Barriers and facilitators for population genetic screening in healthy populations: a systematic review

Abstract Studies suggest that 1-3% of the general population in the United States unknowingly carry a genetic risk factor for a common hereditary disease. Knowing this information could help guide improved disease risk management and preventive care. Population-based genetic screening is the process of offering otherwise healthy patients screening for genetic variants that predispose them to certain diseases that are “clinically actionable”, meaning that they can be prevented or mitigated if they are detected early in asymptomatic individuals. Optimizing population genetic screening may significantly reduce morbidity and mortality from these diseases by informing risk-specific prevention or mitigation strategies and facilitating appropriate participation in early detection and screening. To better understand current barriers, facilitators, perceptions, and outcomes related to the implementation of population screening, we conducted a systematic review and searched PubMed, Embase, and Scopus for articles published from date of database inception to May 2020. We included articles that (1) detailed the perspectives of participants in population screening programs and (2) described the barriers, facilitators, perceptions, and outcomes related to population genetic screening programs among patients, healthcare providers, and the public. We excluded articles that (1) focused on direct-to-consumer or risk-based genetic testing and (2) collected data before January 2000. Twenty-nine articles met these criteria. Barriers and facilitators to population genetic screening were organized by the Social Ecological Model and further categorized by themes. We found that research in population genetic screening has focused on stakeholder attitudes about screening with all included studies designed to elucidate individuals’ perceptions. Additionally, inadequate knowledge and perceived limited clinical utility presented a barrier for healthcare provider uptake. There were very few studies that conducted long-term follow-up and analysis of population genetic screening. Our findings suggest that these and other factors, such as prescreen counseling and education, may play a role in the acceptance and implementation of population-based genetic screening. Future studies to investigate macro-level determinants, provider buy-in and education, prescreen counseling, and long-term outcomes of population genetic screening are needed for the effective design and implementation of such programs.