Genomics and Population Health Action: Join the Collaboration

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

a crowd forming two puzzle pieces coming togehter with DNA on the groundIn February 2017, I attended a one-day meeting of leaders of the Genomics and Population Health Action Collaborative (GPHAC). This group of more than 40 organizations and individuals is dedicated to the integration of genomics into clinical and public health programs to save lives and prevent disease. (Details on GPHAC and its membership can be seen here. The group was formed more than a year ago under the auspices of the National Academy of Medicine’s Roundtable on Genomics and Precision Health. The overarching goals of the Action Collaborative are

  • Identify opportunities for genomics to improve population health now and in the near future.
  • Inform and communicate with population health policy makers and program officials.
  • Integrate evidence-based applications into practice at the clinical/public health interface.

GPHAC was formed late in 2015 on the basis that collaboration of diverse stakeholders, including state public health programs, is crucial to the translation of advances in genomics into population health benefits. Over the past year, two working groups have been formed:

  • The Evidence Working Group has identified a horizon scanning process to define genomics applications with enough evidence base at the population level.
  • The Implementation Working Group is developing an online guide that will provide information for public health programs interested in integrating genomics into programs.

In the first year the GPHAC focused on two cancer genetic applications, hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). These two hereditary cancers affect more than 1 million people in the United States. Most of them do not know they are affected even though evidence-based recommendations exist that can reduce cancer morbidity and mortality in affected individuals and their relatives.

During the meeting, leaders of the GPHAC reviewed progress over the past year and outlined plans for year 2 which include:

  • Extending the scope of GPHAC to include health systems in addition to public health programs, as well as adding familial hypercholesterolemia (FH) to the list of priority conditions to explore. Just like hereditary cancer, FH is relatively common, affecting about 1 million people in the United States, and is severely underdiagnosed even though evidence-based recommendations exist to prevent heart disease morbidity and mortality.
  • Forming two new working groups to increase the impact of GPHAC and develop tools for implementation and pilot projects that can be conducted in real world settings. 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 FH, LS, and HBOC. The Population Screening Working Group is designing an evidence-based framework that will provide the rationale and corresponding empirical data for the implementation of large-scale genomic sequencing programs in healthy adult populations.

The current activities of GPHAC represent the tip of the iceberg of research activities in the world of genomics, including diverse areas such as cancer genomics and precision medicine, rare diseases, and pharmacogenomics. GPHAC decided to focus its initial efforts on FH, HBOC, and LS as they represent an immediate unmet need in practice, and to showcase the opportunity for public health programs and health systems to save lives now, while the science of genomics matures.

The GPHAC website will be continuously updated with new documents, tools and resources as they become available. We are interested in your feedback and interest in joining GPHAC to accelerate the promise of genomics for population health.

Add your comments here.

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