StemCell Therapy

(KARK) An Arkansas infant born with a life-threatening genetic disorder has received a multi-million dollar treatment that could save her.

Its also a big milestone since shes the first baby in the state that had the pricey one-time injection paid for by insurance.

When Josephine Gilmore was 4-months-old, doctors found she was born with Spinal Muscular Atrophy, also known as SMA. Its a rare genetic disorder that causes a persons nerves to start dying before theyre born.

How could I let this happen to my kid? Why didnt I see the signs? But you dont know, says Josephines mom Casey Gilmore. Theres not enough education about SMA and how horrible of a disease it is.

The earlier doctors detect the disorder, the better the outcome. Unfortunately many times SMA is not found until a child is a few months old, and that can be too late.

At 6 months nearly 90 percent of the motor neurons in a childs body are dead, Gilmore explains.

There is a gene therapy drug that can help reverse the effects of SMA. Its a one time injection that costs around $2.1 million. Doctors call it life-saving.

Read more:http://bit.ly/35UVgCo

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Infant with life-threatening genetic disorder receives $2.1M injection - KVOA Tucson News

What Can Genes Tell Me About My Cancer Risk?

Before pursuing any kind of genetic testing, it is important to understand that the majority of cancers are not the direct result of genes passed down from your parents. Inherited gene changes sometimes called mutations or variants contribute to somewhere between 5 and 10 percent of all cancers. For that reason, genetic testing and counseling is typically recommended only for people who have had certain types of inherited cancer or who have histories of cancer within their family.

Genetic testing allows healthcare providers to look for inherited gene mutations associated with increased cancer risk, such as BRCA1 and BRCA2 gene changes that have a clear tie to breast and ovarian cancer. For example, women in the general population have roughly a 12 percent chance of developing breast cancer in their lifetime; for women with BRCA mutations, it is closer to 70 percent, according to the NCI. Understanding that risk can help a woman and her healthcare providers plan prevention strategies.

RELATED: My Genetic Test Came Back BRCA Positive. Now What?

Medical-grade genetic cancer testing is typically ordered by your doctor or a specialist, such as a genetic counselor. The tests are noninvasive and typically use a blood or saliva sample.

"Medical-grade testing is developed and approved to answer medical questions [such as]: 'Do I carry a mutation in one of these hereditary cancer genes?'" says Ellen Matloff, the president and CEO of My Gene Counsel, a company that helps clients better understand their genetic testing results, and the former director of the cancer genetic counseling program at Yale University School of Medicine in New Haven, Connecticut. "At-home testing kits are for entertainment and are not developed, or approved, to answer medical questions."

There are several reasons for that. Medical-grade testing is far more thorough, Matloff says. For example, medical-grade testing for BRCA gene mutations analyzes thousands of gene variant options, whereas one leading at-home kit considers just three.

There are also differences in accuracy. A study published in March 2018 in the journal Genetics in Medicine found that 40 percent of gene variants reported in direct-to-consumer tests were false positives and that some of the variants companies told users meant they were at increased risk for certain health conditions are actually considered common gene variants by clinical labs.

An unpublishedstudy presented in October 2019 by Invitae, a medical-grade genetic testing company, found that an individual's ethnicity may have a significant impact on whether their at-home test results are accurate. MUTYH gene mutations, for example, would have been missed in 100 percent of Asian and 75 percent of African American test takers, but only 33 percent of Caucasian individuals.

"Medical-grade testing uses laboratory techniques and validation methods not used by most at-home testing kits," Matloff explains. "So those results are generally more accurate."

Health insurance plans will often cover genetic testing which can cost thousands of dollars but not always, according to the U.S. National Library of Medicine and Breastcancer.org. Direct-to-consumer genetic cancer risk tests tend to be less expensive, so they can be a good starting point for people who are worried about their family history and who do not want to spend too much.

"There are some at-home genetic cancer testing kits that are good, reasonably priced, and convenient for people who do not meet insurance criteria for coverage of traditional medical-grade testing and prefer to pay out of pocket and have the test delivered to their house," Matloff says.

But it is important to remember that everyone from the American Cancer Society to the U.S. Food and Drug Administration (FDA) caution that the tests may provide incomplete or inaccurate information, and urge individuals to talk to their doctors before making any health-related decisions on the basis of those tests.

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What to Know Before You Buy an At-Home Genetic Cancer Risk Test - Everyday Health

NEW YORK, Dec. 30, 2019 /PRNewswire/ --

The Asia Pacific prenatal and newborn genetic testing market is expected to reach US$ 1,679.956 Mn in 2027 from US$ 630.914 in 2018. The market is estimated to grow with a CAGR of 11.6% from 2019-2027.

Read the full report: https://www.reportlinker.com/p05833588/?utm_source=PRN

The key factors responsible for the growth of the market in Asia Pacific are rising burden of genetic diseases among infants, increasing fertility rates and developing healthcare scenario with rising awareness among populace regarding the benefits of prenatal testing.On the other hand, use of digital microfluidics in newborn testing is likely to be a prevalent trend in the future years.

Soaring birth rates among developing economies are responsible for fueling global baby boom.However, the rising birth rate also contributes to rising birth defects and infants suffering from several genetic diseases.

According to a report published by Bill and Melinda Gates Foundation in 2018, there are almost 250 babies born every minute around the globe. Moreover, according to the Centers for Disease Control and Prevention, the fertility rates for Hispanic women was highest in 2017 among Hispanic women with 67.1 births per 1,000 women.Asian countries such as India and China also have high fertility rates due to factors such as effects of religion, inadequate supply of family welfare services, poverty, and others. According to the World Bank in 2016, the fertility rates in India were reported to be 2.23 births per women as compared to 1.80 in the United States and 1.62 in China. Moreover, neighboring countries, such as Pakistan also have alarming rates of fertility. In 2016, the birth rate in Pakistan was reported to be 3.48 births per woman as per the World Bank data. However, the birthrate in India has successfully reduced its high fertility rate, but still is high as compared to other developed nations. According to the United Nations (UN) report published on June 2019, the fertility rate has reduced to 2.1. Therefore, by 2050 additional 273 million people will be added to India's population. The increasing number of parturient women across the world are thus likely to create increasing demand for prenatal and newborn genetic tests across the globe leading to the growth of the market.The Asia Pacific prenatal and newborn genetic testing market, based on the disease indication was segmented into cystic fibrosis, sickle cell anemia, downs syndrome, phenylketonuria, recurrent pregnancy loss, and Antiphospholipid syndrome, and other diseases.In 2018, Down syndrome segment held the largest share of the market, by disease indication.

The highest share of Down syndrome attributes to the high prevalence of this genetic abnormality among fetuses and availability of multiple tests for its screening and diagnostics. However, the sickle cell anemia segment is expected to grow at the fastest rate during the coming year.Some of the major primary and secondary sources for prenatal and newborn genetic testing included in the report are Food & Drug Administration (FDA), Indian Institutes of Technology (IITs), International Trade Administration (ITA), Japan Society of Obstetrics and Gynecology (JSOG), Council of Scientific and Industrial Research (cSIR), Pakistan Down Syndrome Association (PDSA) and others.

Read the full report: https://www.reportlinker.com/p05833588/?utm_source=PRN

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The Asia Pacific prenatal and newborn genetic testing market is expected to reach US$ 1,679.956 Mn in 2027 from US$ 630.914 in 2018 - PRNewswire

Genetic mutations take place deep inside our DNA and can be challenging to identify, let alone treat. Scientists hope that a new deep learning approach will help doctors better combat these disease-causing mutations.

Thanks to their data-crunching abilities, deep learning and A.I. have become increasingly important medical tools in recent years. These models are able to digest and make use of reams of medical data created by the human body by learning patterns from a test data-set and applying those rules to new, incoming data. Far from replacing a physician, these medical machines simply help physicians make connections quicker and more accurately.

While previous deep learning approaches have found success in predicting harmful mutations in the human genome, this new approach is the first to target metal-binding sites of proteins.

The study was published this December in the journal Nature Machine Intelligence and used something called a multichannel convolutional neural network (MCNN) to better understand what kinds of mutations affect disease development. Because metal ions play key structural and physiological roles in the human body, the team focused specifically on the regulation of different metallic nutrients in proteins, something called metalloproteins.

The studys lead author, Hongzhe Sun, a professor and chemistry chair at the University of Hong Kong, said in a statement that this approach can make use of data the team has already collected.

Machine learning and AI play important roles in the current biological and chemical science, said Sun. In my group we worked on metals in biology and medicine using integrative omics approach including metallomics and metalloproteomics, and we already produced a large amount of valuable data using in vivo/vitro experiments. We now develop an artificial intelligence approach based on deep learning to turn these raw data to valuable knowledge, leading to uncover secrets behind the diseases and to fight with them. I believe this novel deep learning approach can be used in other projects, which is undergoing in our laboratory.

But, before bringing in the A.I., the team first had to analyze data collected from these metalloproteins. They found that mutations in different metal ions, usually caused by a change in size or hydrophilic-ness, affected the development of different diseases. For example, zinc-binding site mutations appeared to play a major role in breast, liver, kidney, immune system and prostate diseases while mutations in calcium- and magnesium-binding sites were associated with muscular and immune system diseases. Due to data availability, the research focused on these three metal types.

From there the researchers broke their data into 80 percent training data for the MCNN to learn from and 20 percent testing data to determine how well the MCNN could apply its new knowledge to novel situations. In order to gain useful knowledge from the data sets, the team extracted both spatial and sequential features from the data and fed that to the MCNN.

Using this data the MCNN was able to identify two disease-causing mutations that a previous similar study, PolyPhen-2, had only marked as benign. These mutations were connected to a variety of cancers as well as a rare genetic disorder called JohansonBlizzard syndrome. Apart from these two novel discoveries, the team also found that the MCNN was able to correctly identify disease-causing mutations 82 percent of the time.

In addition to being a useful tool to help researchers make sense of genetic data and to better tackle disease-causing mutations, the research team also hopes that their approach could be used to develop new drugs as well by predicting the binding affinity of small molecules and proteins.

Abstract:

Metalloproteins play important roles in many biological processes. Mutations at the metal-binding sites may functionally disrupt metalloproteins, initiating severe diseases; however, there seemed to be no effective approach to predict such mutations until now. Here we develop a deep learning approach to successfully predict disease-associated mutations that occur at the metal-binding sites of metalloproteins. We generate energy-based affinity grid maps and physiochemical features of the metal-binding pockets (obtained from different databases as spatial and sequential features) and subsequently implement these features into a multichannel convolutional neural network. After training the model, the multichannel convolutional neural network can successfully predict disease-associated mutations that occur at the first and second coordination spheres of zinc-binding sites with an area under the curve of 0.90 and an accuracy of 0.82. Our approach stands for the first deep learning approach for the prediction of disease-associated metal-relevant site mutations in metalloproteins, providing a new platform to tackle human diseases.

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Scientists are using A.I. to unlock humanity's most mysterious mutations - Inverse

The days when an inventor sat behind closed doors tinkering with groundbreaking technology are over. Nowadays, scientists from a variety of backgrounds work together to come up with an invention or a product. They also dare to bring it to the market at an ever-increasing rate. By no means are all innovations a success, but one invention is enough to change the world.

Innovation Origins regularly speaks to innovation leaders, trendsetters who are high on the innovation ladder. Steef Blok has the floor today. The director of TU/e Innovation Lab is responsible at Eindhoven University of Technology for valorization. That entails bringing knowledge from the university back to society. He has to deal on a daily basis with technologies that the rest of the world might not become acquainted with until ten years from now. Technology forms the foundation for the growth of prosperity in the Netherlands. Our daily lives are wholly influenced by it, Blok states.

He talks about the impact of technology in the past and its importance for the future: Our ancestors used to spend all day collecting and preparing food. Technology made it possible for food to be produced on a greater scale. As a result, not everyone had to deal with food and people started providing services. This is how the economy as we know it today came into being. Later on, machines began to take over more and more of the heavy work that people had to do, for example on farms. As a result, the economy grew and so did prosperity.

Sticking with that example for a moment, the advent of machines meant that the farms had to continue to grow as well. You cant put a large machine on one hectare of land. More space is needed for that. Besides that, farmers have to produce more in order to recoup the cost of those machines. Thats how mass production came about.

Although Blok believes that this type of mass production is now going to be phased out again with the advent of intelligent systems. We can connect machines through these intelligent systems. This allows us to remotely switch on the heating at home, but it also enables ASMLs machines to communicate with each other. The possibilities are unimaginable. Even for the aforementioned farmers. For example, a Brabant potato farmer flies drones over his land in order to measure the amount of manure and water thats on the land. He only fertilizes the soil that actually needs it. That saves time and money and is also better for the environment. The harvest will be better as a result too.

A potato is still a potato, but this farmer takes care of his land in a tailor-made way. Thanks to smart technologies, the more of the same mentality is a thing of the past. This can have several meanings. As an example, in the future, a machine could make a different product for one customer than for another.

Universities are indispensable when it comes to these kinds of developments. This is where such systems are conceived. Universities are about ten years ahead of the market. But not everything that is designed at a university will survive on the market. Some projects dont even get further developed into a product. If that does happen, it sometimes doesnt yield the results you envisage. Weve come up with inventions that I thought would make the world a better place. And nobody on the market cared.

I heard, for example, that early menopause is one of the main reasons why some women cant have children. Women are already really reduced in their reproductive ability ten years before the onset of menopause. For example, if someone starts menopause prematurely, at around 40 years of age, they would have already had low fertility from the age of 30. The average age at which a woman has a child in The Netherlands is now over 29 years of age. Technology might offer a solution to this problem.

At the university, we designed a diagnostic chip that allows us to detect the gene that can predict a womans early onset of menopause. As a result, women know at an early age whether they will start menopause early, and they can tailor the time when they can begin to have children. The chip costs about 6 million. So it seemed like the ideal solution. Expensive and often unpleasant treatments with hormones and IVF would be used less as a result. But in the end nobody wanted it. Women didnt want to know at all when they were going to go through menopause. Oh well. The world is full of surprises.

Consumers will ultimately use a product. Naturally, they have to want to do that. This is not only true in the field of healthcare, but also in the field of sustainability and circularity. Things are already improving in those areas. For example, we are already using more and more refurbished computers instead of immediately throwing away all our electronics. We are also handling food more carefully. If we dont want to burn waste anymore, but want to re-use everything instead, that should already be taken into account during the production process. In order to achieve this, entire production processes need to change.

Genetic engineering is also one of the topics that we do a lot of research on at the university, but on which public opinion is really divided. Bananas grow in a greenhouse under controlled conditions at the University of Wageningen. This way the plants are no longer affected by disease. This allows for a constant supply of bananas. These plants are genetically manipulated. I wouldnt hesitate for a second to use that on a large scale.

Genetic engineering in humans is also being explored more extensively. Ive worked in the hospital sector. Here Ive seen people suffer from diseases like cancer and Ive seen people die. Suppose theres a child on its way who has a disease or disability. But when you remove one gene, its completely healthy. Id do it. Although genetic manipulation does pose a risk to people. Imagine, for example, that over time youve designed a perfect human being. But thats true for other technologies: Atomic energy isnt bad, but an atomic bomb is. I admit that the engineered human being is a bit scary. But we can t stop technological progress.

Read more here:
How innovation works: 'A perfect human being is the danger that genetic manipulation poses' - Innovation Origins

US Pentagon in Washington DC.

For years, many of us in the genetics community have strongly suggested thatconsumers think long and hard beforeordering recreational genetic test kits for Christmas or any other occasion. But when thePentagon sends a stern warningto its military members, even Santa needs to listen.

Military Mission at dusk

Why would the Pentagon be worried about our military using at-home DNA kits?A memo issued to service membersfrom the Office of the Secretary of Defensestates that recreational genetic kits could give military personnel inaccurate information about their health. These inaccurate results couldhave negative professional consequences,particularly because military members, who are required to report medical problems, are not covered bytheGenetic Information Nondiscrimination Act (GINA),which prohibits genetic discrimination by employers and health insurers.

It is already well known that thesekits should not be usedto answer serious medical questions based on a personal or family history of disease. Anyone with such a history shouldconsult a certified genetic counselorto ensure that an accurate test is ordered and interpreted correctly.The Pentagon concurs, saying they dont advise against genetic testing altogether, but recommend that service members get genetic information from a licensed professional rather than a recreational kit.

But are there other reasons the Pentagon may be warning against recreational genetic test kits? Couldthis genetic information lead to genetic surveillance, tracking, and grave privacy concerns for military personnel and others who use these kits?

China has already demonstratedthat genetic technology and research findings, intended to help people, can instead be used to harm. It is believed that the Chinese government has collected DNA samples from its citizens throughmandatory physicals to create a large databasethats being used to weed out up to one million Uighurs to be sent toconcentration camps. Although U.S. citizens, thankfully, enjoy greater protections than those in China, this example illustrates that our DNA can give insight into ancestry and ethnic origins that can be used for grave harm.

In fact, genetic data can reportedly be usedto determine how gay a person is, and if you are a 23andMe user who shared your data for research, you may have contributed to this study. Could DNA data be used to determine if military personnel may be gay? And if so, could that information beused against them?

And, of course, none of these companies can guarantee that their databases wont be hacked,as has happened in the past. Recently, GEDmatch, the genealogy company used to track down the Golden State Killer, wasacquired by a company created to work with crime labs. Other testing companies have chosen toshare their user data with the FBI.How will all of this consumer data be used, for good or evil? The truth is, we dont know.

finger print with DNA code at background

What we do know is thatundercover military agentscould likely be identified using a small sample of blood or saliva and large DNA databases. This may be true whether or not they personally have undergone recreational genetic testing,since one of their relatives probably has. For our military working undercover, this means that anonymity is likely a thing of the past.

Read more:
Why The Pentagon Is Warning US Military Not To Use Recreational Genetic Test Kits - Forbes

When Anne Weber became pregnant with her first child at age 28, little did she suspect that, rather than bringing home a bundle of joy, she would have to contend with a cancer diagnosis that would change the course of her life.

At her first ultrasound, not only did she find out that she had miscarried but also that she had a large cyst on one of her ovaries. That cyst turned out to be cancer.

"Because I didn't have a strong family history of cancer, everyone assumed it would be benign," she recalled in an interview with Medscape Medical News. "We were all very surprised when the pathology report came back with ovarian cancer."

Although the incidental finding may have been heartbreaking, it may also have been lifesaving. Because it was caught early, her ovarian cancer was of stage I. She underwent surgery and is now telling her story, 10 years later.

Weber is now a patient advocate at FORCE (Facing Our Risk of Cancer Empowered), a national nonprofit organization dedicated to individuals affected by hereditary breast, ovarian, and related cancers, andpreviously worked for a while at genetic testing company Myriad Genetics.

How Weber developed ovarian cancer at such a young age was initially a mystery. Without a family history and without symptoms or personal risk factors for it, her physician did not suspect a hereditary cancer even though at the time, National Comprehensive Cancer Network (NCCN) guidelines recommended that physicians consider genetic testing for anyone younger than 50 who are found to have ovarian cancer. However, her physician didn't offer genetic testing, or even counsel her about it.

Weber was left with nagging questions. She wanted to know why she'd gotten ovarian cancer and how she could prevent a recurrence. So she started sleuthing around on the Internet.

"When I was diagnosed, I knew nothing about this. Literally, I didn't know what terms to type into the search engine," she said.

When she stumbled onto an online forum that linked her to the NCCN guidelines, the pieces of the puzzle began fitting together.

This was 2009, and she was living in Atlanta at the time. She asked her physician about genetic testing, and her doctor referred her to the only genetic counselor in the city, who was at Emory University. At that time, the wait time for genetic testing was 6 months.

"Six months when you're dealing with something like cancer can be pretty dire," Anne said.

Genetic testing for breast and ovarian cancer has not always been straightforward, and fast-moving research means that genetic testing is becoming more and more complex all the time.

The NCCN may have recently provided a step in the right direction. On December 4, the NCCN released updated clinical practice guidelines on genetic/familial high-risk assessment for breast and ovarian cancer.

The guidelines represent a fairly radical shift from previous recommendations, which focused on BRCA genes, according to Robert Pilarski, MS, LGC, MSW, LSW, a genetics counselor and professor of clinical internal medicine at Ohio State University's Comprehensive Cancer Center. He was also vice chair of the NCCN guidelines panel that updated the guidelines.

The NCCN recommendations remain anchored in strong, unbiased evidence and reflect a conservative approach regarding genes for which there is lack of evidence, he said. But the guidelines also acknowledge a shift toward panel testing and include a table of 17 moderate- and high-penetrance genes that should be considered in addition to BRCA genes. They also provide management recommendations for people who carry these genes.

"Most people now are doing panel testing where the panel involves multiple genes besides BRCA," Pilarski said, "This guideline update is the closest that we've got to a consensus [regarding breast, ovarian, and pancreatic cancer] because it now specifies a set of genes that are reasonable to include in at least a basic panel."

The use of multigene panels is controversial, as previously reported by Medscape Medical News. A study published in early 2019 in the Journal of Clinical Oncology suggested that roughly half of breast cancer patients who carry a pathogenic or likely pathogenic mutation are missed by current genetic testing guidelines. That study used an 80-gene panel, and the authors recommended expanded panel testing for all patients with breast cancer.

Critics shot back, arguing that universal testing is not warranted and that large, multigene panels may create undue anxiety among patients as well as confusion among physicians. Research is in its infancy for many of these genes, and physicians don't know how or even whether to act on results for some of them. That's especially true for variants of unknown significance, which have not been confirmed to increase risk for disease.

Perhaps in response to this controversy, the NCCN guidelines do not recommend universal testing for breast or ovarian cancer. Instead, they provide clinical scenarios in which genetic testing is clinically indicated, may be considered, or has low probability of clinical utility. The NCCN authors hedge their bets by not endorsing for or against multigene panel testing.

"I think we held back from becoming too definitive because there may be times when other genes are appropriate," Pilarski explained. "We didn't want to lock patients out of insurance coverage, and we didn't want to lock ourselves into a set of genes that could change next week with changing evidence."

This "wishy-washiness" over multigene panels creates a problem for Mehmet Copur, MD, FACP, an oncologist who wrote a critical response to the study published earlier this year. He is affiliated with the Morrison Cancer Center in Hastings, Nebraska, and is an adjunct professor at the University of Nebraska Medical Center in Omaha.

"I believe they have tried to please both parties, and they have been too nice," he said. "My personal opinion is that I would go for high-penetrance genes in clinically suspicious settings. I would ignore that disclaimer note and say, 'I'm going to do this 17-gene panel.' "

Going one step further, he suggested the creation of commercially available gene panels based on the NCCN recommendations for these 17 genes.

"There are a wide variety of panels available with different genes on different panels. There is a lack of consensus among experts regarding which genes should be tested in different clinical scenarios. If possible, it would be helpful to create commercially available gene panels based on the updated NCCN recommendations," he said.

In another major change, the guidelines now include pancreatic cancer for the first time. But in contrast to breast and ovarian cancer, the NCCN recommends that all patients with newly diagnosed pancreatic cancer receive genetic testing.

"Approximately 1 in 20 patients with pancreatic cancer will have an inherited susceptibility gene. Most people with pancreatic cancer who carry these mutations do not have a family history of pancreatic cancer, so you can't rely on family history to guide you about who should get genetic testing," Michael Goggins, MD, MBBCH, who was also involved in updating the NCCN guidelines, told Medscape Medical News. Goggins is director of the Pancreatic Cancer Early Detection Laboratory at Johns Hopkins University School of Medicine, Baltimore, Maryland.

Advantages of genetic testing for pancreatic cancer include guidance regarding choice of chemotherapy and the possibility of cascade testing for prevention or earlier detection of pancreatic cancer in family members.

Other additions to the guidelines include new recommendations for genetic testing for individuals with Ashkenazi Jewish ancestry, as well as new or updated recommendations for Li-Fraumeni syndrome and Cowden/PTEN hamartoma tumor syndrome.

The guidelines also offer an expanded section on genetics risk assessment and genetic counseling. Genetic testing has become increasingly complex, and the NCCN emphasizes the importance of genetic counseling throughout the testing process.

It has been 10 years since Anne Weber was diagnosed with ovarian cancer. Because she was diagnosed at a young age (28 years) and her other ovary was unaffected, she opted for surgery to remove only the ovary with the tumor.

After her own Internet research and at her own request, Weber underwent genetic testing. She found out that she is a carrier of the BRCA2 mutation, which carries high risk for breast, ovarian, and pancreatic cancer.

Current recommendations are that people with BRCA2 mutations start breast cancer screening at age 25, so Weber was screened immediately.

Her first breast MRI revealed a mass that was found to be stage I breast cancer. At that point, she chose to have her other ovary removed, as well as both fallopian tubes and both breasts, which significantly reduces her risk for recurrence.

"I'm so incredibly grateful that I found the information. All the guidelines say that I shouldn't even have had my first mammogram at my current age of 39. So there is low likelihood that I would have been diagnosed by now, and it certainly would not have been stage I," she said.

Since her diagnosis, she and her husband have adopted a child.

"Genetic testing isn't right for everyone. People aren't going to make the same decisions I did," she said. "The biggest thing is to understand that being positive doesn't mean that you're going to get cancer. It just allows you to have that circle of care to try to prevent cancer, or at least catch it earlier, when it's more treatable."

NCCN. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2020. Full text

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Heartbreaking News, Then Tumor Find Leads to Genetic Testing - Medscape

Often, science moves ahead incrementally. Yet sometimes it advances in dramatic leaps and bounds that can stir new hopes for medical benefits while shaking society to its very core. We saw both in 2019, as work using the gene-editing tool CRISPR gained momentum.

The year opened with the scientific community scrambling to respond to the news that Chinese researcher He Jiankui had used CRISPR technology to edit the genomes of human embryos. The experiments resulted in the November 2018 birth of twin girls, the first humans with genetically altered germline cells which means their genetic changes are heritable and can be passed on to future generations.

The National Institutes of Health (NIH), a crucial public supporter of biomedical research, is among the many who consider such experiments both irresponsible and unethical. The NIH has not funded any use of heritable gene-editing technologies in human embryos, and it has no intention of doing so.

But NIHs strong stance against heritable gene editing does not mean that we think CRISPR has no role in the future of clinical medicine. This innovative technology possesses enormous potential for therapeutic good if used for making nonheritable genetic changes. In that approach, genetic material is altered only in relevant somatic (nonreproductive) cells, so there is no chance of passing those changes on to future offspring.

NIHs highest priorities in 2019 included supporting research aimed at using nonheritable gene editing to help people with life-threatening disorders, such as sickle cell disease, HIV infection, cancer and muscular dystrophy. Indeed, such applications may offer the best hope not only for treating, but for curing, many of the nearly 6,000 human genetic diseases that still lack treatments.

Now, scientists and leaders around the globe have an obligation to consider the appropriate use if any of heritable human gene editing. This involves scrutinizing the safety of such experiments, including the risk of unintended mutations, as well as a clear-eyed analysis of actual medical need. In our view, the current arguments that the benefits outweigh the risks are surprisingly uncompelling. But our deliberations should not stop there. We must weigh the profound social, ethical and moral issues associated with modifying the germline in ways that could change the human species forever.

Given the significance of these decisions, in March, leading scientists from seven countries led by Eric Lander and including CRISPR pioneers Feng Zhang and Emmanuelle Charpentier called for a five-year international moratorium on the use of gene editing to modify the human germline for clinical purposes. The NIH supports such a moratorium.

Despite the calls for caution, some researchers are forging ahead. In June, Russian molecular biologist Denis Rebrikov announced plans to implant gene-edited embryos into women. Like his Chinese counterpart, Rebrikov planned to use CRISPR to target the CCR5 gene to protect against HIV; he later changed course to focus on GJB2, a gene linked to heritable hearing loss.

Direct editing of embryos is not the only way to alter the human germline in heritable ways: In August, New York-based reproductive biologist Gianpiero Palermo went public with his plans to use CRISPR technology to target a gene that increases cancer risk in human sperm.

But such moves continued to meet vigorous opposition. In August, a number of research groups working on gene-editing therapeutics issued a statement asserting heritable gene editing is currently inappropriate for use in human clinical studies. That same month, a group of international research societies convened to discuss recommendations for appropriate research, which are slated for completion in spring of 2020.

Meanwhile, the World Health Organizations new expert advisory committee, convened in the wake of Hes experiments, sidestepped the issue of a moratorium at its August meeting. It did, however, establish a global registry to track all kinds of human gene-editing research and to offer consultation on governance of such technologies.

A moratorium of at least five years on heritable human gene editing would provide us time to engage in proactive, rather than reactive, discussions about the future of such technology. That discussion has to be inclusive of many societal perspectives. We must never allow our technology to eclipse our humanity. As an interconnected global society, we have a responsibility to ask ourselves some very hard questions about heritable gene editing and the dangers of human hubris. While difficult, this is a debate that we simply cannot afford to postpone.

Francis S. Collins is the director of the National Institutes of Health.

Read more from the original source:
NIH Director on Human Gene Editing: 'We Must Never Allow our Technology to Eclipse our Humanity' - Discover Magazine

Seattle Genetics' (NASDAQ:SGEN) shares soaredas much as 6% after the U.S. Food and Drug Administration approved its bladder cancer drug this month, and the stock now is heading for a total gain of more than 86% for 2019. The biotech company, which has a pipeline of candidate treatments for various cancers, now has a new product on the market and is optimistic about an investigational treatment that recently earned the FDA's "breakthrough" label.

IMAGE SOURCE: GETTY IMAGES.

Let's have a closer look at the two elements that could lift the shares in 2020, even after this year's spectacular performance.

Seattle Genetics announced the accelerated approvalof Padcev (generic name: enfortumab vedotin-ejfv) on Dec. 18 for the treatment of patients with locally advanced or metastatic urothelial cancer. It's the most common kind of bladdercancer, and develops in the cells lining the inside of the bladder. The approval is specifically for adult patients who have previously been treated with platinum-based chemotherapy and a PD-1 or PD-L1 inhibitor. PD-1 and PD-L1 are proteins in the body, and in some cases, they help cancer cells hide from an immune system attack. Inhibitors prevent this from happening. As for Padcev, it targetsthe Nectin-4 protein and leads to the destruction of cancer cells.

A key point in this approval news is that Padcev is the only FDA-approveddrug for this patient set, meaning that it will be an obvious choice and welcome option for many. Seattle Genetics has said about 2,000 to 4,000 new patients per year may be candidates for Padcev, but CEO Clay Siegall said it's difficult to forecast an exact patient population. However, according to GrandView Research, the global urothelial cancer drug market will reach $3.6 billion by 2023, with a compound annual growth rate of 23%. In the U.S., about80,000 new cases of bladder cancer are diagnosed per year, and about 90% of cases are of the urothelial type. So a foothold in this market is a definite growth opportunity for Seattle Genetics.

Seattle Genetics aims to submit tucatinib, its investigational treatment for HER2-positive breast cancer, to the FDA in the first quarter. That's a positive development, but even better is the fact that the FDA already grantedtucatinib breakthrough status based on data from a phase 3 clinical trial. Tucatinib was administered along with Roche'sHerceptin and another drug, and riskof death declined by 34%. The study also showed a 46% decline in risk of disease progression. HER2stands for a protein -- human epidermal growth factor receptor 2. In HER2-positive breast cancer, high levels of this protein within tumors lead to the spread of cancer cells. Tucatinib inhibits enzymes that activate this type of protein.

Breakthrough status is meant to expedite review and approval for treatments that address life-threatening illnesses, so if all goes well, Seattle Genetics could have a third drug on the market sooner rather than later. (The company also sells Adcetrisfor Hodgkin lymphoma.) The market for HER2-positive breast cancer is expected to increase by 54% from its 2015 level to $9.89 billion in 2025, according to GlobalData.

Padcev and tucatinib both address conditions where the need for new treatments is obvious. Though Seattle Genetics' earningshistory hasn't been great -- it missed its EPS forecasts in the past two quarters -- its recent product news offers investors reasons for optimism about revenue streams to come. A new drug on the market and high hopes for another approval are catalysts that should help its share price make healthy gains in the new year.

Excerpt from:
2 Things That Will Propel Seattle Genetics Stock Even Higher in 2020 - The Motley Fool

Nathan Anderson and two of his four sons, Griffin, 10, and Brennan, 4, have been diagnosed with a rare mutation on their Runx1 gene. Besides causing easy bruising, excessive bleeding and a tendency to develop hematomas, the mutation predisposes them to certain blood cancers. Wife and mother, Joy Anderson, has become an outspoken advocate for the condition and her family.

As Joy Anderson tucked her four boys into their beds one recent evening, she asked each of them to reflect on the difficult year the family has had.

Oldest son Griffin, 10, expressed anger and sadness, especially because he isnt allowed to play contact sports anymore.

Maxwell, 9, said hes worried about his siblings and parents.

Nolan, 8, said hes tried to be more compassionate, as you never know what someone is facing.

And then theres sweet-yet-rambunctious Brennan. At just 4 years old, he doesnt really understand whats been going on, only that hes had many doctors visits and needle pricks lately.

A little over a year ago, the Anderson family received news that rocked their world: Brennan had tested positive for the Runx1 gene mutation.

It was the third such blow for the family, who hails from Arlington, a village in Hancock County outside of Findlay, in just a few short months. Griffin first received the same diagnosis in August 2018, followed by their father, Nathan, in November that year and now Brennan.

Maxwell and Nolan, fortunately, do not share the mutation.

Its like a 50-50 chance of being passed down, Joy said. In that case, I felt like we were a living statistic.

But their situation is anything but routine: Only 120 individuals in the world have been diagnosed with the mutation.

Visible symptoms of the disease, which causes platelet abnormalities, include easy bruising, excessive bleeding and a tendency to develop hematomas. But the most distressing part is its predisposition (40% to 70%) to certain blood cancers.

I felt like I couldnt breathe, like I was having a panic attack, the 41-year-old mother said of the diagnoses. I tried to Google everything to learn more about it, and there isnt really much out there.

Three people she loves dearly half her family now must be followed regularly by a hematologist and undergo bone marrow biopsies annually to monitor for cancer.

Little did I know we would have such a domino effect after we all got tested, she said.

***

The Andersons had spent much of the first nine years of Griffins life trying to figure out what caused his bruising and the huge goose eggs that would form on his body.

Sure, he was an active boy, but with each small accident, his parents couldnt help notice the extreme results that sometimes landed him in the hospital to ensure his blood had clotted.

Doctors in Toledo offered a general diagnosis of low platelets and a blood disorder when Griffin was 3 and prescribed special medication to use during surgeries.

He began seeing various hematologists at Nationwide Childrens Hospital. However, the family still had few answers until a doctor suggested genetic testing in August 2018.

Thats when the Andersons met Elizabeth Varga, a genetic counselor at Childrens, who counseled them what results might yield.

Four weeks after Griffin had blood drawn for the genetic tests, Varga called to say they found something.

Runx1 is a gene involved in the making of blood cells. If there is an abnormality, it can impair the production of platelets, which help blood clot.

Patients are predisposed to something called myelodysplastic syndrome, which is essentially a pre-leukemia state that can evolve and change to be a cancer of the blood, Varga told the family.

Typically, thats acute myeloid leukemia, which is most common in adults over 60, but the Runx1 mutation increases the risk for AML in all ages.

So basically from the time of birth youre kind of set up to have that evolution, Varga said. However, not all patients that have a Runx1 abnormality will ever get cancer right now we dont have a great way to gauge who will and who wont.

To deliver this news to Joy was very difficult, said Varga, who has three young sons.

Each phone call, Joy said, felt like a sucker punch, as she struggled to learn what this would mean for their family.

***

In the days leading up to Griffin and Brennans first bone marrow biopsy in December 2018, the elder brother watched YouTube videos of the minor but uncomfortable procedure, which is the best way to monitor changes.

I was interested in it, the fifth grader said. I want to be an ER doctor when I grow up.

Joy and Nathan Anderson said its a bit of an odd blessing that two sons have the diagnosis as they dont have to be alone.

I usually tell Brennan to be brave and we can do it, Griffin said, adding that his youngest brothers silly antics calm his nerves.

The mutation presents differently in Griffin and Brennan. Both bruise easily, but its much more pronounced in Griffin.

Brennan has dealt with a slew of pulmonology issues asthma, seven bouts with pneumonia that may be linked with the gene mutation.

Discovered only 20 years ago, very little research has been done on the mutation, making it difficult to discern what symptoms are caused by it, said Katrin Ericson, executive director of the Runx1 Research Program, a California-based nonprofit group that funds research and provides patient support.

Earlier this year, Joy Anderson was the first patient family representative to speak at the organizations annual conference. Shes become very active in increasing awareness of the Runx1 mutation, which is underdiagnosed, Ericson said.

Based on epidemiological estimates, between 2,000 and 18,000 people in the United States could be living with it.

Ericson said the organization is thrilled that, in May, the National Institutes of Health launched the first longitudinal, natural history study of Runx1. The Andersons are one of 25 or so families participating, and they traveled to Bethesda, Maryland, in June for testing.

These patients have really been struggling with this most of their lives, Ericson said. They had no idea they had this mutation. Maybe they were misdiagnosed at first.

There can be guilt felt by parents for passing it unknowingly to their children, and Joy said her husband feels this way.

Nathan his parents tested negative never experienced symptoms, he said. However, looking back, routine blood work often showed low platelet counts.

Shortly after the diagnosis, I was at a charity event for work and I was chopping wood, Nathan said. I noticed that I had bruises up and down my arm.

During his first bone marrow biopsy at Ohio State Universitys Arthur G. James Cancer Hospital last December, doctors discovered he had myelodysplastic syndrome (MDS), or pre-leukemia. Hes unsure what this means for the future, except continued monitoring.

Nathan and his two sons will travel to the NIH in the summer for follow-up biopsies. (Griffin and Brennan had a second one in June with zero changes.)

The boys also have blood drawn every few months.

Our hope is if we do more frequent surveillance for MDS, that we will hopefully be able to be preemptive, Varga said. If we do see any progression, the only cure right now is a bone marrow transplant.

However, a bone marrow transplant which requires chemotherapy and a lifetime of immunity-suppressing drugs is a procedure that wouldnt be done without good reason, Varga said.

***

One of the biggest challenges of having a genetic disorder, Joy and Nathan agreed, is explaining it to others.

Some people think were dying and some think were getting chemotherapy, said Nathan, who has taken up running to cope with the diagnosis and keep himself healthy. Others think its not a big deal.

People have questioned the necessity of putting our kids through all this, Joy said. Others have said that everyone would find something wrong if they did genetic testing, she said.

Were trying to monitor and learn more, she said. Im all about being proactive. I feel like what if we never even did anything about it, and then one day this has progressed to leukemia and its so far into it, we cant do anything to help.

That attitude, Varga said, represents a shift shes detected.

Previous generations, there was much more of I dont want to know, Varga said. There was a fear of stigma or discrimination, but younger generations are more embracing (of) knowledge and being powerful.

***

For now though, the Anderson boys will continue to climb on top of their swing set and run in the field behind their house. Theyll fish and ride bikes and wrestle.

Theyre boys still, and we want them to live a normal life, Nathan said. We dont stop.

Griffin has recently fallen in love with playing drums and though his parents dont always appreciate the noise, theyre thankful Griffin has found an outlet other than sports.

The family is thankful for the power the knowledge of this diagnosis ultimately brings them, and with how strong it has shown the six of them to be.

Its a reminder of just how precious life is, Nathan said. You might live a long life or you might run into complications. Its a constant reminder to live every day to the fullest.

award@dispatch.com

@AllisonAWard

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Ohio family faces uncertainty as 2 sons, husband diagnosed with rare genetic disorder - The Columbus Dispatch

Genetic tests sold directly to consumers have been growing in popularity. And Im not just referring to the tests that show your ethnic ancestry, but also those that claim to identify genetic-based health risks. Experts warn that these tests should not be used to inform health decisions without further scrutiny, as the results of these tests can easily be misinterpreted or unreliable.

Business of Healthcare | December 27, 2019

Most genetic testing is done through healthcare providers such as physicians, nurse practitioners and genetic counselors. These providers determine which test is needed, order the test from a laboratory, collect and send the DNA sample, interpret the test results, and share the results with the patient.

Direct-to-consumer genetic testing is different. These tests can be bought online or in stores. Customers send the company a DNA sample and receive their results directly via a secure website or mailed report. Direct-to-consumer genetic testing provides access to genetic information without necessarily involving a healthcare provider.

Dozens of companies offer these tests for a variety of purposes. The most popular uncover genetic variations to make predictions about health, provide information about common traits, andyesoffer clues about a persons ancestry. While the number of companies providing direct-to-consumer genetic testing is growing, along with the range of health conditions and traits tested for, there is very little regulation of these services.

That means if you do use one of these tests to get genetic information about your health, dont make any decisions based on the results without talking to a medical professional.

Continued here:
Business of Health Care: Direct-to-Consumer Genetic Testing - KWBU

(BPT) - An estimated 130 million Americans make resolutions for 2020 with more than half of them focused on health. However, most resolutions are broken by February.

Marjan Champine, a board-certified and licensed genetic counselor at Ancestry, the global leader in family history and consumer genomics, shares tips for thinking about your health in 2020:

1. Small choices matter for a healthier you in the New Year.

Day in and day out, the small choices we make can end up making a big difference in how we feel and our overall health. The journey to better health can be as simple as to:

2. Talking to your family can unlock valuable insights into your health.

Understanding your familys health history and screening for common genetic conditions can provide information about some potential health risks. Armed with this information, there are powerful choices and actions you can take to improve your health, and your familys health, now and in the future.

You dont need to be alone in trying to make sense out of all of this. Genetic counselors can help you connect the dots of your family health history and the results of genetic health screening tests. Services like those offered by Ancestry, which recently launched AncestryHealth, can also empower you with genetic insights to put you on the path to a better, healthier you. When you and your health care provider know more about your risks for certain conditions, thats the start on the path toward better health.

3. Your genes dont need to be your destiny.

While genetics plays an important role in our health, the daily choices we make about our activity, sleep, nutrition and how we handle stress can also play a role in our quest for better health.

Because families share genetics as well as other health-related risk factors such as diet, lifestyle and environment family history is again important in this regard. Most people understand the health benefits of a good diet and exercise. But whats often overlooked is the importance of knowing your familys health history. By sharing your family health history in addition to any genetic health test results with your health care provider, you can work together to create a personalized plan of action to treat, manage and, in some cases, even prevent certain diseases.

4. Specific, achievable, actionable and enjoyable.

I am always looking for fun ways to improve my health. As part of that goal, my resolution this year is to spend more quality time with my family, share stories about our history and keep a record of our health history all in one place using AncestryHealths family health history tool.

If you havent made a New Years health resolution yet, think of a goal thats specific, actionable and achievable. Also think of goals that can be achieved in ways you enjoy.

5. The time is now.

Now is the perfect time to jump in and begin tackling your 2020 New Years health resolutions. Your family health history and genetic screening results could unlock important information that will allow you to manage your health.

The more you know about your genetic risk factors, including your family health history, the more you can take proactive steps, in collaboration with your health care provider. Taking this information and sharing it with your health care provider is important so that, together, you can create a personalized plan of action for a healthier 2020.

Marjan Champine is a board-certified and licensed genetic counselor at Ancestry with a passion for family, health and helping others.

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Resolving for a healthy 2020? Talking to your family is a great way to start - Eagle & Times

The 2010s were the decade in which we were reminded that science is just a method, like the rhythm method. And just like the rhythm method, it can be more or less rigorously applied, sabotaged, overrated, underrated and ignored. If you dont treat it with respect, you may not get the optimal result, but thats not the methods fault.

That may be where the similarities end, because when its done well, science is very effective, and this decade furnished its fair share of breakthroughs to make us gasp. Physicists detected phenomena that were predicted decades ago gravitational waves, the Higgs boson particle indicating that they have been on broadly the right track in their understanding of how the universe works. Astronomers added awe-inspiring detail. Nasa probes found towering ice mountains on Pluto and organic chemistry the stuff of life on Mars and a moon of Saturn. And who could forget the exoplanets those planets orbiting distant stars? Thousands of them were discovered in just the past 10 years. No wonder science fiction is booming.

Biologists didnt slack either. They honed an immunological defence mechanism found in bacteria, Crispr-Cas9, into a powerful gene-editing tool that works in plants and animals including humans. They added several new ancestors to the human family tree and discovered ghostly traces of others as yet unseen and unnamed. And very old DNA started giving up its secrets, after researchers succeeded in extracting it from ancient bodily remains and sequencing it. This threw open a huge window on our species past, revealing that every person alive today is the product of multiple migrations and that relations between different waves of migration have always been complicated. Neanderthals and modern humans probably clobbered each other, for example, but they also interbred.

But this was also the decade in which science was commandeered by all kinds of people with political, social and economic axes to grind. Ancient DNA researchers understood early on the potential for their discoveries to be politicised the science of human origins always has been but they still werent able to fully control the message. Thus we learned about white supremacists engaging in sinister milk-chugging parties in America, supposedly designed to smoke out people of non-European heritage who cant digest lactose, and baseless claims made by some Hindu nationalists that the speakers of the original Indo-European language hailed from the Indian subcontinent. Ancient DNA researchers themselves were accused of engaging in an undignified bone rush, and disrespecting indigenous remains.

Dissing the dead is one thing, dissing the living quite another. The world was shocked when, in 2018, the Chinese biophysicist He Jiankui announced he had used Crispr to edit the genomes of twin girls the first humans born with edited DNA they can pass on. Ethical concerns were raised over whos entitled to know what about private health records as genetic testing becomes mainstream, and over the prohibitive pricing of gene therapies after the first of these was approved in 2012 then taken off the market.

We welcomed the boon of artificial intelligence the fruit of massively increased computing power, cheap memory, advances in data management and new maths and statistics and fretted over its potential negative impact on us.

The first vaccine against Ebola was approved. In the Democratic Republic of the Congo, where Ebola continues to rage, health workers are battling not only the disease, but also hesitation about getting vaccinated. This is now a global problem, and though the reasons for it are complicated and vary according to who is hesitating in the UK and US Andrew Wakefield has a lot to answer for. He abused the scientific method in a previous decade, when he made false claims about a link between the MMR vaccine and autism. Fear of vaccines has come home to roost most visibly, in the form of a global resurgence of measles. Its not all down to him, though. Weve been so well served by vaccines that relatively few people alive today remember what life was like before them how, for example, people wept with joy when Jonas Salks polio vaccine was announced in 1955.

We heard a lot in this decade about how trust in experts has waned, but its difficult to know how much of that perception is real and how much of it comes down to minority opinions bellowed through the sousaphone of social media. In 2019, the US-based organisation Scholars at Risk reported that attacks on higher education communities had more than doubled globally over the previous three years ranging from restrictions on academic expression to wrongful imprisonment and even violence. On the other hand, surveys suggest that trust in scientists is quite stable over the long term, and science funding has been slowly increasing in the worlds richest countries.

Taken together, perhaps what these indicators reflect is that, like the rhythm method, the scientific method is one we should be glad to have in our armoury, but that both have the potential to wreak havoc in the context of a toxic relationship.

Laura Spinney is a science journalist based in Paris. Her latest book is Pale Rider: The Spanish Flu of 1918 and How it Changed the World

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Science made astonishing progress. It was also hijacked by those with an axe to grind - The Guardian

This article, written byMichael Mackley, Dalhousie University, originally appeared on The Conversation and is republished here with permission:

Youve likely heard about direct-to-consumer DNA testing kits. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including identifying the Golden State Killer in California.

Even if you dont find a DNA testing kit under your own Christmas tree, theres a good chance someone you know will.

Whether youre motivated to learn about your health or where your ancestors came from, it is important to understand how these tests work before you spit in the tube.

While exciting, there are things that these genetic testing kits cannot tell users and important personal implications that consumers should consider.

Health, traits and ancestry kits

My main area of research is around clinical genome sequencing, where we look through all of a persons DNA to help diagnose diseases. With a PhD in genetics, I often get questions from friends and family about which direct-to-consumer genetic test they should buy, or requests to discuss results. Most questions are about two types of products: ancestry and health kits.

The most popular ancestry kit is from AncestryDNA. These kits are aimed at giving users insight into where their ancestors might be from. They can also connect users with family members who have used the service and have opted into having their information shared. Another option is Living DNA, which has a smaller dataset but provides more precise information on the U.K. and Ireland.

The most popular health kit is from 23andMe. Depending on the users preference, results include information on predispositions for diseases such as diabetes and Alzheimers, as well as on the likelihood of having certain traits such as hair colour and taste. This company also offers ancestry analysis, as well as ancestry and trait-only kits that dont provide health information. The kit offered by the newer MyHeritage DNA also provides a combined ancestry and health option.

There are other kits out there claiming to evaluate everything from athletic potential to relationship compatibility. But gift-buyers beware: for most of these, in contrast to those above, the evidence is seriously lacking.

How these tests work

For all of these tests, customers receive a kit in the mail. The kits contain instructions for collecting a saliva sample, which you mail back to the company for analysis.

During this analysis, these popular tests do not look at the entire genome. Instead, they employ single nucleotide polymorphism (SNP) genotyping. As humans we all share 99.9 per cent of our DNA. SNPs are essentially what is left: all of the points at which we can differ from our neighbour, making us unique. SNP genotyping looks at a subset of these sites to survey the users genome.

These SNPs are then compared to reference datasets of individuals with known conditions or ancestry. Most results are based on the SNPs shared with a given group. For example, if your results say that you are 42 per cent Southeast Asian, its because 42 per cent of your SNPs were most likely to have come from a group in the reference dataset labelled Southeast Asian. The same goes for traits and health conditions.

How they differ from clinical tests

Direct-to-consumer genetic tests are not a substitute for clinical assessment. The methods used differ dramatically from what is done to diagnose genetic diseases.

In a clinical setting, when suspicion of a genetic condition is high, entire genes are often analyzed. These are genes where we understand how changes in the DNA cause cellular changes that can cause the disease. Furthermore, clinical assessment includes genetic counselling that is often key to understanding results.

In contrast, findings from direct-to-consumer genetic tests are often just statistical links; there is commonly no direct disease-causing effect from the SNPs.

Users may interpret a result as positive, when the risk increase is only minimal, or entirely false. These tests can also give false reassurance because they do not sequence genes in their entirety and can miss potentially harmful variants.

Before you spit in a tube, stop and think

These tests are exciting: they introduce new audiences to genetics and get people thinking about their health. Theyre also helping to build vast genetic databases from which medical research will be conducted.

But for individual users, there are important caveats to consider. Recent reports have questioned the accuracy of these tests: identical twins can receive different results. Furthermore, a lack of diversity in the reference data has caused particular concern regarding accuracy of results for ethnic minorities.

There are also concerns about the way these tests emphasize racial categories that science considers to be social constructs and biologically meaningless.

A recent paper in the British Medical Journal suggests four helpful questions for users to consider. First, users should ask themselves why they want the test. If it is to answer a medical question, then they should speak with their doctor. Users should also think about how they might feel when they receive results containing information they would rather not know.

Users should also consider issues around security and privacy. It is important to read the fine print of the service youre using, and determine whether youre comfortable sharing personal information, now and in the future.

In Canada, policies around genetics have not always kept up with the science. At present, direct-to-consumer genetic testing is unregulated. And, although Canadians have legislative protections against genetic discrimination, those laws are being challenged in the courts, and could change.

Finally, it may also be worth discussing DNA testing with relatives. We share half of our genome with our immediate family members, and smaller fractions with more distant relatives. Genetic results not only affect us, but our family.

Bottom line: Its all for fun

Some users may feel they learn more about themselves. For others, results may bring people closer together not a bad outcome for the holiday season.

At the end of the day, these genetic testing kits are for entertainment: they should not be used to assess health risk in any meaningful way.

If you have any questions related to your health or a genetic disease, discuss these with your family doctor or a suitable health-care professional.

Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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DNA tests might be a fun holiday gift, but beware of the hype - HalifaxToday.ca

Based on the results of the pivotal HER2CLIMB Trial (NCT02614794) presented at the 42nd San Antonio Breast Cancer Symposium (SABCS) held in San Antonio, Texas, December 10 14, 2019, and data published in the New England Journal of Medicine (NEJM), Seattle Genetics confirmed that the company completed the submission of a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) for tucatinib.

Tucatinib is an investigational, oral, small molecule tyrosine kinase inhibitor (TKI). Tyrosine kinases are enzymes that are a part of many cell functions, including cell signaling, growth, and division. But in some cases they may be too active or found at high levels in some types of cancer cells. In that case, blocking them may help keep cancer cells from growing.

Tucatinib is highly selective for HER2.

HER2-positive breast cancerPatients with HER2-positive breast cancer have tumors with high levels human epidermal growth factor receptor 2 (HER2), a protein which promotes the aggressive spread of cancer cells.

According to the American Cancer Society, in the United Stated, an estimated 271,270 new cases of invasive breast cancer were diagnosed in in 2019.[1] In addition, based on the available data, between 15% and 20% of all diagnosed breast cancer cases worldwide are HER2-positive.[2]

Historically, HER2-positive breast cancer tends to be more aggressive and more likely to recur than HER2-negative breast cancer.[2][3][4]

In patients with metastatic breast cancer, the most common site of first metastasis is in bone, followed by lung, brain, and liver.[5][6] In about 50% of metastatic HER2-positive breast cancer cases, patients develop brain metastases over time. [2][7]

Although there have been many advances in the treatment of metastatic HER2-positive breast cancer, there is still a significant unmet medical need for new therapies that can impact metastatic disease, especially brain metastases. There are currently no approved therapies demonstrating progression-free survival or overall survival benefit for the treatment of patients with HER2-positive metastatic breast cancer after progression following treatment with trastuzumab emtanzine.[8][9][10]

Combination therapyIn their NDA, Seattle Generics requested the FDA to approve tucatinib in combination with capecitabine (Xeloda; Genentech/Roche) and trastuzumab (Herceptin; Genentech/Roche) for treatment of patients with locally advanced unresectable or metastatic HER2-positive breast cancer, including patients with brain metastases, who have received at least three prior HER2-directed agents separately or in combination, in the neoadjuvant, adjuvant or metastatic setting.

This setting is the same setting for which the investigational drug was recently granted Breakthrough Therapy designation by the FDA and included patients with brain metastases, who have been treated with trastuzumab, pertuzumab (Perjeta; Genentech/Roche), and trastuzumab emtanzine (Kadcyla; Genentech/Roche).

HER2CLIMB TrialThe HER2CLIMB study is a multinational randomized (2:1), double-blind, placebo-controlled, active comparator, pivotal clinical trial included data from 612 enrolled patients.

The trial results published in the NEJM, presented at the SABCS by Rashmi K. Murthy, M.D., assistant professor of Breast Medical Oncology, demonstrated that tucatinib significantly improved progression free survival (PFS) and overall survival (OS) in patients with advanced HER2-positive breast cancer, with and without brain metastasis.

The trial met its primary endpoint of the study demonstrated that the treatment combination reduced the risk of death by 46% compared with trastuzumab and capecitabine alone. The trial also met its secondary endpoints at interim analysis, demonstrating prolonged OS, reduced the risk of death by 34% and extended PFS by 52% among patients with brain metastasis.

Furthermore, with 41%, the overall response rate was higher in the tucatinib group compared with 23% in the standard of care treatment.

This is a uniquely designed trial in that it allowed patients to enroll if they had untreated, treated stable or previously treated, but progressive brain metastasis, Murthy noted.

Brain metastasizes are common in up to half of patients during the disease course, but there are limited systemic treatment options because most available agents have difficulty crossing the blood brain barrier, she added.

Well toleratedThe study results demonstrated that the triplet combination of tucatinib + capecitabine + trastuzumab was generally well tolerated with no unexpected toxicities. In the tucatinib arm the investigators observed diarrhea, hand-foot syndrome, nausea, fatigue, and vomiting, all mostly low grade, as the reported adverse events. Furthermore, there was a low drug discontinuation rate of 5.7% in the triplet arm compared with 3% in the control arm.

This trial verified that tucatinib is both a safe and effective treatment, Murthy explained during the SABCS.

These results are realy unprecedented for late line therapy in locally advanced, metastatic, breast cancer. This is a major treatment advance for patients who have significant unmet medical need. I believe that tucatinib in combination with trastuzumab and capecitabine could be the new standard of care for patients pretreated with multiple anti-HER2 agents including patients with brain metastasis, Murthy said.

Todays submission marks another important milestone for Seattle Genetics and tucatinib, and a potential advance for patients with either locally advanced or metastatic HER2-positive breast cancer, including those with and without brain metastases, said Roger Dansey, MD, Chief Medical Officer at Seattle Genetics.

We look forward to working with the FDA on the review of this application, he concluded.

Clinical trialsTucatinib, Trastuzumab, and Capecitabine for the Treatment of HER2+ LMD NCT03501979A Study of Tucatinib vs. Placebo in Combination With Ado-trastuzumab Emtansine (T-DM1) for Patients With Advanced or Metastatic HER2+ Breast Cancer NCT03975647A Study of Tucatinib vs. Placebo in Combination With Capecitabine & Trastuzumab in Patients With Advanced HER2+ Breast Cancer (HER2CLIMB) NCT02614794

References[1] American Cancer Society, Cancer Facts and Figures 2018-2019.[2] Loibl S, Gianni L (2017). HER2-positive breast cancer. The Lancet 389(10087): 2415-29.[3] Slamon D, Clark G, Wong S, et al. (1987). Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science 235(4785): 177-82.American Cancer Society (ACS) (2018). Breast cancer HER2 status. Last accessed: December 20, 2018.[4] Kennecke H, Yerushalmi R, Woods R, et al. (2010). Metastatic Behavior of Breast Cancer Subtypes. Journal of Clinical Oncology 28(20): 3271-7.[5] Berman AT, Thukral AD, Hwang W-T, et al. (2013). Incidence and Patterns of Distant Metastases for Patients With Early-Stage Breast Cancer After Breast Conservation Treatment. Clinical Breast Cancer 13(2): 88-94.[6] Duchnowska R, Loibl S, Jassem J (2018). Tyrosine kinase inhibitors for brain metastases in HER2-positive breast cancer. Cancer Treatment Reviews 67: 71-7.[7] Verma S, Miles D, Gianni L, et al. (2012). Trastuzumab Emtansine for HER2-Positive Advanced Breast Cancer. New England Journal of Medicine 367(19): 1783-91.[8] Geyer CE, Forster J, Lindquist D, et al. (2006). Lapatinib plus Capecitabine for HER2-Positive Advanced Breast Cancer. New England Journal of Medicine 355(26): 2733-43.[9] Blackwell KL, Burstein HJ, Storniolo AM, et al. (2012). Overall Survival Benefit With Lapatinib in Combination With Trastuzumab for Patients With Human Epidermal Growth Factor Receptor 2Positive Metastatic Breast Cancer: Final Results From the EGF104900 Study. Journal of Clinical Oncology 30(21): 2585-92.

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Seattle Genetics Submits New Drug Application to the US FDA for Tucatinib - OncoZine

GENETICS is published by the Genetics Society of America, a scholarly society that seeks to deepen our understanding of the living world by advancing our understanding of genetics. Since 1916, GENETICS has published high-quality, original research presenting novel findings bearing on genetics and genomics. The journal publishes empirical studies of organisms ranging from microbes to humans, as well as theoretical work.

While it has an illustrious history, GENETICS has changed along with the communities it serves: it is not your mentor's journal.

The editors make decisions quickly in around 35 days without sacrificing the excellence and scholarship for which the journal has long been known. GENETICS is a peer reviewed, peer-edited journal, with an international reach and increasing visibility and impact. All editorial decisions are made through collaboration of at least two editors who are practicing scientists.

GENETICS is constantly innovating: expanded types of content include Reviews, Commentary (current issues of interest to geneticists), Perspectives (historical), Primers (to introduce primary literature into the classroom), Toolbox Reviews, plus YeastBook, FlyBook, and WormBook . For particularly time-sensitive results, we publish Communications. As part of our mission to serve our communities, we've published thematic collections, including Genomic Prediction, Multiparental Populations, Genetics of Immunity, and Genetics of Sex.

More than just a publisher, the Genetics Society of America is mission-driven and places a high priority on responding to community needs. GENETICS and G3 have long been committed to supporting resources that serve scientists. We were the first journals to partner with Cold Spring Harbor Laboratories to enable seamless deposits of manuscripts from our submission systems straight into the preprint server bioRxiv, as well as from bioRxiv to GENETICS and G3, and we have accepted submissions posted for preprint servers since 2012. Articles feature links to model organism databases like SGD, FlyBase, and WormBase. We have also partnered with Overleaf to provide custom templates for authors who use LaTex, saving them time at submission. Our collaboration with protocols.io, encourages authors to freely share methods from GENETICS articles, helping to increase research reproducibility. The annotation tool Remarq is available on both the GENETICS and G3 websites and allows for collaborative commenting and article sharing. Our latest collaboration with Figshare ensures that supplemental material and data files are permanently associated with an articleand that authors arent limited by file type or size when providing data that support their work. Early online publication means that research investigations are freely accessible and in PubMed within days of acceptance which eliminates delays in discovering the latest science.

For information on the Genetics Society of America, please visit the GSA Home Page.

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About GENETICS | Genetics

Learn about the building blocks of life and the future of medicine.

The way we diagnose and treat diseases is changing, with new technologies enabled by a deeper understanding of the human genome and its relationship to health and disease.

In HMX Fundamentals Genetics, youll get an overview of key concepts behind the evolving fields of human genetics, genomics, and precision medicine.

For upcoming course dates and application information, visit our Courses page.

Experience a full genetics lesson in the HMX Preview course.

Overview

The Central Dogma and Genetic Variation

Mendelian Inheritance of Disease

Identifying Mendelian Disease Genes

Chromosomal Aberrations

The Genetics of Cancer

Common Complex Traits

Human Population Genetics

Beyond the Genome Sequence

Genetics and Precision Medicine

Lecturer in Genetics, Harvard Medical School

As DNA sequencing becomes cheaper and more readily available, the role of genetics in medicine is expanding. With our increasing understanding of the variation in the human genome, we can start to predict how specific changes in DNA sequence will affect an individuals health. Human genetics is extremely complicated, but it is apparent that many human diseases are influenced by genetics. From a medical perspective, this includes everything from rare DNA sequence variants that drastically increase risk of a disease, to common variants that lead to small changes in risk.

Historically, genetics specialists have helped patients to navigate these situations, but genetics is beginning to permeate medicine as a whole. This means that health care professionals across many fields are faced with new questions. When do you recommend genetic testing to a patient? What kind of testing will provide the most conclusive results? How do you help the patient to understand those results, and use them to make decisions about his or her care? Moving forward, an understanding of the principles of genetics and an ability to apply them in todays medical landscape will be an enormous asset for any health care professional.

Even outside of medicine, genetics has a very important presence in our world today, so, fundamentally, what I would like students to take away from this course is a level of genetic literacy that will allow them to navigate the questions and decisions that they will face in their own lives.

Direct-to-consumer genetic testing now allows everyone to learn about their own genetics; these tests can potentially include information about health and disease risk and ancestry that have significant impacts for individuals and their families. When making decisions about genetic testing, it is important to be informed about exactly what you will learn and what the consequences of the results might be down the line.In this course, we put the fundamental principles of human genetics into the context of the world today, which will provide students with the tools and resources to ask the right questions and make informed genetic decisions.

Professor of Medicine, Harvard Medical SchoolAssociate Physician, Brigham and Womens HospitalGeneticist, Brigham and Womens HospitalDirector, Genomes2People Research Program at Brigham and Womens Hospital

Genomics is inherently exciting, and you can see that because of its relationship to forensic law enforcement, reproduction, ancestry, cancer and all sorts of medical developments, and all of the controversy related to direct-to-consumer genetic testing.

The skeleton of genetics is sequencing, and people are building on that with gene expression, proteomics, metabolomics. So there are multiple layers of knowledge and exploration that are generating tremendous excitement in the world, and motivating enormous investment scientifically, educationally, financially, and entrepreneurially. So the question isnt really why Im interested in genomics, the question is why isnt everybody interested in genomics because its so fabulously interesting.

Senior Genetic Counselor and Project Manager, Brigham & Womens Hospital

Genetics is really a subspecialty of all specialties. The more we understand the genetic basis of biology, the more we will understand human health and disease. Having a strong background in genetics will be important as genomic technologies continue to expand and are implemented more and more into clinical care. Understanding how to look for patterns of disease and when to refer a patient to other specialists is an important tool for every health care provider, and as more patients have genetic results in their medical records, having the ability to understand how this is or is not important to your patients medical care will be of the utmost importance. Overall a global knowledge of genetics will help you to provide better care to your future patients.

I hope students are able to grasp some of the basic concepts about genetics and to understand why it is a vital part of medical care. I hope that this background knowledge will be useful to them if and when they care for patients who come to them with a genetic test result, a family history of genetic disease or a presenting genetic diagnosis. I hope this course excites them about the concept of genetics and genomics and encourages them to want to learn more as their career progresses.

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Genetics - HMX | Harvard Medical School

Experimental breeding

Genetically diverse lines of organisms can be crossed in such a way to produce different combinations of alleles in one line. For example, parental lines are crossed, producing an F1 generation, which is then allowed to undergo random mating to produce offspring that have purebreeding genotypes (i.e., AA, bb, cc, or DD). This type of experimental breeding is the origin of new plant and animal lines, which are an important part of making laboratory stocks for basic research. When applied to commerce, transgenic commercial lines produced experimentally are called genetically modified organisms (GMOs). Many of the plants and animals used by humans today (e.g., cows, pigs, chickens, sheep, wheat, corn (maize), potatoes, and rice) have been bred in this way.

Britannica Quiz

Branches of Genetics

Which is the study of the influence that genes and traits have on habits and actions?

Cytogenetics focuses on the microscopic examination of genetic components of the cell, including chromosomes, genes, and gene products. Older cytogenetic techniques involve placing cells in paraffin wax, slicing thin sections, and preparing them for microscopic study. The newer and faster squash technique involves squashing entire cells and studying their contents. Dyes that selectively stain various parts of the cell are used; the genes, for example, may be located by selectively staining the DNA of which they are composed. Radioactive and fluorescent tags are valuable in determining the location of various genes and gene products in the cell. Tissue-culture techniques may be used to grow cells before squashing; white blood cells can be grown from samples of human blood and studied with the squash technique. One major application of cytogenetics in humans is in diagnosing abnormal chromosomal complements such as Down syndrome (caused by an extra copy of chromosome 21) and Klinefelter syndrome (occurring in males with an extra X chromosome). Some diagnosis is prenatal, performed on cell samples from amniotic fluid or the placenta.

Biochemistry is carried out at the cellular or subcellular level, generally on cell extracts. Biochemical methods are applied to the main chemical compounds of geneticsnotably DNA, RNA, and protein. Biochemical techniques are used to determine the activities of genes within cells and to analyze substrates and products of gene-controlled reactions. In one approach, cells are ground up and the substituent chemicals are fractionated for further analysis. Special techniques (e.g., chromatography and electrophoresis) are used to separate the components of proteins so that inherited differences in their structures can be revealed. For example, more than 100 different kinds of human hemoglobin molecules have been identified. Radioactively tagged compounds are valuable in studying the biochemistry of whole cells. For example, thymine is a compound found only in DNA; if radioactive thymine is placed in a tissue-culture medium in which cells are growing, genes use it to duplicate themselves. When cells containing radioactive thymine are analyzed, the results show that, during duplication, the DNA molecule splits in half, and each half synthesizes its missing components.

Chemical tests are used to distinguish certain inherited conditions of humans; e.g., urinalysis and blood analysis reveal the presence of certain inherited abnormalitiesphenylketonuria (PKU), cystinuria, alkaptonuria, gout, and galactosemia. Genomics has provided a battery of diagnostic tests that can be carried out on an individuals DNA. Some of these tests can be applied to fetuses in utero.

Physiological techniques, directed at exploring functional properties or organisms, are also used in genetic investigations. In microorganisms, most genetic variations involve some important cell function. Some strains of one bacterium (Escherichia coli), for example, are able to synthesize the vitamin thiamin from simple compounds; others, which lack an enzyme necessary for this synthesis, cannot survive unless thiamin is already present. The two strains can be distinguished by placing them on a thiamin-free mixture: those that grow have the gene for the enzyme, those that fail to grow do not. The technique also is applied to human cells, since many inherited human abnormalities are caused by a faulty gene that fails to produce a vital enzyme; albinism, which results from an inability to produce the pigment melanin in the skin, hair, or iris of the eyes, is an example of an enzyme deficiency in man.

Although overlapping with biochemical techniques, molecular genetics techniques are deeply involved with the direct study of DNA. This field has been revolutionized by the invention of recombinant DNA technology. The DNA of any gene of interest from a donor organism (such as a human) can be cut out of a chromosome and inserted into a vector to make recombinant DNA, which can then be amplified and manipulated, studied, or used to modify the genomes of other organisms by transgenesis. A fundamental step in recombinant DNA technology is amplification. This is carried out by inserting the recombinant DNA molecule into a bacterial cell, which replicates and produces many copies of the bacterial genome and the recombinant DNA molecule (constituting a DNA clone). A collection of large numbers of clones of recombinant donor DNA molecules is called a genomic library. Such libraries are the starting point for sequencing entire genomes such as the human genome. Today genomes can be scanned for small molecular variants called single nucleotide polymorphisms, or SNPs (snips), which act as chromosomal tags to associated specific regions of DNA that have a property of interest and may be involved in a human disease or disorder.

Many substances (e.g., proteins) are antigenic; i.e., when introduced into a vertebrate body, they stimulate the production of specific proteins called antibodies. Various antigens exist in red blood cells, including those that make up the major blood groups of man (A, B, AB, O). These and other antigens are genetically determined; their study constitutes immunogenetics. Blood antigens of man include inherited variations, and the particular combination of antigens in an individual is almost as unique as fingerprints and has been used in such areas as paternity testing (although this approach has been largely supplanted by DNA-based techniques).

Immunological techniques are used in blood group determinations in blood transfusions, in organ transplants, and in determining Rhesus incompatibility in childbirth. Specific antigens of the human leukocyte antigen (HLA) genes are correlated with human diseases and disease predispositions. Antibodies also have a genetic basis, and their seemingly endless ability to match any antigen presented is based on special types of DNA shuffling processes between antibody genes. Immunology is also useful in identifying specific recombinant DNA clones that synthesize a specific protein of interest.

Because much of genetics is based on quantitative data, mathematical techniques are used extensively in genetics. The laws of probability are applicable to crossbreeding and are used to predict frequencies of specific genetic constitutions in offspring. Geneticists also use statistical methods to determine the significance of deviations from expected results in experimental analyses. In addition, population genetics is based largely on mathematical logicfor example, the Hardy-Weinberg equilibrium and its derivatives (see above).

Bioinformatics uses computer-centred statistical techniques to handle and analyze the vast amounts of information accumulating from genome sequencing projects. The computer program scans the DNA looking for genes, determining their probable function based on other similar genes, and comparing different DNA molecules for evolutionary analysis. Bioinformatics has made possible the discipline of systems biology, treating and analyzing the genes and gene products of cells as a complete and integrated system.

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Genetics - Methods in genetics | Britannica

If, then, progress was to be made in Genetics, work of a different kind was required.

It sprang from genetics and bears the mark of an implicit Darwinian mechanism.

The metaphors of genetics and evolutionary models can be applied.

I've been studying up on biology and genetics; talking to Chang got me interested.

Lindstrom of Iowa has led in research on the genetics of tomatoes, chromosome relations and mode of inheritance.

Most students of genetics realize that a factor difference usually affects more than a single character.

The formalism of memetics reminds many of us of formal languages, as well as of the shorthand used in genetics.

General biology and the science of Genetics are bringing to light much that must be incorporated in Sociology.

The terminology is based on today's fashionable lingo of genetics, and of memetics, its counterpart.

They also opened new horizons for hypotheses in astronomy, genetics, anthropology.

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Genetics Synonyms, Genetics Antonyms | Thesaurus.com

Genetics is a field of scientific study focused on heredity and DNA variation. Genetics professionals need a strong background in biological science to support their work, and most positions in this field require graduate degrees. Learn more about genetics and relevant career options here.

Genes are composed of DNA, the molecule that determines a living thing's unique physical characteristics, such as hair color or immunity to certain diseases. Geneticists are the biological scientists who study genes and how genetic variations affect the body. The job duties of genetics professionals vary by setting. While clinical geneticists and genetics doctors work directly with patients, genetic scientists spend most of their time in research or laboratory settings.

Many careers in this field require doctoral degrees in genetics or closely related fields; however, options are available to those who hold relevant bachelor's or master's degrees. Many geneticists focus their careers on research and laboratory study and typically hold Ph.D.s in genetics, molecular biology or related fields of study.

Geneticists may also serve as clinical geneticists, physicians who provide medical care to patients suffering from hereditary diseases. Clinical geneticists must complete medical school and obtain licensure to practice as physicians. Below is a list of Study.com articles to help you choose the degree program that's right for you.

While online degree programs in genetics are rare, some schools offer correspondence courses that lead to college credit. Students may be able to complete courses or earn degrees in biology and other genetics-related subjects.

While becoming a geneticist is the obvious career path, a variety of other career options are also available for students who do not possess a doctoral degree. Individuals with a master's degree in a related branch of counseling may become genetic counselors, providing therapeutic services to patients who have been diagnosed with hereditary diseases.

With a master's degree in genetics, a student might find employment as a laboratory research assistant. A bachelor's degree related to genetics may also qualify a graduate for a job as a laboratory technician. Here are a few links to articles that may help you discover which career you want to pursue.

According to the U.S. Bureau of Labor Statistics (BLS), jobs for biological scientists were expected to increase 19 percent from 2012-2022, faster than the average for other occupations (www.bls.gov). Advances in research have uncovered new information on genes, and more genetics professionals will be needed to develop medical treatments out of this new information. Although employment rates in this field fluctuate according to government funding and economic climate, the BLS reports that biological scientists, such as geneticists, are less prone to job loss caused by recessions.

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Genetics - Study.com