White Paper #2: Applying Genomics to Clinical Problems - Therapeutics

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

Applying Genomics to Clinical Problems - Therapeutics

A white paper for the National Human Genome Research Institute

Submitted by: Harry Dietz, M.D., and Christopher Austin, M.D.
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There is great potential, even expectation, that advances in genetics and genomics will fuel a revolution in disease prevention and treatment. Both the intramural scientific and extramural funding arms of the National Human Genome Research Institute (NHGRI) have contributed substantially to this goal through initiatives that have developed critical foundation tools (e.g. the human genome sequence and haplotype map) and provided access to enabling technologies (e.g. the NIH Chemical Genomics Center; NCGC). It is anticipated that the path forward will be informed by consideration of the architecture for prior success in transformational application of basic science inquiry to clinical practice.

Common themes include the calculated or fortuitous intersection between lines of basic inquiry focused on both mechanisms of disease and strategies to modify physiologic and/or inherently pathologic events; the need for prioritization of initiatives based upon public health burden or evident opportunity; the importance of the development of infrastructure and the forging of alliances between academia, industry and patients; and the need for physician and public education for the responsible testing and introduction of new therapies and the productive management of expectations. In this light, it is anticipated that the mission of NHGRI to contribute to the development of novel therapeutic strategies will be facilitated by consideration of the following questions:

1. How can we improve efforts to define the mechanistic underpinnings of disease predisposition, initiation, and/or progression?
2. Can we better define therapeutic agents in order to expand their application?
3. What are the critical gaps in infrastructure?
4. What are the synergistic relationships needed to catalyze progress and how are they best developed?
5. What are the opportunities and obstacles regarding human clinical trials?
6. What educational initiatives will be needed to maximize progress in the development and responsible application of therapeutic advances?

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Last Reviewed: March 15, 2012