NIH Establishes Genetic Testing Registry

NIH (National Institutes of Health) logoAn online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at http://www.ncbi.nlm.nih.gov/gtr/.

“I’m delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing,” said NIH Director Francis S. Collins, M.D., Ph.D., who unveiled GTR at NIH’s observance of international Rare Disease Day. “This registry will help a lot of people — from health care professionals looking for answers to their patients’ diseases to researchers seeking to identify gaps in scientific knowledge.”

Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate. To keep pace, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. Such information will include the purpose of each genetic test and its limitations; the name and location of the test provider; whether it is a clinical or research test; what methods are used; and what is measured. GTR will contain no confidential information about people who receive genetic tests or individual test results.

Genetic tests that the Food and Drug Administration has cleared or approved as safe and effective are identified in the GTR. However, most laboratory developed tests currently do not require FDA premarket review. Genetic test providers will be solely responsible for the content and quality of the data they submit to GTR. NIH will not verify the content, but will require submitters to agree to a code of conduct that stipulates that the information they provide is accurate and updated on an annual basis. If submitters do not adhere to this code, NIH can take action, including requiring submitters to correct any inaccuracies or to remove such information from GTR.

In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test’s clinical utility, or how likely the test is to improve patient outcomes.

“Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations and laboratories,” said Wendy Rubinstein, M.D., Ph.D., director of GTR. “What’s more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH.”

GTR is built upon data pulled from the laboratory directory of GeneTests, a pioneering NIH-funded resource that will be phased out over the coming year. GTR is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs. GeneReviews, which is the section of GeneTests that contains peer-reviewed, clinical descriptions of more than 500 conditions, is also now available through GTR.

The GTR database was developed by the National Center for Biotechnology Information (NCBI), part of NIH’s National Library of Medicine, under the oversight of the NIH Office of the Director and with extensive input from researchers, testing labs, health care providers, patients and other stakeholders. To view video tutorials on how to use GTR, go to http://www.youtube.com/playlist?list=PL1C4A2AFF811F6F0B.

Source: NIH News Release

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Feb. 28 Lecture Highlights Medical Education Research

Nicole Borges, Ph,D.The next lecture in the 2011-2012 Translational Research Lecture Series is scheduled on Tuesday, Feb. 28, from 6:00-8:00 p.m. in Room 120 White Hall. The series is presented by the WSU Medical Student Research Club. All BSOM faculty and students are invited to attend.

The lecture will survey “Medical Education Research at WSU” with a panel of faculty and medical student investigators led by Nicole Borges, Ph.D. (above left), professor of community health and assistant dean of medical education research and evaluation. Faculty presenters also include  Brenda Roman, M.D., professor and director of medical student education in psychiatry and assistant dean for curriculum development; Barbara Kraszpulska, Ph.D., assistant Professor of neuroscience, cell biology and physiology; and Raymond P. Ten Eyck, M.D., M.P.H., F.A.C.E.P., professor of emergency medicine and Simulation Center director. Student presenters include Ryan Whitt (M4), Julie Popritkin M4), and Robbie Beaulieu M2). Download the agenda (MS Word).

Dinner will be provided on Feb. 23. Please RSVP to Adam Deardorff (deardorff.2@wright.edu) if you plan to attend.

Related links:

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WSU & PHP Announce Clinical Trials Research Alliance (CTRA)

Wright State University Boonshoft School of Medicine, Wright State Research Institute and Premier Health Partners announced today the formation of the Wright State University & Premier Health Partners Clinical Trials Research Alliance to increase medical research opportunities for physicians and clinicians and boost access to clinical trials in the Dayton region.

This major public-private initiative partners the Dayton region’s strongest biomedical research institution with the clinical resources of the region’s leading hospital system. Premier Health Partners is making a major investment of $4 million over five years to support the infrastructure of the alliance. It is expected to build a $5 million to $7 million annual clinical research portfolio over five years, roughly doubling the total of what the medical school and Premier have today.

The National Institutes of Health, other federal sources and pharmaceutical, biotechnology and medical device companies spent $94 billion on research and development in 2008, according to Center Watch, the leading source of clinical trials information for both clinical research professionals and patients.

The Wright State Research Institute will lead the alliance’s development, providing business infrastructure and administrative support, as well as building a pipeline for new research projects. The administrative support will free doctors and researchers at both Wright State and Premier from much of the extensive paperwork and bureaucracy that can discourage doctors from pursuing clinical research projects, said Ryan Fendley, institute director.

The alliance will be established from existing facilities at Wright State and initially with Miami Valley Hospital and Good Samaritan Hospital as the Premier hospitals, but will be available to all PHP hospitals and practices in the future.

Arthur S. Pickoff, M.D., professor and chair of the medical school’s Departments of Community Health and Pediatrics, and assistant dean for clinical research, will direct the alliance.

“We anticipate this will be a game-changer for clinical research in the Dayton region,” Pickoff said. “This research alliance will give the residents of the Dayton region and beyond the opportunity to participate in a large number of cutting-edge clinical trials, which will result in the development of the medical treatments and cures of tomorrow.” Read more.

For more information about clinical trials, see ClinicalTrials.gov.

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Call for Abstracts: 4th Annual Medical Student Research Symposium Scheduled April 5

RLC (Research Learning Community) logoWright State medical students are invited to present scientific posters on their recent research  at the 4th annual Medical Student Research Symposium on Thursday, April 5,  6:00-8:00 p.m., in the White Hall atrium. The symposium is sponsored by the Medical Student Research Club and the BSOM Office of Research Affairs.

To be eligible for a poster presentation you must meet one of the following requirements:

  • Have engaged in medically-related research (basic science, translational, clinical, educational, or ethics research, including case presentations) at Wright State University as a medical student.
  • Have engaged in medically-related research at Wright State University as an undergraduate/graduate student during the previous academic year.
  • Have engaged in medically-related research at another university while a BSOM student.
  • Have continued to contribute to a previous medically-related research project done at another university (ex: presenting at national meeting) while a BSOM student.

BSOM students who do not meet these requirements (or who are unsure whether they meet them), but would still like to participate in the symposium, should contact Adam Deardorff to discuss specific projects for consideration.

Please submit your abstract using the poster submission template. Email it to Adam Deardorff (deardorff.2@wright.edu) by Friday, March 9.   Please limit your abstract to a single page.  The abstracts will be published and stored in the WSU Libraries’ CORE repository. See symposium proceedings for 2010 and 2011.

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Looking for Summer Research Opportunities?

The Kansas University School of Medicine has compiled  an extensive list of summer research programs for first-year medical students.  Many of these opportunities include a stipend (and therefore cannot be used for elective credit at WSU) and are based at medical centers and research institutions around the country. Thanks to M1 student Mitchell Camp for identifying this resource!

See the full list. Here are several programs in specialties that are a perennial interest for WSU medical students:

Alpha Omega Alpha Carolyn L. Kuckein Student Research Fellowships – Summer term support (a minimum of 8 to 10 weeks) for clinical investigation, basic research, epidemiology and the social sciences as related to medicine. Up to seven fellowships are awarded annually to students in their first, second or third year. Each will provide $5,000 to the student for support of the proposed research project. For more information and to apply go to: www.alphaomegaalpha.org/student_research.html.

American Association for Thoracic Surgery Summer Scholarships in Cardiothoracic SurgeryThe American Association for Thoracic Surgery (AATS) Summer Intern Scholarship program introduces the field of cardiothoracic surgery to first and second year medical students from North American medical institutions. By providing an opportunity to spend 8 weeks during the summer working in an AATS member’s cardiothoracic surgery department, the summer intern scholarship provides medical students with insight into the scientific investigation and study of cardiothoracic surgery. A grant of $2,500 is provided to successful applicants to underwrite their living expenses during the eight weeks of guidance at the selected host institution. Additionally all awardees will receive complimentary registration to the association’s Annual Meeting and postgraduate courses that takes place in May. For more information and to submit an application please visit the AATS website at www.aats.org. Application deadline mid January.

American Heart Association Medical Student Research Program - The Medical Student Research Program provides 8, 10, or 12 weeks awards (continuous in time) to medical students to carry out cardiovascular-related research in a strong laboratory environment. The objective is to provide medical students who are potentially interested in a research career with an opportunity to explore a research career that is broadly related to the cardiovascular area or stroke. Stipend of $600 per week. Program runs between June  – May. Deadline is usually in March. Website: www.americanheart.org/presenter.jhtml?identifier=3013191.

Memorial Sloan-Kettering Summer Fellowship Program – Memorial Sloan-Kettering Cancer Center offers an eight-week summer fellowship research program to medical students interested in the field of oncology and related biomedical research.  The program allows students who have completed their first or second year of medical school the opportunity to conduct basic laboratory or clinical research mentored by MSKCC faculty sponsors.  Summer fellowship participants receive a $5,500 stipend.  Application deadline is late January.  For additional information, visit www.mskcc.org/summerfellowships.  Brochures are also available in 3040E Murphy, School of Medicine Office of Student Affairs.

The Society for Pediatric Research/American Pediatric Society grant – Research opportunity in a pediatric laboratory at a medical school other than KUMC.   The grant will provide a maximum stipend of $4,270 and will enable each student to spend eight to ten weeks working 30-40 hours per week in a research environment.  The application deadline is usually in late January.  Over 300 laboratories and research experiences are available to students.  Website www.aps-spr.org/student_Research/Info.htm

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