18 Mar NIH leaders on the future of precision medicine, healthcare transformation

By Dr. Francis S. Collins and Dr. Joshua C. Denny, National Institutes of Health (NIH)

COVID-19 puts renewed focus on the urgent need to put diverse health data to work to support new discoveries and bring more precise prevention and treatment strategies to communities. A new commentary in Cell, co-authored by Director of the National Institutes of Health Francis S. Collins, M.D., Ph.D., and Joshua C. Denny, M.D., M.S., chief executive officer of the All of Us Research Program, highlights seven opportunities to accelerate tailored medicine efforts and create a more equitable health landscape in the future.

The commentary covers key areas including huge cohorts, artificial intelligence, routine inclusion of genomics as part of clinical testing, deeper investigation of the role of phenomics and environment in health and disease, and returning value across diverse populations.

The authors highlight the role of large cohorts, like the All of Us Research Program, and the immense potential of such resources that aim to bring together diverse streams of information spanning genomics, social determinants of health, environmental exposures, electronic health record data, and wearable device data. They note that these resources offer tremendous opportunities for discovery across every area of medicine, but that an “open science” approach is needed for researchers to combine data across cohorts to maximize their impact on a global scale.

Another necessary growth area the authors discuss is improving diversity and inclusion in science. As a case in point: a Nature Genetics paper last year reported that people of African or Hispanic/Latin American genetic ancestry make up less than 3% of participants in published, genome-wide association studies. Collins and Denny contend that such underrepresentation has the potential to worsen current health disparities, while also weakening biological discovery that could benefit all populations. All of Us is working to change this, with more than 80% of its core participant cohort from populations that are historically underrepresented in biomedical research, including more than 50% from racial and ethnic minorities.

The COVID-19 pandemic has only heightened the need for transformative change in health research to meet the needs of communities nationwide, especially communities of color bearing the brunt of the virus’s impact. With a bold plan in place — including international collaboration, engagement of diverse populations of participants and researchers, and broad access to data — the authors believe more precise medicine is possible for all. Read more …