Genomics and Population Health Action: The Collaboration Continues!

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

an image of the GPHA Roundtable members from the 2017 meeting In March 2018, I attended the third annual meeting of leaders of the Genomics and Population Health Action Collaborative (GPHAC). GPHAC was formed late in 2015 under the auspices of the National Academy of Medicine’s Roundtable on Genomics and Precision Health to foster collaboration of more than 50 diverse stakeholders, including state public health programs, healthcare systems, patient organizations, industry, academia and others, to translate advances in genomics into population health benefits. GPHAC’s main goal to develop a toolkit for state public health programs and health care systems that would build on efforts by OPHG and other groups. In our meeting, we reviewed the impressive accomplishments and ongoing work of this dedicated group. More details on the meeting include slide presentations are available on the GPHAC website.

Key Accomplishments and Next Steps

  • Guidance to State Public Health Programs
    In April 2017, the Evidence working group published its work product, Building the Evidence Base for Genomics in Public Health. The document provides guidance to programs interested in integrating genomics to improve population health. It suggests taking a horizon scanning approach to implementation, based on evidence of utility and validity. It uses the CDC three-tier evidence classification approach, with Tier 1 as the highest level of evidence that if implemented, can lead to health benefits to individuals, families and populations. The GPHAC document discussed in depth three autosomal dominant genetic conditions affecting more than 2 million people in the United States, with existing evidence-based guidelines that can reduce death and disease from cancer and heart disease. The conditions include hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia. Most affected people do not know they have these conditions, requiring a public health approach for early case identification, cascade screening and provision of preventive and treatment services.
  • An Ethical, Legal, and Social Framework for Addressing Disparities in Public Health Genomics
    In August 2017, members of GPHAC presented a framework to mitigate disparities in implementation of Tier 1 cancer genetic the Ethical Legal and Social Issues Congress. The framework blends insights from public health practice and implementation science. The paper is currently under peer review.
  • Development of Outcome Metrics for State Public Health Genomics Programs
    In January 2018, Deb Lochner-Doyle and colleagues from the GPHAC Implementation Working Group published a paper with examples of performance objectives and outcome metrics that can used in public health programs for successful implementation of genomic activities. As in other areas of public health, progress in the field of genomics depends on measuring population impact. Yet few metrics exist in this field (e.g. Healthy People 2020). Recognizing the need to include implementation outcomes, the authors used a framework from the field of implementation science.
  • Needs Assessment for Genomics in Public Health Departments
    The Implementation Working Group has also conducted interviews with state public health departments to identify current and past state genomics activities, assess readiness to implement evidence-based genomics applications; and identify facilitators and barriers to this process, using cancer as prototype. These include prior experiences, availability of CDC and other funding, legislation, staffing resources, influencers/champions, and available training/education, tools and resource. The results of this work will be reported in the literature by GPHAC participants.


The GPHAC Cascade Screening group discussed progress in its mission to identify gaps in research and barriers to implementation of cascade screening in the United States for three Tier 1 conditions, identify and enable public health/healthcare interfaces to accelerate cascade screening, and design a pilot project within a few states and health systems. The group conducted a systematic scoping review of the barriers and facilitators of cascade screening and have a paper accepted for publication in Health Affairs, as part of a special issue on precision medicine. The ultimate objective is to develop a systematic policy reference to inform future public health programs and the Cascade Screening Implementation Framework. The tool will attempt to answer questions to consider in your state regarding laws on disease reporting, such as can you collect data, exemptions, and database laws? Ongoing work includes overview of existing laws, including examples (e.g., restrictive law, no state genetic law, states with limitations on government entities); and ethical, legal, and social implications (ELSI) through patient and family communication surveys.

The Population Screening Group discussed progress towards developing “A Guide for Considering Genomic-Based Screening Programs.” Using the tiered evidence classification mentioned above, they are zeroing in on a group of genes to consider for inclusion, evaluation, and implementation in health care systems. This will build on the ongoing momentum by health systems in integrating genomics into practice using principles of implementation science and learning health systems. The group will develop a short, summary style peer-reviewed paper, in addition to well-developed materials to assist implementation efforts. Such materials may include online sample consent; best practices for collecting appropriate personal and family history at time of screening; ways of reaching diverse populations; encouraging investigation of the penetrance of genetic variants in population health setting; and robust discussion of pros and cons of targeted versus genome scale sequencing for screening.

The meeting participants explored the role of health care systems in implementing genomic medicine (screening and cascade testing) to improve population health, in collaboration with public health programs. Panel discussions included representatives from health systems and public health programs from the same states to share experiences and identify gaps in collaboration.

GPHAC Themes

Several themes and gaps emerged from the GPHAC discussion. These include the need for outcomes and evidence; need for startup resources and funding; need to demonstrate “value” for genomics implementation including economic analyses; and need to address health disparities and equity in genomics implementation.

In addition, several themes emerged regarding the role and value of public health programs in implementation of genomics in health systems. These include standardization of practice guidelines; active cascade screening across health systems and multiple states, population level cost-effectiveness analysis; standardization of genomic test reporting formats; legislative standards; insurance coverage consistent with evidence-based guidelines; population wide surveillance to monitor access to and benefits of genomic testing.

Next Steps

Finally, GPHAC participants recognized the importance of ongoing initiatives and activities that can provide additional collaboration to achieve maximum population impact for genomics implementation. These include the Cancer Moonshot hereditary cancer funding initiative, NIH wide implementation science funding and training resources, the NHLBI T4 translation funding initiative, the AllofUs precision medicine research initiative, the NHGRI implementation science initiatives (e.g., IGNITE 2.0) and the Genomics Literacy, Education and Empowerment initiative (GLEE) and others.

The field of public health genomics is still young but rapidly evolving. Ultimately, public health/health care partnerships will be essential in order to reap the benefits of genomics and precision medicine to benefit health for all. We look forward to more progress by GPHAC.

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Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionTags
Page last reviewed: April 9, 2024
Page last updated: April 9, 2024