JAMA features viewpoint on population genomics co-authored by David Grossman, MD

David C. Grossman, MD, of the Washington Permanente Medical Group, and Eric B. Larson, MD, of Kaiser Permanente Washington Health Research Institute, published a peer-reviewed viewpoint in today’s JAMA on the potentially powerful implications of population genomics on the future of health care.

In the viewpoint, “Integrating Personalized Medicine With Population Health Management: The Path Forward,” Drs. Grossman and Larson, and co-author Harold C. Sox, MD, of the Patient-Centered Outcomes Research Institute, wrote that genome-wide DNA sequencing will likely become a part of regular medical practice and “represents an era of ‘personalized medicine.’”

Genome-wide sequencing, they wrote, “can be a pathway not only to personalized medicine, but also to population health, which can be defined from a health care delivery perspective as the outcome when a health organization assumes responsibility for the health status of a defined population.”

Examples of organizations that currently assume such responsibility include the Veterans Health Administration, Kaiser Permanente, and other accountable care organizations.

Breast cancer shares a linkage to genomic markers, the authors point out, raising the potential for other population-based screenings that could be followed by evidence-based early interventions. The U.S. Preventive Services Task Force already recommends that primary care physicians use a brief genetic risk-assessment tool with women who have a personal or family history of breast, ovarian, tubal, or peritoneal cancer, or who have ancestry associated with BRCA1 and BRCA2 gene mutations.

In outlining a societal approach to implementing of genomics screening that would maximize benefits relative to harms, Drs. Grossman, Larson, and Sox highlighted 4 elements: 1) research to understand the consequences of being screened for variants in a gene; 2) measurement, ideally including clinical trials, of the health outcomes and costs associated with interventions to reduce disease susceptibility; 3) a broadly based program to determine national priorities for the most important, promising clinical trials; and 4) rules of evidence for the research program established in advance.

The JAMA co-authors also emphasized that patients must give informed consent to genomic testing for disease susceptibility. “Fully informing patients of the downstream effects of screening, including potential benefits and harms, will require information from long-term studies extending over decades,” they wrote.

Note: Read the full viewpoint on the JAMA website.