the videos, notice one thing in common, all have targeted the business using [Read More...]

Two thousand, one hundred and seventy billfish released in three days! If this doesn't make all you avid saltwater anglers scurry to get on the next plane to Costa Rica, we don't know what will. Los Suenos Marina, reputedly the finest marina on the Pacific coast south of the US border (Cabo San Lucas in Mexico and Via del Mar in Chile might beg to differ, but who cares), just hosted Leg 1 of the First Annual Los Suenos Signature Triple Crown Tournament. Forty-two boats [Read More...]

It has always been the policy of Tico Times Directory to be neutral, and only on rare occasions will we write something political and/or controversial, like what we did on the release of a pedophile, the poaching of Costa Rica sea turtle eggs, and real estate scams. However, this morning we received (not one, but many) of the same cookie-cutter emails: Dear Tico Times Directory, I just signed Daniel Woodall's petition "Disassociate, cease financial support and endorsement of the [Read More...]

This August, twenty students, teachers, alumnus and parents from the Meadowbrook School of Weston, Massachusetts, along with three guides from Costa Rican Adventures, traveled through Costa Rica to revisit some of the communities they had been introduced to during the schools class trip in February 2013. The group came with two very ambitious service goals: 1. Building a library at the PANI transitional home in Limon, and 2. Installing solar electricity at the Melleruk School in [Read More...]

About a year and a half ago I made my first Bitcoin (the controversial digital currency) transaction and several weeks ago another one. People have asked me, "Why?" My answer was simple, "To see what it was all about." In the last several months, I have been following the outcome of the Bitcoin ETF Backers Winklevoss Twins, who were made famous by suing Facebook founder, Mark Zuckerberg, for $140 million, claiming he stole their idea to create the popular social networking [Read More...]

Costa Rica is known around the world for its big-game saltwater fishing done on the Pacific and Caribbean coasts, which is done from boats to catch large open-water species such as tuna, wahoo, dorardo and billfish (marlin, sailfish and swordfish). Recently, Sport Fishing Magazine sought input from seven angling experts, historians and authorities and did their top 100 worlds records most amazing and best saltwater catches. Even if Costa Rica has had 100s of world records, they [Read More...]

Travelers to Costa Rica may acquire dengue fever, a potentially life-threatening viral illness, during visits to tropical and subtropical countries. Dengue is transmitted by the bite of infective Aedes mosquitos which are found primarily in urban areas. This disease occurs in most of tropical Asia, the Pacific Islands, the Caribbean Islands, Central and South America, and Africa. There is generally greater risk in urban areas and less risk of dengue in rural areas and at altitudes above 1500 [Read More...]

Costa Rica is no stranger to surveillance; it has always been Central/South America's hub of eavesdropping. Back in the early 1980s the U.S. Embassy in San Jose, Costa Rica was undergoing a remodeling and when finished, the roofs were covered with various sizes of satellite dishes and antennas. These CIA surveillance equipment targeted the conflict areas of Nicaragua, El Salvador, and various hot zones in South America. With support of the U.S. Government, Costa Ricas internet [Read More...]

Each year, around one million individuals, a large part of whom are kids, need to be hospitalize for severe dengue. And each year, numerous Costa Rica media outlets warn about it. Costa Rica Minister of Health stated in 2012, 23,000 dengue cases were reported. Dengue fever and dengue hemorrhagic fever (DHF) are viral diseases transmitted by Aedes mosquitoes, usually Ae. aegypti. The four dengue viruses (DEN-1 through DEN-4) are immunologically related, but do not provide cross-protective [Read More...]

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Annapolis Endocrinology 108 Forbes St, Annapolis, MD 21401 USA

I have had nothing but bad experiences with this group. I had to wait well beyond my appointment time. I was harassed to provide my driver's license for scanning. I don't like having my driver's license scanned every medical appointment.... (More)

I have had nothing but bad experiences with this group. I had to wait well beyond my appointment time. I was harassed to provide my driver's license for scanning. I don't like having my driver's license scanned every medical appointment. No other physician's office has had an issue with this. I've been waiting as calmly as possible for results. In the medical room, they send the nurse supervisor in to tell me my results weren't back. No one was on top of the day's appointments apparently. Blah, blah, blah later, I walked out. This is ridiculous!!!! The doctor didn't even have the decency to give me the information herself!! Time to find a new practice. This website makes me rate the practice. I would give it a 0, but have to provide at least a 1. (Hide)

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Annapolis Endocrinology in Annapolis, MD | 108 Forbes St ...

Dr. Varsha Rathod, MD is board certified in internal medicine and rheumatology and has been successfully enhancing traditional medicine with the benefits of holistic healing since 1995. She is an expert in the field of Functional Medicine.

Dr. Rathod and her staff are committed to your long-term health and happiness. They partner with their patients in a compassionate and caring relationship and empower them with knowledge and hope to bring about healing.

At Preventive Medicine, we get to know you by taking your history and using the latest diagnostic tools and labs. The wisdom from holistic practices is used to target the balancing of key biological functions in your body to keep you healthy and feeling good.

We use the term Holistic because we believe that each one of us is made up of three components: body, mind and spirit. Holistic healing addresses all three of these aspects to bring about your healing as opposed to the conventional way of thinking in which only certain bodily ailments or dysfunctions require the attention of a physician.

Most dysfunction that leads to disease comes from disturbances in key biological processes in your body and mind. These functions pertain to proper digestion, proper and controlled immune and inflammatory responses, proper detoxification, hormonal balance, maintaining our structure and alignment as well as managing our rusting process (oxidative stress-aging), and finally taking care of our psycho-emotional needs.

A Functional Medicine doctor actively works to restore balance to key systems. It is with these functions in mind that we are able to order appropriate testing. All of our patients leave with their lab results and a copy of their office notes, which we review with them after each visit.

We are patient-centered and passionate about working with you to ensure your long-term health and happiness. We take time to listen to you, explain your lab and test results and answer your questions. We then develop an individualized treatment plan that focuses on you as a whole person, rather than just managing a disease that you may have.

If you are tired of being ill, if you would like to understand what made you ill and what you need to do to get better, or if you simply want to maintain your good health, then we believe that you can achieve all these goals at Preventive Medicine.

To learn more about how Dr. Rathod and her staff can help you, please call the office at 314-997-5403 or attend one of our monthly free educational meetings.

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Did you know that kidney stone plagued even the ancient Egyptians [source: NKUDIC]? Or that 26 million Americans have chronic kidney disease [source: National Kidney Foundation]? Hundreds of thousands of people suffer from renal failure each year and undergo dialysis or await a kidney transplant.

But what do your kidneys do? Why are they so important? Don't they just produce urine? In this article, we'll take a close look at our kidneys and find out exactly what they do.

Your kidneys are two bean-shaped organs, each about the size of your fist. They are located in the middle of your back, just below your rib cage, on either side of your spine. Your kidneys weigh about 0.5 percent of your total body weight. Although the kidneys are small organs by weight, they receive a huge amount -- 20 percent -- of the blood pumped by the heart. The large blood supply to your kidneys enables them to do the following tasks:

Your kidneys receive the blood from the renal artery, process it, return the processed blood to the body through the renal vein and remove the wastes and other unwanted substances in the urine. Urine flows from the kidneys through the ureters to the bladder. In the bladder, the urine is stored until it is excreted from the body through the urethra.

Now let's take a look inside your kidneys.

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How Your Kidneys Work - HowStuffWorks

Kidney,male kidneys in situ; human renal systemEncyclopdia Britannica, Inc. in vertebrates and some invertebrates, organ that maintains water balance and expels metabolic wastes. Primitive and embryonic kidneys consist of two series of specialized tubules that empty into two collecting ducts, the Wolffian ducts (see Wolffian duct). The more advanced kidney (metanephros) of adult reptiles, birds, and mammals is a paired compact organ whose functional units, called nephrons, filter initial urine from the blood, reabsorb water and nutrients, and secrete wastes, producing the final urine, which is expelled.

Reptilian and avian kidneys are made up of many tiny lobules that, in birds, are combined into three or more lobes. Collecting tubules from each lobule empty into a separate branch of the ureter. Reptiles have relatively few nephrons (from 3,000 to 30,000 in lizards), while birds have a great number (around 200,000 in a fowl, twice as many as in a mammal of comparable size).

Mammalian kidneys have a somewhat granular outer section (the cortex), containing the glomeruli and convoluted tubules, and a smooth, somewhat striated inner section (the medulla), containing the loops of Henle and the collecting tubules. As the ureter enters the kidney it enlarges into a cavity, the renal pelvis; urine passes into this pelvis from the collecting tubules. Nephrons are numerous (20,000 in a mouse).

kidney: left kidney, and right kidney with cut section viewEncyclopdia Britannica, Inc.In humans the kidneys are about 10 centimetres long and are located beneath the diaphragm and behind the peritoneum. Each kidney contains 1,000,0001,250,000 nephrons that filter the entire five-quart water content of the blood every 45 minutesan equivalent of 160 quarts a day. Of this, only 1 1/2 quarts are excreted; the remainder is reabsorbed by the nephrons.

Damaged kidneys secrete an enzyme called renin that stimulates constriction of the blood vessels. When the damage has been caused initially by high blood pressure, the increase in pressure from the constricted vessels causes more kidney damage.

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kidney | anatomy | Britannica.com

Kidneys are two organs in the abdomen of vertebrates that are shaped like beans. They make urine (the yellow waste water that comes out of the urethra.) They are part of the urinary system. When medical professionals discuss the kidneys, they typically refer to the word renal. For example, renal failure is when the kidneys are sick and do not work.

The prefix nephro- is also used in words to mean "kidneys". For example, a nephrologist is a doctor who studies kidneys.

The kidney makes hormones. The two most important ones that it makes are erythropoetin and renin.

Erythropoetin is made by the kidneys if there is less oxygen in the kidney. Erythropoetin tells the bone marrow to make more red blood cells. So this means there will be more oxygen carried in the blood.

Renin is made by the kidney if there is low blood pressure, low volume of blood, or too low salts in the blood. Renin makes the blood vessels smaller and tells the adrenal gland to make aldosterone (which tells the kidneys to save salts). It also makes a person feel thirsty. All of this makes the blood pressure go up.

The kidney's most important work is keeping homeostasis. Homeostasis means that the body keeps a stable environment inside itself. The body needs to have the consistent and proper amount of water, salt, and acid in the blood. The kidney keeps these things constant.

If there is too much water, the kidney puts more water in the urine. If there is not enough water, the kidney uses less water in the urine.This is why people make less urine when they are dehydrated.

There are many types of kidney diseases. A kidney disease makes the kidneys unable to work perfectly but they do work in part. People can have mild kidney failure and have no symptoms. As long as it does not become worse, people may not even know they have it. Severe kidney failure means very bad failure. The kidneys do not work very much at all. People with severe kidney failure always have symptoms. They may need special care from doctors.

The main kinds of kidney diseases are:

If a person's kidneys do not work properly, they are very sick. If they have severe kidney failure, they cannot live unless they have a replacement for their kidneys.

There are two ways to replace the kidneys: dialysis and transplantation.

Dialysis is when doctors use a machine and medicines to do the work of the kidneys. There are two kinds of dialysis: hemodialysis and peritoneal dialysis.

Peritoneal dialysis is when doctors put a plastic tube into the person's abdomen. Every day the person fills the abdomen with fluid. The extra salts, waste, and water that the body does not need goes into the fluid. Then the fluid comes out and takes the wastes with it. This does part of the job that kidneys do.

Hemodialysis is when doctors take blood from a person, clean the blood with a special kind of filter, called a haemodialyser, and put it back in the person. When the blood is cleaned; water, salts and wastes are taken out of it. This must be done 24 times every week (usually 3 times.) It takes 24 hours to do this each time.

Hemodialysis and peritoneal dialysis are not perfect. They do some of the work of the kidney, but it is not as good as a real kidney. So people who need dialysis are not as healthy. They must take medicines. For example, in kidney failure, the kidneys do not make any erythropoetin. Doctors have to give people erythropoetin so they make enough red blood cells.

A better way to do the kidneys' work is to give the person another kidney. This is called a kidney transplant. Kidney transplants are the most common type of organ transplant. It is the most common because we have two kidneys, but only need one kidney to live. People who are alive can donate a kidney to another person.

Even transplanted kidneys are not the same as kidneys people were born with. A person who gets a renal transplant must take strong medicines to stop their body from attacking the new kidney. Sometimes, after years, the transplanted kidney stops working. But sometimes a patient can get a new transplanted kidney after the first one stops working.

It was widely believed in Europe that the conscience was actually located in the kidneys. This idea was taken from the Hebrew Bible. In modern times, medical scientists have shown kidneys do not have this kind of psychological role.

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Kidney - Simple English Wikipedia, the free encyclopedia

Evidence reviews Increased water intake may help reduce the risk of recurrence of kidney stones but more studies are needed

Kidney stones (also known as calculi) are masses of crystals and protein and are common causes of urinary tract obstruction in adults. For a long time, increased water intake has been the main preventive measure for the disease and its recurrence. In this review only one study was found that looked at the effect of increase water intake on recurrence and time to recurrence. Increased water intake decreased the chance of recurrence and increased the time to recurrence. Further studies are needed.

Stones in the urinary tract are a common medical problem. Half of patients with previous urinary stones have a recurrence within 10 years. Kidney stones can cause pain, blood in the urine, infection, decreased kidney function, and kidney failure. The treatment is to remove the stones from kidney. Extracorporeal shock wave lithotripsy (ESWL) disintegrates stones using shock waves and is a minimally invasive technique. Other minimally invasive methods (percutaneous nephrolithotomy (PCNL)) and retrograde intrarenal surgery (RIRS)) are widely used for kidney stones management because ESWL had limited success rate. This review aimed to compare the effectiveness and complications between ESWL and stones removing using the nephroscopy through the skin at kidney level (PCNL) or ureteroscope through the bladder and ureter to the kidney (RIRS). Five small randomised studies (338 patients) were included. Four studies compared ESWL with PCNL and one study compared ESWL with RIRS. Patients with kidney stones who undergo PCNL have a higher success rate than ESWL whereas RIRS was not significantly different from ESWL. However, ESWL patients spent less time in hospital, duration of treatment was shorter and there were fewer complications.

Lower pole kidney stones are challenging to treat effectively. Many people with lower pole kidney stones undergo shock wave lithotripsy to break up stones so they can be passed from the body in the urine. In some cases, stone fragments can be retained, and these can be difficult to eliminate. Better techniques are needed to help people pass small lower pole kidney stones or fragments that remain following shock wave lithotripsy.

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Kidney stones (also known as calculi) are masses of crystals and protein and are common causes of urinary tract obstruction in adults. For a long time, increased water intake has been the main preventive measure for the disease and its recurrence. In this review only one study was found that looked at the effect of increase water intake on recurrence and time to recurrence. Increased water intake decreased the chance of recurrence and increased the time to recurrence. Further studies are needed.

Stones in the urinary tract are a common medical problem. Half of patients with previous urinary stones have a recurrence within 10 years. Kidney stones can cause pain, blood in the urine, infection, decreased kidney function, and kidney failure. The treatment is to remove the stones from kidney. Extracorporeal shock wave lithotripsy (ESWL) disintegrates stones using shock waves and is a minimally invasive technique. Other minimally invasive methods (percutaneous nephrolithotomy (PCNL)) and retrograde intrarenal surgery (RIRS)) are widely used for kidney stones management because ESWL had limited success rate. This review aimed to compare the effectiveness and complications between ESWL and stones removing using the nephroscopy through the skin at kidney level (PCNL) or ureteroscope through the bladder and ureter to the kidney (RIRS). Five small randomised studies (338 patients) were included. Four studies compared ESWL with PCNL and one study compared ESWL with RIRS. Patients with kidney stones who undergo PCNL have a higher success rate than ESWL whereas RIRS was not significantly different from ESWL. However, ESWL patients spent less time in hospital, duration of treatment was shorter and there were fewer complications.

This summary will tell you about: Changes you can make to your diet and/or medicines you can take that could help lower your chance of getting another calcium stone What research says about how well making changes to your diet and taking medicines work to lower the chance of getting another calcium stone Possible side effects of the medicines This summary can help you talk with your doctor about options to help lower your chance of getting another calcium stone.

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Kidney Stones - National Library of Medicine - PubMed Health