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Toward Precision Medicine: First Whole Genomes from TOPMed Now Available for Study

NHLBI project may lead to improved diagnosis, treatment of heart, lung, blood, and sleep disorders

For Immediate Release:
October 24, 2016

WHAT: In a bold step for precision medicine, researchers at the National, Heart, Lung, and Blood Institute (NHLBI) today announced they are releasing for study nearly 9,000 whole genomes, courtesy of participants in the Institute’s Trans-Omics for Precision Medicine Program (TOPMed). The genomes—an organism’s complete set of DNA—are the first ever to be made available by the program, and researchers hope they one day will lead to treatments tailor-made to the individual, as well as shed light on racial and ethnic health disparities.

The TOPMed program focuses specifically on collecting and analyzing genetic data from clinical study participants with heart, lung, blood, or sleep (HLBS) disorders. With Saturday’s announcement, made at the 2016 Annual Meeting of the American Society of Human Genetics in Vancouver, scientists say they came a step closer to their goal of improving the diagnosis and treatment of those complex conditions.

Over the last two years, TOPMed researchers have sequenced more than 8,600 whole genomes, in collaboration with the National Human Genome Research Institute, using data from patients who have volunteered to participate in NHLBI clinical studies, including the Framingham Heart Study, Jackson Heart Study, and Women’s Health Initiative.   TOPMed researchers plan to release whole genome data sets through the Database of Genotypes and Phenotypes (dbGAP) maintained by the National Center for Biotechnology Information. TOPMed plans to release data every six months to an online database accessible to registered biomedical researchers.

WHO: Cashell Jaquish, Ph.D., Program Director for TOPMed, Division of Cardiovascular Sciences, NHLBI, is available to comment on the findings and implications of this research.
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CONTACT: For more information or to schedule an interview, please contact the NHLBI Office of Science Policy, Engagement, Education, and Communications at 301-496-5449 or nhlbi_news@nhlbi.nih.gov (link sends e-mail).