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Category Archives: Genetic Medicine

False-positive results released by direct-to-consumer …

Direct-to-consumer (DTC) genetic tests are advertised and sold directly to the public and offer information that may include ancestry, risks of developing certain conditions, carrier status for autosomal recessive diseases, predicted drug response, and nondisease phenotypic traits such as eye color. Owing to a growing interest in human genetics and personalized health care, there has been an increased demand for this type of testing from the public. There is a growing market for DTC genetic testing, with numerous companies (e.g., Family Tree DNA, My Heritage, 23andMe, currently offering products to the public. DTC tests can provide genetic information to individuals who might otherwise never have been tested due to circumstances such as lack of a family history of disease, inaccessibility of clinical genetic testing, prohibitive cost, or poor insurance coverage. However, unlike clinical genetic tests, DTC tests are not diagnostic and offer risk information for only a limited set of conditions.

In the United States, the Food and Drug Administration (FDA) restricts DTC genetic testing companies from offering products that function as diagnostic tests.1 In April 2017, the FDA authorized one DTC company, 23andMe, to market genetic health risk tests for 10 specific multifactorial conditions (Parkinson disease, late-onset Alzheimer disease, celiac disease, -1 antitrypsin deficiency, early-onset primary dystonia, factor XI deficiency, Gaucher disease type 1, glucose-6-phosphate dehydrogenase deficiency, hereditary hemochromatosis, and hereditary thrombophilia).2 The genetic health risk tests authorized by the FDA provide information on an individuals risk of developing a condition. This is based on the presence or absence of a limited list of genetic variants in the sample, which are statistically enriched in affected versus healthy cohorts but not necessarily causal of the conditions because additional factors such as environment and lifestyle influence an individuals risk. None of the genes associated with these conditions are comprehensively sequenced or analyzed in DTC tests, nor do the tests include all of the genes that have been associated with these conditions. For example, 23andMes genetic health risk test reports on just one variant in each of two genes linked to Parkinson disease: LRRK2 and GBA.3 However, there are additional known pathogenic variants in these two genes as well as additional genes clinically associated with Parkinson disease that 23andMe does not report on, such as SNCA and PARK2/PARKIN.4 Therefore, the consumer is not provided with a comprehensive genetic risk assessment.

In contrast, clinical diagnostic genetic tests are ordered by a patients medical provider and are used to identify or rule out a specific genetic condition. One example is clinical testing for the BRCA1 and BRCA2 genes. If an individual has a pathogenic variant in one of these genes, it is considered diagnostic for hereditary breast and ovarian cancer syndrome, whether or not she or he has a personal diagnosis of cancer. Diagnostic tests are generally comprehensive because the full coding sequences of all genes associated with a disease are analyzed. The test results are intended to be used by a patients medical provider to guide disease management or surveillance.

While the FDA currently prohibits most DTC companies from offering diagnostic genetic tests, some companies provide customers their raw genotyping data if requested, which may include variants in genes associated with Mendelian diseases, including those recommended by the American College of Medical Genetics and Genomics to be reported as incidental or secondary findings in genomic testing. These genes are implicated in highly penetrant genetic disorders for which surgical or other interventions aimed at preventing or significantly reducing morbidity and mortality are available to pathogenic variant carriers.5 Identification of a pathogenic variant in one of these genes could be diagnostic of a medical condition with potential implications for an individuals medical management.

The raw data are often accompanied by a disclaimer that the information is neither validated for accuracy nor intended for medical use. While DTC companies do not provide interpretation of the raw data, patients can access interpretation services through third-party companies, which may charge a fee.6 One recent study on such third-party companies found that several operate by querying publicly available databases, such as dbSNP, and reporting the classification provided in the database, despite reports that the majority of classifications in some publicly available databases are incorrect.6,7 As a result, returned results may interpret particular single-nucleotide polymorphisms as pathogenic, even though clinical laboratories may classify the same variants as unknown significance, likely benign variants, or benign polymorphisms. In addition, they are providing information to the consumer with the assumption that variants in the raw data are true calls and not false positives. The misinterpretation and potential inaccuracy of the raw data pose substantial risks to individuals who obtain this type of information from a DTC company. For these reasons, medical providers should order confirmatory genetic testing from an experienced clinical diagnostic laboratory to guide patients medical care.8,9,10

What drives a consumer to pursue DTC genetic testing, their perceived usefulness of the final results, their understanding of how comprehensive a test may or may not have been, and the utilization of a genetic counselor or another health-care provider vary widely.11,12 DTC results may lead to healthy changes in lifestyle and/or diet,13 but could also result in unfavorable emotions, including anxiety when obtaining unexpected information and disappointment in a lack of comprehensive diagnostic analysis.12 Regardless of whether a health-care provider is involved with the initial ordering of a patients DTC genetic test, the results can lead to important health-related discussions with medical providers. With the ever-growing shortage of genetic counselors and other highly trained genetic professionals, there is concern regarding how DTC test results are interpreted and used among medical providers who often have minimal genetic training.11 It is therefore imperative that consumers, as well as their medical provider(s), are aware of the wide array of limitations to this type of genetic testing, especially in regard to an individuals clinical management. Recent studies have started to evaluate pre- and post-DTC testing encounters with health-care providers including genetic counselors;14 however, to our knowledge, no studies have described outcomes of raw data confirmatory testing referrals to clinical diagnostic laboratories. We aimed to investigate the types of cases referred to our clinical diagnostic laboratory and evaluate the concordance of confirmatory test results for cases with variants identified in the raw data by DTC genetic testing. We also aimed to investigate whether our variant classification was in agreement with that provided by the DTC testing company or third-party interpretation service.15

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Genetic Medicine | List of High Impact Articles | PPts …

Genetic medicine is the integration and application of genomic technologies allows biomedical researchers and clinicians to collect data from large study population and to understand disease and genetic bases of drug response. It includes genome structure, functional genomics, epigenomics, genome scale population genomics, systems analysis, pharmacogenomics and proteomics. The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease.

Related Journals of Genetic Medicine

Cellular & Molecular Medicine, Translational Biomedicine, Biochemistry & Molecular Biology Journal, Cellular & Molecular Medicine, Electronic Journal of Biology, Molecular Enzymology and Drug Targets, Journal of Applied Genetics, Journal of Medical Genetics, Genetics in Medicine, Journal of Anti-Aging Medicine, Reproductive Medicine and Biology, Romanian journal of internal medicine

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Genetic Medicine Isn’t Moving Faster Than the Speed of …

Faye Flam is a Bloomberg Opinion columnist. She has written for the Economist, the New York Times, the Washington Post, Psychology Today, Science and other publications. She has a degree in geophysics from the California Institute of Technology.

Weve had plenty of time to ponder the medical ethics.

Source: Hulton Archive, via Getty Images

Source: Hulton Archive, via Getty Images

The news that scientists may have finally used gene therapy to cure the bubble boy immune disorder, SCID-X1, came as a surprise not because it happened so fast, but because it took so long that it had begun to seem impossible.

Scientists were talking about revolutionizing medicine with gene therapy back in the 1980s, and the first child with a different form of the disease, called SCID-ADA, was given gene therapy in 1992. By 2000, doctors were treating the first kids with SCID-X1. But there were problems. Some of them developed leukemia.

Theres a belief that became pervasive in the 1990s that medicine is moving so fast that ethics cant keep up. Science stories in the news would refer toBrave New World or Frankensteins monster. But now that were living in that long-imagined future, it looks like science isnt keeping pace with the hype, which over the years has included promises of cures tied to the human genome project, the expectation that gene therapy would be commonplace, and even the weird belief that cloning would replace sex as the preferred method of human reproduction.

Things havent quite panned out that way. To better understand why, I talked with Jonathan Kimmelman, a medical ethicist at McGill University in Canada, and an expert in human experimentation. He said that despite all the hype, medical technology doesnt leap forward with every new idea the way other kinds of tech can. The ethics of human research slows things down.

Not that medical ethics is easy. The challenge for ethicists, and for society, is to judge research decisions based on what the scientists knew at the time, not the outcome. Unethical researchers might get lucky, and good ones might get very unlucky. By those standards, he said, the researchers who accidentally caused some SCID patients to get leukemia were still taking an ethically acceptable risk, given the scale of the potential benefits, but researchers at the University of Pennsylvania whose experiment killed an 18-year-old subject were not.

In that 1999 case, Jesse Gelsinger died from an experimental gene therapy aimed at curing a different genetic disorder one less life-threatening than SCID. His immune system mounted a deadly reaction to the virus used to insert the gene into his cells a deactivated cold virus called an adenovirus.

In retrospect, there were problems with that trial financial conflicts of interest, worrisome signs in animal studies that were ignored, and some irregularities in the way the human subjects were treated, said Kimmelman, who has written a book about the case. After the death, lots of people claimed to have seen these problems, but, sadly, none of them took the initiative to blow the whistle.

SCID gene therapy trials progressed more carefully, even though the disease was claiming lives with each passing year. A defective gene prevents the bone marrow from creating working immune cells, so kids with the disease have essentially no immune system. This came to public attention in the 1970s, when doctors found a way to keep the famous bubble boy, David Vetter, alive until the age of 12 by sealing him into a sterile plastic enclosure.

Gene therapy seemed like a promising solution. Doctors knew which genes were damaged, and they knew that they need to get working copies into the patients bone marrow.

But theres another layer of precision needed: It can matter where newly introduced genes get incorporated into the persons chromosomes. Viruses cant be programmed to put them in any specific place. Scientists knew, said Kimmelman, that getting the working versions of these genes into the wrong places might trigger leukemia. They thought it was very unlikely, but realized only after the fact that the viruses tended to preferentially place the genes in locations where they increased risk. In 2002, the SCID-X1 trial was stopped after the disease affected four children.

Over the years, scientists have examined other, safer vectors, and, counterintuitively, found that for SCID-X1, their best bet was a deactivated human immunodeficiency virus (HIV). These latest experiments, done in St. Judes Childrens Research Hospital in Memphis and published in the New England Journal of Medicine, took steps to prevent leukemia. Its still early, but the researchers say that so far the results look promising.

A similar standard should apply to the claimed gene-edited babies allegedly born in China late last year. The ethics has to be judged on the risks that were taken at the time, not the outcome, which may never be known given the secrecy surrounding the research. The babies - twin girls - were essentially human guinea pigs. The only disease involved was the fathers HIV-positive status, but there are safe ways to make sure a fathers virus isnt passed to his offspring.

The risks of this are still relatively unknown, and the fact that the SCID researchers misjudged the risk of giving their subjects leukemia should serve as a warning. Once again, in the case of the Crispr babies, the ethical principles were there, but they were broken maybe by a rogue scientist but possibly by one whose experiments were known and fundedby the Chinese government. Kimmelman points out that people have been debating the ethics of genetic engineering on unborn children since the 1970s, soon after the debut of genetic engineering.

In the medical community, there was almost universal agreement that the experiment was unethical because the twin girls were subject to unnecessary risk. The main problem with genetic technology isnt the need to prevent the birth ofFrankensteins monster, but to follow the ethical principles that Hippocrates wrote about more than 2,000 years ago. The needs of patients have to come first, even if it slows down the pace of progress.

This column does not necessarily reflect the opinion of the editorial board or Bloomberg LP and its owners.

To contact the author of this story:Faye Flam at

To contact the editor responsible for this story:Philip Gray at

Before it's here, it's on the Bloomberg Terminal.

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Genomics and Medicine | NHGRI

It has often been estimated that it takes, on average, 17years to translate a novel research finding into routine clinical practice. This time lag is due to a combination of factors, including the need to validate research findings, the fact that clinical trials are complex and take time to conduct and then analyze, and because disseminating information and educating healthcare workers about a new advance is not an overnight process.

Once sufficient evidence has been generated to demonstrate a benefit to patients, or "clinical utility," professional societies and clinical standards groups will use that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination will also factor in any potential ethical and legal issues, as well economic factors such as cost-benefit ratios.

The NHGRIGenomic Medicine Working Group(GMWG) has been gathering expert stakeholders in a series of genomic medicine meetingsto discuss issues surrounding the adoption of genomic medicine. Particularly, the GMWG draws expertise from researchers at the cutting edge of this new medical toolset, with the aim of better informing future translational research at NHGRI. Additionally the working group provides guidance to theNational Advisory Council on Human Genome Research (NACHGR)and NHGRI in other areas of genomic medicine implementation, such as outlining infrastructural needs for adoption of genomic medicine, identifying related efforts for future collaborations, and reviewing progress overall in genomic medicine implementation.

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Masters in Genetic Counseling –

Masters in Genetics Counseling The curriculum consists of 40 semester hours: 22 semester hours of didactic course work and 7 semester hours of research. Additionally, there are four 8-week clinical rotations, one 3-week laboratory rotation and one 6-week summer clinical rotation required of all students, which provide an additional 11 credit hours.

MS/MA in Genetic Counseling and Bioethics The Departments of Genetics & Genome Sciences and Bioethics offer a dual degree program between the Masters in Genetic Counseling and the Masters in Bioethics Programs. The dual degree program provides a comprehensive curriculum integrating foundational principles of genetics and ethics.

Faculty Leadership Read about the Genetic Counseling Training Program's Leadership.

How to Apply Interested in Applying? Read about how to apply to Case Western Reserve University's Masters of Genetic Counseling.

The Genetic Counseling Training Program offers two degrees: a Master of Science degree in Genetic Counseling or a Masters in Genetic Counseling and Bioethics (dual degree program).

The Master of Science degree in Genetic Counseling is a two-year academic program comprised of didactic coursework, laboratory exposure, research experience and extensive clinical training. The program, directed by Anne L. Matthews, RN, PhD, is an integral component of the teaching and research programs in the Department of Genetics and Genome Sciences at CWRU under the leadership of Dr. Anthony Wynshaw-Boris, MD/PhD, chairman of the department. Program leadership also includes Rebecca Darrah, MA, MS, PhD, Associate Director; and the program's medical director, Anna Mitchell, MD, PhD Associate Professor in the Department of Genetics and Genome Sciences and Medical Director of the Center for Human Genetics, University Hospitals Cleveland Medical Center; and Michelle Merrill, MS, LCGC, Director for Clinical Training and genetic counselor at the Center for Human Genetics, University Hospitals Cleveland Medical Center. The dual degree program in Genetic Counseling and Bioethics is co-directed by Drs. Matthews and Aaron Goldenberg, PhD, Associate Professor of Bioethics and Genetics & Genome Sciences.

The Program is accredited by the Accreditation Council for Genetic Counseling (ACGC) and graduates of the program are eligible to apply for Active Candidate Status and sit for the American Board of Genetic Counseling certification examination. We are extremely proud of our 98.7% pass rate for graduates who sat for the ABGC examination.

The mission and overall objective of the Genetic Counseling Training Program is to prepare students with the appropriate knowledge and experiences to function as competent and empathetic genetic counselors in a wide range of settings and roles. With unprecedented advances in our understanding of the genetic and molecular control of gene expression and development, and in our ability to apply this knowledge clinically, the Program strives to train students who can interface between patients, clinicians, and molecular and human geneticists. Students gain insightful and multifaceted skills that will enable them to be effective genetic counselors, aware of the many new technical advances and often-difficult ethical, legal and social issues that have surfaced in the light of the Human Genome Project. Graduates of the Program will be prepared to work in a variety of settings including both adult and pediatric genetics clinics, specialty clinics such as cancer genetics, cardiovascular genetics. and metabolic clinics, and prenatal diagnosis clinics, as well as in areas of research or commercial genetics laboratories relevant to genetic counseling and human genetics.

A unique aspect of the Genetic Counseling Training Program that it is housed within Case Western Reserve's Department of Genetics and Genome Sciences that is internationally known for both its clinical expertise and cutting edge research in molecular genetics, model organisms and human genetics. Thus, the Department of Genetics and Genome Sciences at CWRU provides an interface between human and medical genetics with basic genetics and provides an exciting atmosphere in which to learn and develop professionally. The direct access to both clinical resources and advanced technologies in human and model organisms affords students with an unparalleled environment for achievement.

The Graduate Program in Genetics in the Department of Genetics and Genome Sciences provides an interactive and collaborative environment for both pre (genetic counseling and PhD students) - and post-doctoral trainees to come together in a collegial atmosphere. By fostering interactions between pre- and post-doctoral trainees in genetic counseling, medical genetics, and basic research at an early stage of their careers, it is anticipated that graduates will be well-rounded professionals with an understanding of the importance of both clinical and basic research endeavors. Moreover, such resources as the Department of Biomedical Ethics, the Center for Genetic Research, Ethics and Law, the Mandel School of Applied Social Sciences, and the Law-Medicine Center provide for an enriched learning experience for students.

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Precision Medicine Executive Summit: Cutting-edge Insights

Our 2018 conference featured keynote address by JeffreyR. Balser, M.D., Ph.D.,President and CEO, Vanderbilt University Medical Centerand Dean of the Vanderbilt University School of Medicine,one of the most progressive and innovative health systems in the country.

CEOs and administrators at the nations leading health networks and hospitals recognize this truth: precision medicine is poised to transform clinical care in ways that experts say will be highly disruptive to health networks, particularly those that are slow to respond to thisimportant trend.

That makes it imperative for CEOs and senior administrators at health networks everywhere to get answers to these two questions:1) How is precision medicine now changing clinical care today, including specific programs already used by networks and physicians to improve patient outcomes, reduce costs, and open the door to new sourcesof revenue?2) What precision medicine strategy is best for my health network and its hospitals?

Attendees will find answers to both questions at our Precision Medicine Institute Symposium 2019, taking place Thursday and Friday, May 2-3 at the Sheraton Hotel in New Orleans, LA.

During this intensive 1 1/2 day conference, the nations first movers and early adopters will discuss their first programs to infuse precision medicine into specific areas of clinical care. On topics ranging from spectacular success in oncology and cancer care, offering patients access to pharmacogenetic testing in primary care settings, and more, youll hear sessions and speakers with up-to-the minute insights so needed to develop the right precision medicine strategy for todays health networks.

Precision medicine is becoming real. It's no longer something for an egghead institution to dabble in. It can be used as a strategic advantage in terms of delivering efficient care, competing with other health systems, ways of making sure that patients are having as much risk mitigated as possible. It's an ideal opportunity to really fine-tune a health system. a really engaged audience and the type you don't normally get to speak with. Having leadership at health systems, at health companies, at other types of health enterprises, you have a different type of thinking. The networking is strong.

Howard McCloud, MDMedical Director, Personalized MedicineMoffitt Cancer Center, Tampa, FL

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