Precision Medicine, Implementation Science and Public Health: How Do We Scale Up From 1 Million to 300 Million?

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

figure with magnifying glass looking at the US mapPlanning for the 2015 Presidential Precision Medicine Initiative is in full swing. After the initial announcement in January 2015, several workshops were held to help in design and execution of the longitudinal cohort study of 1 million persons. The workshops covered important topics including a Building a Precision Medicine Research Cohort, Scientific OpportunitiesDigital Health Data, Participant Engagement and Health Equity, and Mobile and Personal Technologies.

If the vision of precision medicine is to have our genome sequence available for use in disease prevention and health care, we have a unique opportunity through this initiative not only to make new discoveries but to learn how to implement and scale up this endeavor from where we are now to a million person cohort, and ultimately 300 million people. Can we build an infrastructure that can support both scientific discoveries and scalable implementation at a national level? Can we design a million person cohort that allows us to learn from the interaction of individuals in the cohort with families, communities, health care systems, public health and policy contexts? There are two key components to ensure long term success of a precision medicine cohort: implementation science and public health-healthcare partnerships.

“Implementation science” is an evolving field that assesses and promotes integration of research findings and evidence-based interventions into practice.  It seeks to understand the behavior of health professionals, organizations, consumers and family members, and policymakers in the adoption and sustainability of evidence-based interventions. Implementation research does not assume that empirically-supported interventions can be transferred into any setting and population without attention to local context, but rather studies “how” interventions are transported to real-world settings and populations. As I pointed out elsewhere, there are near term opportunities in the 1 million person cohort for using results of sequencing for selected genes and variants to identify thousands of individuals and their relatives who can benefit from immediate evidence-based interventions (screening and treatment) that can prevent disease and premature death from selected hereditary cancers and heart disease, even without new discoveries. Most of these individuals do not know they are at increased risk.   Therefore, using implementation science in the precision medicine cohort will generate evidence to guide how to interpret, return and act on results of genome sequencing, how to enroll people in health care and disease prevention programs, how to develop and use health decision support tools (for example integrating with electronic health records (EHRs)), and how to cascade testing and interventions to relatives.

The second key component for a successful precision medicine cohort is developing public health collaborations. After all, a cohort of 1 million persons represents a microcosm of a “population”. Some countries like Iceland have less than a million people. Iceland is well known as a population genomics laboratory with genome sequencing linked to medical records and health outcomes.  Genome sequencing of a million persons in the United States, when scaled up represents a population “screening” program which integrates sequencing with other health related information. The leap from sequencing 1 million individuals to sequencing the entire population is currently far-fetched and will need additional evidence for utility. But there is much to be learned about operational, economic, and social aspects, not just about molecules and diseases. Involving the public health community at the outset can begin to address the building blocks for population-wide sequencing.

A number of public health activities can be contemplated now and may provide a template for future population-wide implementation. These activities fall broadly in 3 domains: education, surveillance, and policy/infrastructure.

Education of the general public and of healthcare providers is a crucial public health endeavor to engage not only the participants of the 1 million cohort but the general US population. How genetics affects health can be integrated into a communication campaign that starts with providing engaging information on the role of genetic variation in human health, the importance of gene-environment interactions, the importance of family health history, and the available tests and interventions that can improve health outcomes.

Surveillance and tracking are important public health functions and they apply to almost all diseases, disease risk factors, interventions and health behaviors. In the realm of genomics, several states have in the past surveyed their populations for awareness and use of genetic tests, especially related to direct to consumer testing. Ongoing needs assessment and monitoring of these trends is important to target the educational efforts and programs.

Policy and infrastructure building will be needed in assuring quality of tests and services, protecting privacy and confidentiality, and providing access to validated genetic information. Overall, we need to start thinking about the appropriate role of genomics, if any, in state population health improvement plans. On the short run, pilot projects can be undertaken to use public health programs such as cancer registries to collect and report results of genetic tests for validated genomic variants.

These are the early days of precision medicine. The time is now for an important dialogue to occur among public health, health care and the research community to “design for implementation” in order to ensure the ultimate success of precision medicine in improving population health.

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionTags

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    None of this of course tells us when recruiting for this one million person cohort study is actually going to begin. Since the above statement came out, the timetable has been revised (postponed) at least four times! The recruitment project was originally supposed to start in the summer of 2016 , then it was postponed to the end of the year, then to the beginning of 2017, then to the spring. Lately, Dr Francis Collins makes the vague comment that it is now expected to begin “later this year” – i.e. presumably no longer even in the spring. These postponements are done with no transparency – there is no explicit admission that the timetable keeps being revised and no attempt to explain why.

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Page last reviewed: April 8, 2024
Page last updated: April 8, 2024