Previvors’ Perspectives on Population-Based Genetic Screening in the Primary Care Setting

Abstract

Advances in next-generation sequencing have led to the utilization of multigene cancer panel testing for assessing inherent cancer risk. Multigene cancer panels could be the key to unlocking multiple clinical results at once but may also open the door to potential uncertainties. The EDGE Study is a clinical implementation study that facilitated genetic testing using a population-based screening tool in the primary care setting. EDGE offered hereditary cancer genetic testing using a panel of 29 different genes, associated with hereditary risk for eight different cancers. Genetic variants ranged from low-, moderate-, and high-penetrance. Semi-structured interviews were conducted with previvors (those with a positive pathogenic test result) to evaluate experiences following receiving results from the genetic test. Thematic analysis was utilized to identify key themes and findings. We discovered that communication with providers and family was critical in understanding and processing results. Older previvors and those with low- and moderate-penetrance variants explained low utility. This study offers important insights into the implications of multigene cancer panel testing on genes of varying penetrance.