Leveraging Implementation Science to Address Health Disparities in Genomic Medicine: Examples from the Field

The integration of genomic data into screening, prevention, diagnosis, and treatment for clinical and public health practices has been slow and challenging. Implementation science can be applied in tackling the barriers and challenges as well as exploring opportunities and best practices for integrating genomic data into routine clinical and public health practice.In this article, we define the state of disparities in genomic medicine and focus predominantly on late-stage research findings. We use case studies from genetic testing for cardiovascular diseases (familial hypercholesterolemia) and cancer (Lynch syndrome and hereditary breast and ovarian cancer syndrome) in high-risk populations to consider current disparities and related barriers in turning genomic advances into population health impact to advance health equity. Finally, we address how implementation science can address these translational barriers and we discuss the strategic importance of collaborative multi-stakeholder approaches that engage public health agencies, professional societies, academic health and research centers, community clinics, and patients and their families to work collectively to improve population health and reduce or eliminate health inequities.