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.

Public Interest in Population Genetic Screening for Cancer Risk

“…This aligns with prior work that has demonstrated potential disparities in genetic services use among these populations. (Shen et al, 2022;Sanderson et al, 2004;Childers et al, 2018;Armstrong et al, 2005;Orlando et al, 2019; The National Academies Collection: Reports funded by National Institutes of Health, 2018).…”

“…Several studies examining the public's interest in population genetic screening have shown that awareness about genetic screening for certain types of cancer is associated with being non-Hispanic White (Hay et al, 2018;Rubinsak et al, 2019), willingness to pay for testing, having a family history of cancer, and higher educational attainment. (Shen et al, 2022). Other population characteristics such as access to a primary care provider, rurality, income, insurance, sexual orientation, and gender have been shown to be related to genetic services use; however little is understood about their association with interested in and likelihood to participate in PGS.…”

Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review

“…We adhered to the Preferred Reporting Items for Systematic Review and Meta-analyses (PRISMA) reporting guidelines ( Moher et al, 2009 ) for this review ( Supplementary Appendix SA ). Details of the protocol for this systematic review were registered on PROSPERO and can be accessed at https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020198198 ( Shen et al, 2022 ).…”

“…Details of the protocol for this systematic review were registered on PROSPERO and can be accessed at https://www. crd.york.ac.uk/prospero/display_record.php?ID= CRD42020198198 (Shen et al, 2022).…”

Lessons learned from the pilot phase of a population wide genomic screening program: Building the base to reach a diverse cohort of 100,000 participants

“…Despite the accessibility of genetic information and growth in population-based screening, challenges exist to scaling up these approaches, including engaging large multidisciplinary teams of researchers and clinicians, ensuring public understanding of genetic information, equitable access and participation of diverse populations in genetic screening, and sustainability of population-based genetic screening programs. 6,7 Synergistic efforts to optimally use genomic information to inform clinical care and improve population health requires the use of implementation science to assess engagement with learning health systems, de ne and monitor project outcomes, and re ne and evaluate processes for improvement.…”