Leap of Faith or Smart Investment? Early Integration of Whole Genome Sequencing in Healthcare Systems

Discovery science in genomic medicine has generally enjoyed longstanding large collaborations for data sharing and joint analyses. Synergies among collaborators has accelerated major advances in our understanding of the genetic basis of health and diseases. More recently, some of the same scientists have come together to aggregate data for more applied clinical research with NIH funded pilot programs, such as eMERGE and IGNITE, leading the way. Efforts like these have led to new insights on the health effects of genetic variation.

But what about translating genome discoveries into health care practice? Evidence of clinical utility is necessary to convince public and private insurers to reimburse for genomic technologies. Without reimbursement, health care systems are unlikely to adopt new ways of providing care that are relatively costly. Clinical utility data also spurs development of evidence-based guidelines from medical-specialty societies and recommendations from organizations, such as the USPSTF, that drives appropriate adoption of genomic technologies. Developing clinical utility evidence is time consuming and expensive, and resources for conducting such research are scarce (see recent papers here and here).

The advent of low cost and high accuracy exome and whole genome sequencing has led many global healthcare organizations to adopt genome sequencing early in managing patient populations. These early adopters have taken a leap of faith that having genome sequence data readily at hand to guide health management will eventually yield improved health outcomes. The existence of early adopter organizations generating sequence data on large numbers of individuals with paired longitudinal electronic health record data provides opportunities for real-world clinical research directed at health outcome endpoints.

In November, 2017, the NASEM Roundtable on Genomics and Precision Health held the workshop, “Implementing and Evaluating Genomic Screening Programs in Health Care Systems,” which explored the emerging landscape of worldwide organizations that are (or soon will be) applying genome sequencing as a screening tool in populations. Participants included individuals from organizations like Kaiser Permanente, Geisinger Health System, the University of Alabama Birmingham and the University of Vermont. Also represented were individuals from existing research collaborations that have been engaged in data sharing for genomic discovery science. Participants considered a variety of topics including economic and financial issues, data sharing across organizations to develop data on clinical utility, and inclusion of diverse and often under-represented population groups. Proceedings of  the workshop are  summarized in a published JAMA.

From the workshop, it was apparent that early adoption of genomic technologies is already happening. There was broad agreement that pooling of efforts across organizations could with relatively little additional investment, yield big dividends in terms of developing clinical utility evidence. Barriers to pooling efforts include lack of data standards, lack of common outcome metrics, lack of infrastructure that would allow aggregation and analysis of clinical and genomic data, and lack of programs that incentivize data sharing. Additionally, attendees broadly expressed the perspective that health care disparities for genomic applications in underserved populations are an existing and expanding issue no matter the level of evidence of clinical utility. The group discussed alleviating disparities by intentionally including leaders from underserved populations in the planning, development, and ongoing implementation of genomic screening programs.

The workshop concluded with substantial momentum directed at finding concrete ways to enhance collaboration across organizations that have, or soon will have, genome sequencing programs for large population groups. Time will tell if such collaborations can be developed and maintained, but failure to do so would seem a missed opportunity to generate clinical utility data for using genome sequencing as a screening tool to prevent disease and improve population health.

We appreciate our readers’ input and comments on the workshop summary and approaches to collaborations among health care systems, public health and other stakeholders to fulfill the promise of genomics in improving health.

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