Evaluating the role of public health in implementation of genomics-related recommendations: a case study in hereditary cancers using the CDC Science Impact Framework

Public health plays an important role in ensuring access to interventions that can prevent disease, including implementation of evidence-based genomic recommendations. We used the Centers for Disease Control and Prevention (CDC) Science Impact Framework to trace the impact of public health activities and partnerships on implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Lynch Syndrome (LS) screening recommendation and the 2005 and 2013 United States Preventive Services Task Force (USPSTF) BRCA1 and BRCA2 testing recommendations. The EGAPP and USPSTF recommendations have each been cited by >300 peer-reviewed publications. CDC funds selected states to build capacity to integrate these recommendations into public health programs, through education, policy, surveillance, and partnerships. Most state cancer control plans include genomics-related goals, objectives, or strategies. Since the EGAPP recommendation, major public and private payers now provide coverage for LS screening for all newly diagnosed colorectal cancers. National guidelines and initiatives, including Healthy People 2020, included similar recommendations and cited the EGAPP and USPSTF recommendations. However, disparities in implementation based on race, ethnicity, and rural residence remain challenges. Public health achievements in promoting evidence-based use of genomics for prevention of hereditary cancers can inform future applications of genomics in public health.