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Director's Corner

Director’s Corner

Sept. 23, 2015: Powering Precision Medicine

Christopher AustinThis past January, President Obama announced his intention to launch a Precision Medicine Initiative (PMI) that would enable clinicians to tailor disease prevention and treatment recommendations to each individual based on their particular genetics, environment and lifestyle. Last week, a working group of the NIH Advisory Committee to the Director released a report (PDF - 2MB) that includes a PMI vision for a cohort of more than 1 million Americans participating as active partners in the research process. Although work has just begun to make PMI a reality, a few thoughts from an NCATS perspective immediately come to mind.

PMI has the potential to be a game-changer for translational science by allowing decisions on therapeutic targets, design of clinical trials for new interventions like drugs and medical procedures, and the use of these interventions in wider populations to be more scientifically based. Typical of translational initiatives, PMI will have both scientific and operational challenges requiring innovative solutions. Finally, PMI is designed as a partnership between researchers and the participants who will contribute their data; as I wrote last fall, this kind of patient and community engagement is central to NCATS’ efforts to make translation more efficient and effective.

Beyond the confluence of PMI and NCATS perspectives, the science of precision medicine makes NCATS’ efforts to identify commonalities among diseases and within the translational research process even more timely. A pair of seeming contradictions illustrate this point.

First, a focus on commonalities leads to specificity and vice versa. Increasingly, researchers are recognizing that distinct diseases are really different manifestations of the same underlying cause. For example, the recently initiated NCI-Molecular Analysis for Therapy Choice (NCI-MATCH) Trial will treat patients with drugs specific to their tumors’ genetic mutations, regardless of the organ or system in which the cancer appears. Conversely, scientists are reclassifying many common diseases into smaller and more specific groups, each with a different underlying cause and potential treatment. Grouping people by narrowly defined factors means scientists can tailor interventions to the individuals who can benefit most, but it also means that many common diseases must now be treated like rare diseases. NCATS’ focus on rare diseases research has advanced new methods both to discover commonalities among disorders and to diagnose and test interventions in rarer disorders. These paradigms are tailor-made for the precision medicine era.

Second, although precision medicine studies will include fewer patients, this research actually requires a larger population. Because individuals with specific genetic or other characteristics required for a precision medicine study generally will be widely dispersed, researchers must identify and engage more people with a particular condition to find the few who have the “precise” characteristics. NCATS’ two national clinical networks — the Rare Diseases Clinical Research Network and the Clinical and Translational Science Awards (CTSA) Program — are ideally suited for precision medicine given their scale; access to diverse populations; and ongoing efforts to make participant recruitment, human subjects study review and other translational processes more effective and efficient. For example, the CTSA Program Recruitment and Trial Innovation Centers are designed to transform multisite clinical research by reducing delays in trial start-up and developing innovative participant recruitment strategies.

NCATS looks forward to helping lead the precision medicine charge and thus deliver more treatments to more patients more quickly. Precisely.

Christopher P. Austin, M.D.
National Center for Advancing Translational Sciences