About the Collaborative

Integrating genomics at the population health level has the potential to increase our understanding of disease, improve public health, reduce health disparities, and promote genomic literacy. Current evidence for certain genomic applications suggests that health could be improved if these were implemented in the recommended populations. The Genomics and Population Health Action Collaborative was formed in 2015 with the goal of identifying challenges and potential best practices for the widespread integration of evidence-based genomics applications in population health programs.

This collaborative was an ad hoc activity under the auspices of the Roundtable on Genomics and Precision Health at the National Academies of Sciences, Engineering, and Medicine (the National Academies). The products of the action collaborative do not necessarily represent the views of any one organization, the Roundtable, or the National Academies and have not been subjected to the review procedures of, nor are they a report or product of, the National Academies.

Note: The action collaborative concluded its work under the National Academies in 2019, however, select projects will remain active through the CDC Office of Public Health Genomics.

Participants

The action collaborative engaged key stakeholders representing multiple sectors including academia, state and federal government, patient advocacy, industry, and health care delivery systems. The group included participants with experience in public health, medical genetics, implementation science, epidemiology, health communication, research, ethics, and law.

Working Groups

The Genomics and Population Health Action Collaborative included the following four working groups.

Evidence: The goal of the Evidence Working Group was to understand the type and level of evidence required to implement genomic applications at the public health level. This work focused primarily on two case studies – mutations in BRCA1 and BRCA2 that cause hereditary breast and ovarian cancer and mutations that cause Lynch syndrome. The Evidence Working Group was led by Ned Calonge, the President and CEO of the Colorado Trust.

Group members prepared a white paper, Building the Evidence Base for Genomics in Public Health, which details the process of horizon scanning and how evidence assessment consortia evaluated genetic tests for BRCA1, BRCA2, and Lynch syndrome.

Implementation: The Implementation Working Group aimed to understand the barriers and facilitators to public health-based genomics programs that focus on hereditary breast and ovarian cancer. The group leaders were Debra Duquette, an associate professor of medicine at Northwestern University, and David Chambers, the Deputy Director for Implementation Science in the Division of Cancer Control and Population Sciences at the National Cancer Institute.

Select participants in the Implementation Working Group developed performance objectives and outcome measures that can be used to assess the efficacy of cancer genomics programs at the state public health level. The publication describing this work is below.

Doyle DL, Clyne M, Rodriguez JL, Cragun DL, Senier L, Hurst G, Chan K, Chambers DA. 2018. Proposed Outcomes Measures for State Public Health Genomic Programs. Genet Med 20(9):995-1003.

Another small group of participants from the Implementation Working Group developed a conceptual framework that blends implementation science and sociological research on health inequities to help guide the distribution of genomic screening for hereditary cancer more equitably across populations.

Senier L, McBride CM, Ramsey AT, Bonham VL, Chambers DA. 2019. Blending Insights From Implementation Science and the Social Sciences to Mitigate Inequities in Screening for Hereditary Cancer Syndromes. Int J Environ Res Public Health 16(20):3899.

Participants within this group also conducted a series of interviews with state public health department officials and are preparing a paper describing their findings and potential ways to link state activities to the performance objectives.

Population Screening: This Working Group focused on methods to identify otherwise healthy individuals who carry a pathogenic variant that puts them at substantially elevated risk for cancer and heart disease. The group was led by Jim Evans, Bryson Distinguished Professor of Genetics and Medicine, at the University of North Carolina Chapel Hill, and Michael Murray, Professor of Genetics and Director for Clinical Operations in the Center for Genomic Health at Yale University.

Participants in this group developed the following discussion paper that outlines a number of considerations for implementing genomics-based screening programs for healthy adults.

Murray, MF, JP Evans, M Angrist, K Chan, W Uhlmann, DL Doyle, SM Fullerton, T Ganiats, J Hagenkord, S Imhof, SH Rim, L Ortmann, N Aziz, WD Dotson, E Matloff, K Young, K Kaphingst, A Bradbury, J Scott, C Wang, A Zauber, M Levine, B Korf, D Leonard, C Wicklund, G Isham, and MJ Khoury. 2018. A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults. NAM Perspectives. Discussion Paper, National Academy of Medicine, Washington, DC.

Cascade Screening: The Cascade Screening Working Group aimed to develop tools and best practices for the identification and genetic testing of at-risk relatives of those individuals diagnosed with familial hypercholesterolemia (FH), hereditary breast and ovarian cancer, and/or Lynch syndrome. This working group was led by Heather Hampel, Professor in the Division of Human Genetics at the Ohio State University, and Katherine Wilemon, Founder and CEO of the FH Foundation.

Select participants from the Cascade Screening working group performed the following scoping review of the literature on the delivery of cascade screening for hereditary conditions.

Roberts MC, Dotson WD, DeVore CS, Bednar EM, Bowen DJ, Ganiats TG, Green RF, Hurst GM, Philp AR, Ricker CN, Sturm AC, Trepanier AM, Williams JL, Zierhut HA, Wilemon KA, Hampel H. 2018. Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature. Health Aff (Millwood) 37(5):801-808.

Select participants from the Cascade Screening working group examined the Health Insurance Portability and Accountability Act (HIPAA) in the context of sharing of genomic information between family members. The publication resulting from that analysis is below.

Henrikson NM, Wagner JK, Hampel H, DeVore C, Shridhar N, Williams JL, Donohue KE, Kullo I, Prince AER. 2020. What guidance does HIPAA offer to providers considering familial risk notification and cascade genetic testing? Journal of Law and the Biosciences