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From: NIH news releases and news items [mailto:[log in to unmask]] On
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Sent: February 29, 2012 09:08
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Subject: CONFUSED BY GENETIC TESTS? NIH'S NEW ONLINE TOOL MAY HELP

U.S. Department of Health and Human Services NATIONAL INSTITUTES OF HEALTH
NIH News NIH Office of the Director (OD) <http://www.nih.gov/icd/od/>
Embargoed for Release: Wednesday, February 29, 2012, 9 a.m. EST

CONTACT: NIH Office of Communications, 301-496-5787, <e-mail:[log in to unmask]>

CONFUSED BY GENETIC TESTS? NIH'S NEW ONLINE TOOL MAY HELP

An 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>.

The Office of the Director, the central office at NIH, is responsible for
setting policy for NIH, which includes 27 Institutes and Centers. This
involves planning, managing, and coordinating the programs and activities of
all NIH components. The Office of the Director also includes program offices
which are responsible for stimulating specific areas of research throughout
NIH. Additional information is available at <http://www.nih.gov/icd/od/>.

NCBI creates public databases in molecular biology, conducts research in
computational biology, develops software tools for analyzing molecular and
genomic data, and disseminates biomedical information, all for the better
understanding of processes affecting human health and disease. NCBI
<www.ncbi.nlm.nih.gov> is a division of the National Library of Medicine
<www.nlm.nih.gov>, the world's largest library of the health sciences.

About the National Institutes of Health (NIH): NIH, the nation's medical
research agency, includes 27 Institutes and Centers and is a component of
the U.S. Department of Health and Human Services. NIH is the primary federal
agency conducting and supporting basic, clinical, and translational medical
research, and is investigating the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and its programs,
visit <www.nih.gov>.

 NIH...Turning Discovery into Health
##

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<http://www.nih.gov/news/health/feb2012/od-29.htm>.

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