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Introduction¹

Genomic testing is increasingly being applied in clinical practice to assess the risk or presence of disease and to guide prevention approaches and treatment decisions. The potential applications and benefits of genomic sequencing across the life span are many; however, obstacles to widespread adoption and integration of genomics into routine patient care persist. Realizing the potential of genomics across the clinical care spectrum will require understanding and addressing a range of challenges including

• the costs, availability, accessibility, and coverage of genomic testing;
• the genomic literacy of specialists, primary care providers, and the public;
• the need for clinical decision support tools;
• availability of genetic counselors as well as medical and laboratory geneticists;
• clinical usefulness and actionability of findings;
• the quality, diversity, and broad applicability of reference data sets;
• computing infrastructure capabilities needed to analyze, store, share, and reanalyze vast amounts of genome sequencing data from within and across health care systems; and
• lack of professional guidelines.

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¹ The planning committee’s role was limited to planning the workshop, and the Proceedings of a Workshop has been prepared by the workshop rapporteurs and listed staff as a factual summary of what occurred at the workshop. Statements, recommendations, and opinions expressed are those of individual presenters and participants, and are not necessarily endorsed or verified by the National Academies of Sciences, Engineering, and Medicine, and they should not be construed as reflecting any group consensus.

In 2020, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine adopted a new strategic plan with the vision of realizing the full potential of health for all through genomics and precision health.² This vision moves beyond illness to focus on optimizing health—specifically, how best to integrate genomics into health care practice for the benefit of patients, said Mira Irons, president and CEO of the College of Physicians of Philadelphia.

On October 12, 2022, the roundtable hosted a hybrid public workshop (in Washington, D.C., and via webcast) titled Realizing the Potential of Genomics across the Continuum of Precision Health Care. Greg Feero, professor in the Department of Community and Family Medicine at Geisel School of Medicine and faculty at Maine Dartmouth Family Medicine Residency Program, referred participants to several prior roundtable workshops on related topics including direct-to-consumer genetic testing (IOM and NRC, 2011), the economics of genomic medicine (IOM, 2013), and the adoption of population-scale genomic technology in health systems (NASEM, 2018). The fields of genetics and genomics have advanced, and much has changed in the years since those workshops, he noted. This workshop was intended to spark discussion about how to drive the equitable adoption and implementation of genomics in precision health care,³ said Michelle Penny, executive vice president of research and development at Embark, Inc. (see Box 1-1 for the workshop planning committee’s statement of task).

ORGANIZATION OF THE PROCEEDINGS

This Proceedings of a Workshop summarizes the presentations and discussions that took place during the public workshop held on October 12, 2022.⁴ The workshop opened with a keynote presentation on progress made toward the vision of being able to provide a “genome for all who want one” in four key areas: cost, accuracy, speed, and implementation and integration (Chapter 2). In the first session, speakers shared their personal experiences with genetic testing and their perspectives on what patients need as genomics moves into clinical care (Chapter 3). The next session’s speakers discussed the concerns of diverse communities and what the speakers noted could

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² The full strategic plan for the Roundtable on Genomics and Precision Health can be found here: https://www.nationalacademies.org/our-work/roundtable-on-genomics-and-precision-health (accessed January 6, 2023).

³ Genomic data encompass information derived from an individual’s DNA, for example, whole genome sequencing data or data from selective panels for pharmacogenomics. The emphasis on clinical sequencing in this workshop proceedings reflects the topics discussed during this workshop.

⁴ See the workshop’s agenda in Appendix A.

help achieve equitable precision care at the health system level (Chapter 4). Speakers then discussed a range of logistical challenges and system-level barriers that need to be addressed for full implementation and integration of genomics in precision health care (Chapters 5 and 6, respectively). The final session (Chapter 7) considered what genomics in health care will look like in the coming decades as well as potential steps to get there and included closing remarks from Christa Martin, chief scientific officer, Geisinger, and professor and director, Autism & Developmental Medical Institute.

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