Genome-wide DNA sequencing, which is the process of determining all of a person’s genetic information, is getting cheaper and more common. But using genomic data to promote both individual and community health can happen only if health systems plan ahead.
This is according to experts in evidence-based medicine from Kaiser Permanente and the Patient-Centered Outcomes Research Institute (PCORI) in a recent invited commentary in the Journal of the American Medical Association (JAMA).
“Data from genome sequencing could make major contributions to increasing population health,” says David Grossman, MD, MPH, Kaiser Permanente Washington Health Research Institute (KPWHRI) senior investigator. “But only if the health research community sets priorities about what evidence we need and how we will make clinical policy based on that evidence.”
We already use genomic screening to keep populations healthy, writes Dr. Grossman in “Integrating Personalized Medicine with Population Health Management—The Path Forward,” with coauthors Eric B. Larson, MD, MPH, KPWHRI senior investigator, and Harold C. Sox, MD from PCORI.
For example, genetic tests are the basis for personalized medicine approaches to prevent, diagnose early, or treat breast cancer in high-risk populations. These tests, driven by evidenced-based guidelines, become a population management tool when they are used strategically to increase the health of groups such as Veterans Health Administration patients or Kaiser Permanente members.
Human disease genetics is complicated, though. So far, we have only a few examples of strong correlations between presence of a single type of gene and high risk of disease or likely response to an available therapy. We often don’t know exactly if or how a gene causes disease. Additional gains from using genome sequencing for population-level prevention and treatment programs require careful planning to avoid wasting resources and exposing patients to potential harms, Drs. Grossman, Larson, and Sox write.
Factors to consider include whether a genetic test and subsequent care recommendations benefit the general population, or only a targeted population, for example based on family history or results of other clinical tests. This knowledge will affect who is offered genome sequencing services and under what circumstances.
To gain this kind of knowledge, the authors write, health researchers and health systems must decide on and prioritize the evidence needed for optimal integration of genomic sequencing information into population health strategies. Along with prioritizing research, bringing the benefits of individual genomics to public health requires data infrastructure for properly capturing and storing the results, and strategies for impartially using the data to guide care of an informed public. A model, the authors note, might be an independent expert panel similar to the U.S. Preventive Services Task Force that relies on the strongest evidence to develop and communicate national health guidelines.
Population genomics has great potential for the future of health care, Drs. Grossman, Larson, and Sox conclude. “This is a long-term vision that requires commitment and patience to move evidence from individual genome sequencing into population health practice,” Dr. Larson says.
Dr. Grossman also serves as Kaiser Permanente Washington senior medical director for community health and external relations and Kaiser Permanente national senior medical director for community health. Dr. Larson is the former vice president for research at Kaiser Permanente Washington and former executive director of KPWHRI.
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