Genomics and Medicine

Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use. Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed diseases, and infectious disease.

The nation’s investment in the Human Genome Project (HGP) was grounded in the expectation that knowledge generated as a result of that extraordinary research effort would be used to advance our understanding of biology and disease and to improve health. In the years since the HGP’s completion there has been much excitement about the potential for so-called ‘personalized medicine’ to reach the clinic. More recently, a report from the National Academy of Sciences has called for the adoption of ‘precision medicine,’ where genomics, epigenomics, environmental exposure, and other data would be used to more accurately guide individual diagnosis. Genomic medicine, as defined above, can be considered a subset of precision medicine.

The translation of new discoveries to use in patient care takes many years. Based on discoveries over the past five to ten years, genomic medicine is beginning to fuel new approaches in certain medical specialties. Oncology, in particular, is at the leading edge of incorporating genomics, as diagnostics for genetic and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies.

It has often been estimated that it takes, on average, 17 years to translate a novel research finding into routine clinical practice. This time lag is due to a combination of factors, including the need to validate research findings, the fact that clinical trials are complex and take time to conduct and then analyze, and because disseminating information and educating healthcare workers about a new advance is not an overnight process.

Once sufficient evidence has been generated to demonstrate a benefit to patients, or “clinical utility,” professional societies and clinical standards groups will use that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination will also factor in any potential ethical and legal issues, as well economic factors such as cost-benefit ratios.

The NHGRI Genomic Medicine Working Group (GMWG) has been gathering expert stakeholders in a series of genomic medicine meetings to discuss issues surrounding the adoption of genomic medicine. Particularly, the GMWG draws expertise from researchers at the cutting edge of this new medical toolset, with the aim of better informing future translational research at NHGRI. Additionally the working group provides guidance to the National Advisory Council on Human Genome Research (NACHGR) and NHGRI in other areas of genomic medicine implementation, such as outlining infrastructural needs for adoption of genomic medicine, identifying related efforts for future collaborations, and reviewing progress overall in genomic medicine implementation.