Translation of Genetics Research to Clinical Medicine

The National Heart, Lung, and Blood Institute (NHLBI) is firmly committed to advancing translational research, especially in the field of genetics. An evaluation of the NHLBI’s extramural research grants funded in fiscal year 2008 and fiscal year 2011 was conducted to establish a baseline from which to assess progress in translational research, to assess current commitments and initial progress, and to identify putative gaps, barriers, and opportunities in the Institute’s human genetics research portfolios. A search using the National Institutes of Health’s Research, Condition, and Disease Categorization system was conducted to identify human genetics research project grants in the NHLBI’s genetics research portfolio. The NHLBI genetics portfolios were evaluated using a multidisciplinary research framework continuum that comprises 5 categories: discovery (T0); characterization (T1); clinical utility (T2); implementation, dissemination, and diffusion (T3); and population health impact (T4). Abstracts for the grants were evaluated independently by 2 reviewers with an adjudicator for discrepancies in coding. The majority of grants in 2008 and 2011 were classified as T0 and T1 research, with only 4 grants classified as T2 and beyond. The majority of genetics grants funded in 2008 and 2011 were in T0 and T1 categories, although the proportion of grants in T0 actually increased in that period. NHLBI-initiated programs to address this inability to move beyond T1 translation research have yet to have an impact on grant-funded translational genetic research. Future genetics studies should be designed with an eye toward translation to help overcome this barrier. Translational medicine is a major focus of the National Institutes of Health (NIH) research agenda; NIH Director Francis Collins identified it as 1 of 5 promising areas ripe for major advances that could reap substantial downstream benefits.1 Since the publication of the NIH research agenda in January 2010, an advisory panel for the NIH proposed …