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

Abstract

Public health plays an important role in ensuring access to interventions that can prevent disease, including the 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 the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome 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 Lynch Syndrome 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 the evidence-based use of genomics for the prevention of hereditary cancers can inform future applications of genomics in public health.

Keywords: Science Impact Framework; evaluation; hereditary breast and ovarian cancer; Lynch syndrome; public health genomics.

Figure 1

CDC’s Science Impact Framework illustrates the “Historical Tracing Method” with 5 domains of CDC scientific influence that define degrees of impact that may not be chronological. The degree of impact is not necessarily a progression; therefore, events captured may not be reflected at every domain. In addition, there may be loop-back at any point. Health outcomes are the ultimate goal, driven by the 5 domains of influence. Disseminating science can include publication of findings in peer-reviewed journals, presentation at conferences, or through other media channels. Creating awareness involves receiving recognition and may include awards, general awareness, or acceptance of a concept or findings by scientific community or policy makers, generating new discussion. Catalyzing action may include partnerships and collaborations, technology creation, congressional hearings or bills, or introduction in practice. Effecting change may include building public health capacity, legal or policy change, cultural, social, or behavioral change, or economic change. Shaping the future may include new hypotheses or strategies, implementation of new programs/initiatives, or quality improvement.