Select participants from the Cascade Screening Working Group performed a scoping review of the literature on the delivery of cascade screening for hereditary conditions. The work was published in May 2018 in Health Affairs (full citation below).
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.
March 19, 2018 - Washington, DC
The Genomics and Population Health action collaborative (GPHAC) met on March 19, 2018 to discuss the progress of the three working groups and plan for future activities. The meeting began with opening remarks from Muin Khoury from the Office of Public Health Genomics at CDC, who gave a brief background on the goals of the action collaborative and described opportunities for the GPHAC to foster new collaborations between the public health system and health care delivery organizations in the area of genomics. GPHAC working group leaders gave updates on completed or in-progress activities. One recent project from the Implementation working group involved the development of performance objectives and outcome metrics for genomics-based public health programs. The Population Screening group discussed progress toward the development of a guide for considering genomics-based screening programs. The Cascade Screening working group conducted a literature review on the barriers and facilitators of cascade screening, and participants are now working in several areas including ethical, legal, and social implications of cascade screening and on building implementation tools. Over the past year, the Implementation working group carried out interviews with state public health officials to identify current and past genomics activities, identify barriers and facilitators to this process, and assess readiness to implement evidence-based genomics applications. At the meeting, Debra Duquette, of Northwestern University, offered her perspectives on how state public health departments at various levels of readiness can build effective genomics programs. Officials from five state public health departments reacted to the presentation in a panel discussion and offered ideas for developing genomics programs in their states. The meeting also featured speakers from health care delivery systems that are investing in genomic medicine programs. Speakers shared their experiences, and several new connections were formed between those in the health care delivery sector and public health officials. In the upcoming year, the GPHAC will continue to bring together stakeholders and work to address existing evidence gaps, demonstrate the value of genomics programs, and address health disparities and equity in the implementation of precision public health programs.
Meeting Slides (Note: We recommend using Firefox/Chrome as your browser. Alternatively, you can download the slides before viewing them.)
• Introduction and Overview (M. Khoury)
• Population Screening Working Group (J. Evans and M. Murray)
• Cascade Screening Working Group (H. Hampel and K. Wilemon)
• Implementation Working Group (D. Chambers)
• Building Customized Implementation Approaches for Genomics Programs at the State Level (D. Duquette)
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