Strategic vision for improving human health at The Forefront of Genomics

Abstract

Starting with the launch of the Human Genome Project three decades ago, and continuing after its completion in 2003, genomics has progressively come to have a central and catalytic role in basic and translational research. In addition, studies increasingly demonstrate how genomic information can be effectively used in clinical care. In the future, the anticipated advances in technology development, biological insights, and clinical applications (among others) will lead to more widespread integration of genomics into almost all areas of biomedical research, the adoption of genomics into mainstream medical and public-health practices, and an increasing relevance of genomics for everyday life. On behalf of the research community, the National Human Genome Research Institute recently completed a multi-year process of strategic engagement to identify future research priorities and opportunities in human genomics, with an emphasis on health applications. Here we describe the highest-priority elements envisioned for the cutting-edge of human genomics going forward-that is, at 'The Forefront of Genomics'.

Fig. 1 |. Four-area strategic framework at The Forefront of Genomics.

Together, the indicated progressive and interrelated areas serve to organize the major elements in the strategic vision described here.

Fig. 2 |. Funding trends of NIH and NHGRI over the past 30 years.

The total funding levels for NIH (top panel) and NHGRI (middle panel) are indicated for 1990, 2010, and 2020, respectively. Also shown (bottom panel) is the relative proportion of funds supporting human genomics research provided by NHGRI versus all of NIH for the three corresponding time intervals (as derived from queries of the internal NIH Research, Condition and Disease Categorization database for funds assigned to the “human genome” category). During the 30-year period when the NHGRI budget increased roughly ten-fold (middle panel), the proportion of total NIH funding for human genomics research actually increased more dramatically, from <5% during the Human Genome Project to ~90% at the beginning of the current decade (bottom panel). In essence, these trends reflect a leveraging of NHGRI’s funds that increased NIH’s overall human genomics research funding by greater than ten-fold.

Fig. 3 |. Virtuous cycles in human genomics research and clinical care.

As human genomics has matured as a discipline, productive and connected virtuous cycles of activity have emerged, each self-improving with successive rounds of new advances. The cycle on the left reflects basic genomics research, in which technology innovations spur the collection and analysis of genomics research data, often yielding new knowledge and additional hypotheses for testing. The cycle on the right reflects a genomic learning healthcare system, in which the implementation of new genomic medicine practice innovations allows for the collection and analysis of outcomes data, often yielding new genomic knowledge and additional genomics-based strategies for improving the quality of clinical care. Note that the new knowledge emerging from either the left or right cycle has the potential to feed into the other, creating opportunities for “bench to bedside” and “bedside back to bench” progressions – both of which are expected to grow in the coming decade.