Precision Medicine Update: Important Progress on the Long Road from Discovery to Population Health Impact

August 26, 2019 by Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta Georgia and George A. Mensah, Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute

a long road with DNA and the text Discovery and Population Health Impact

a long road with DNA and the text Discovery and Population Health Impact

Impressive Pace and Potential

The All of Us Research Program is an ambitious United States initiative launched in 2015 to collect health-related information on one million or more volunteers from diverse communities. A recent paper in the New England Journal of Medicine described progress and lays out the vision for the initiative moving forward. As of July 2019, more than 230,000 people have been enrolled from over 340 recruitment sites. Participants are 18 years of age or older and include a majority of persons from population subgroups that have been historically underrepresented in health research. Participants are contributing information using multiple approaches, such as surveys, electronic health records, physical measurements, as well as biological specimens including blood, urine, and saliva samples. In addition, data from wearable devices are collected. In the near future, additional health surveys will be available, and participant data will be linked to other sources of information using digital health technologies and genomic studies. Participants in this effort will receive in-depth information about themselves that they can share with their health care providers to make better decisions about their care.

The program is also developing new approaches to generate, access, and make data broadly available to numerous approved researchers to accelerate knowledge gained for a variety of diseases and health conditions. With a plan to follow the health and outcomes of participants over decades, All of Us will permit researchers to analyze an unprecedented array of information on: individual differences in lifestyle, socioeconomic factors, environment, and biologic characteristics in order to advance precision medicine diagnosis, prevention, and treatment for numerous diseases. Efforts in the United States and other countries, including the U.K. Biobank , the Million Veteran Program , the China Kadoorie Biobank , and others have clearly documented the ability of large cohort studies to improve biomedical discovery for a variety of fields.

Active Engagement of Diverse Stakeholders

The focus that the All of Us Research Program has placed on myriad stakeholders is reassuring. From participants and their families in their local communities to health care providers and researchers in academic health centers and public health officials at the state and local levels, the program has invested in establishing “authentic engagement” and creating value for participants. Most importantly, ensuring racial, ethnic, ancestry, and geographic diversity will go a long way to address an important current limitation in genomics and precision medicine efforts. These strategic engagement efforts will be invaluable in facilitating robust recruitment, long-term participant retention, and overall program success.

Important Limitations and Challenges

In their paper , All of Us investigators reflected on some of the limitations and challenges ahead, including the lack of population representativeness of the cohort (in contrast to national surveys such as the National Health and Nutrition Examination Survey), the need to clearly define scientific goals, the difficulty of reaching subpopulations (such as rural areas), and some of the previously expressed general skepticism about the field of precision medicine. Other considerations include the need to include upstream social determinants of health, the importance of prevention (not just treatment), and the need to implement individual and population level interventions that can save lives today. More generally, there remains the critical challenge of validating and translating associations that emerge from studies into meaningful interventions at the individual and population level that can be evaluated for their utility and implementation.

Keep a Focus on the Actual Health Benefits to All of Us

All these and other challenges notwithstanding, progress in precision medicine and All of Us will continue to occur at an accelerating pace. As this project can potentially affect all of us, the public health community will continue to partner with All of Us to help reap the potential population health benefits of this effort in the decades ahead.