DNA-Based Population Screening for Adults

AbstractPopulation screening is a long-established tool for effectively identifying disease risk when existing approaches are inadequate for optimizing care. DNA-based population screening (DNAPS) in adult populations has the power to identify individuals at an increased genetic risk of cancer, heart disease, and other health conditions, thus allowing for evidence-based interventions to reduce associated morbidity and mortality. One example of the type of risk identified in such screening is BRCA1- and BRCA2-associated cancer risk, where current risk-identification strategies have been shown to miss greater than 70% of at-risk individuals. Since the first DNA-based screening pilot in adults was initiated in 2008, a growing number of other large-scale projects carrying out DNAPS in adults have followed, and, in aggregate, these projects are engaging millions of people around the world. There are features of DNAPS that make this population screening approach distinct from other population health screens, such as the scale of the datasets that will be created and stored for each participant. This review focuses on an examination of DNAPS in the context of other population health screens, the state of the evidence for this screening approach, and gaps to be addressed to optimize implementation of this population screening approach.