Genomics and Population Health - A Precision Public Health Activity

Issue
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. While many of the goals of precision medicine focus on long-term discovery efforts, current evidence for certain genomic applications suggests that many lives could be saved now if these were implemented in the recommended populations. A coordinated, collaborative effort to engage key stakeholders is needed to identify current evidence and determine best practices for widespread integration in population health programs.

Activity
The Genomics and Population Health Action Collaborative, as an ad hoc activity under the auspices of the Roundtable on Genomics and Precision Health, convenes key stakeholders with an interest in and commitment to integrating genomics in existing population health programs for health improvement. Action Collaborative participants are in the process of developing an online guide that will provide information for those interested in building genomics-based population health programs. As components of the guide are completed, they will become available on this website.

Working Groups

Evidence (November 2015-February 2017)

Ned Calonge, M.D.
President and CEO
The Colorado Trust
Leader, Evidence Working Group

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 BRCA1/2 that cause hereditary breast and ovarian cancer and mutations that cause Lynch syndrome. This working group also examined current gaps in the evidence that exist for supporting a Tier 1 genomic application at the population level. Group participants explored ways to estimate the public health impact of a genomics program, and discussed how these approaches can potentially drive the decision to implement.

Implementation (November 2015-Present)


Deb Duquette, M.S., C.G.C. Genomics Coordinator Michigan Department of Health and Human Services Co-Leader, Implementation Working Group	David Chambers, DPhil Deputy Director for Implementation Science Division of Cancer Control and Population Sciences National Cancer Institute Co-Leader, Implementation Working Group

The Implementation Working Group aims to research and understand the factors that underlie a state health department’s decision to implement a genomics program. To gather information, participants are engaging with officials at the state public health level in a series of qualitative interviews. A second project of the Implementation Working Group involves identifying a common set of valid and reliable outcome metrics that can be used to measure the effectiveness and success of public health genomics programs. Lastly, a subset of the Implementation Working Group is exploring health disparities related to genetic and genomics-based tests, and outlining possible approaches for public health genomics programs to alleviate those disparities.

Cascade Screening (March 2017-Present)


Heather Hampel, M.S., L.G.C. Licensed Genetic Counselor, Clinical Cancer Genetics Program Professor, Division of Human Genetics Department of Internal Medicine The Ohio State University Co-Leader, Cascade Screening Working Group	Katherine Wilemon Founder and CEO The FH Foundation Co-Leader, Population Screening Working Group

The Cascade Screening Working Group is focused on developing tools and best practices for the identification and genetic testing of at-risk relatives of those individuals diagnosed with familial hypercholesterolemia (FH), Lynch syndrome (LS), and/or hereditary breast and ovarian cancer (HBOC). The idea behind cascade screening is that it can provide early diagnosis and disease management and ultimately reduce morbidity and mortality from high-risk genetic conditions. The Working Group will explore the state of the science on cascade screening and examine specific examples of cascade testing that have taken place outside of the US. This information will be utilized in the design of a roadmap for pilot cascade screening programs that will focus on cardiovascular disease (in the case of FH) or cancer (for LS and HBOC).

Population Screening (March 2017-Present)


James Evans, M.D., Ph.D. Bryson Distinguished Professor of Genetics & Medicine Director, Adult and Cancer Clinical Genetics Services UNC School of Medicine Co-Leader, Population Screening Working Group	Michael Murray, M.D. Director of Clinical Genomics Geisinger Health System Co-Leader, Population Screening Working Group

The Population Screening Working Group is designing a framework that will provide the rationale and corresponding evidence for the implementation of large-scale genomic sequencing programs in healthy adult populations. Potential issues that will be addressed by this working group include: selection of genes, analytic challenges, return of positive and negative results to participants, workforce and education needs, and economic considerations. In addition, the group will explore current evidence gaps in order to identify important unanswered research questions in this space.

Participants
The Action Collaborative is a multi-stakeholder effort that engages individuals with expertise in public/population health, health disparities, health literacy, implementation science, medical genetics, and patient advocacy. A full list of participants is included on the right.

Past Meetings
February 24, 2017 - Washington, DC
The Genomics and Population Health action collaborative leaders met in Washington, DC, on February 24, 2017, to discuss the group’s progress in the first year and to take part in strategic planning for the second year of activities. The meeting began with opening remarks from Muin Khoury and David Chambers which focused on the concept of precision public health and specifically how implementation science can improve and accelerate the uptake of evidence-based genetics and genomics-based tests. Next, Deb Duquette and Ned Calonge provided updates on the progress made by the Evidence and Implementation Working Groups in the first year. The afternoon portion of the meeting was dedicated to strategic planning, and the leaders of the three working groups for second year presented their vision and ideas. The Implementation Working Group will continue its work with state public health officials into the second year, making concerted efforts to include perspectives from health care delivery systems. This group will also continue to examine health disparities that are associated with Tier 1 conditions (HBOC, LS, and FH) and offer potential solutions for alleviating those inequities. A new working group, led by Heather Hampel and Katherine Wilemon, will focus on opportunities and challenges with cascade screening for LS, FH, and HBOC. The overarching goal of this group will be to design a roadmap with tools and best practices for implementing cascade testing in the US. Lastly, a new working group focused on population screening will be led by James Evans and Michael Murray. This group will design a framework that will provide the rationale and corresponding evidence for the implementation of large-scale genomic sequencing programs. Members will also explore challenges of population screening programs including return of results, economic considerations, and analysis of data.

Meeting Agenda

Meeting slides