Genomics and Population Health - A Precision Public Health Activity
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.
The Genomics and Population Health Action Collaborative, is 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.
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.
Evidence (November 2015-February 2017)
Members of the Evidence Working Group prepared the following white paper, which details the process of horizon scanning and how evidence assessment consortia evaluated genetic tests for BRCA1/2 and Lynch syndrome. The paper includes perspectives on using evidence assessment as a tool to support the integration of these applications within public health.
A group of participants in the Implementation Working Group developed performance objectives and outcome measures for state public health genomics programs. The work was published in January 2018 in Genetics in Medicine (full citation below).
Cascade Screening (March 2017-Present)
Population Screening (March 2017-Present)
- Doyle DL, Clyne M, Rodriguez JL, Cragun DL, Senier L, Hurst G, Chan K, Chambers DA. Proposed outcomes measures for state public health genomic programs. Genetics in Medicine. 2018 Jan 4. doi: 10. 1038/gim/2017.229. [epub ahead of print]
On January 30, 2017, the CDC's Office of Public Health Genomics held a seminar on the role of public health in population-based genetic screening. Speakers discussed opportunities for utilizing genetic information in health care beyond newborn screening programs. Resources from the seminar can be viewed using the links below. (Note: We recommend using Firefox/Chrome as your browser. Alternatively, you can download the slides before viewing them.)
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.
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 slides (Note: We recommend using Firefox/Chrome as your browser. Alternatively, you can download the slides before viewing them.)
GPHAC Introduction (M. Khoury)
Applying the Principles of Implementation Science to Precision Public Health (D. Chambers)
Evidence Working Group (N. Calonge)
Implementation Working Group (D. Duquette)
Population Screening Working Group (M. Murray and J. Evans)
Cascade Screening Working Group (K. Wilemon and H. Hampel)
November 18, 2015 - Washington, DC