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. Population genetic screening is the process of offering otherwise healthy patients in the general population testing for genomic variants that predispose them to diseases that are clinically actionable, meaning that they can be prevented or mitigated if they are detected early. Population genetic screening may significantly reduce morbidity and mortality from these diseases by informing risk-specific prevention or treatment strategies and facilitating appropriate participation in early detection. To better understand current barriers, facilitators, perceptions, and outcomes related to the implementation of population genetic 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 genetic 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) were published before January 2000. Thirty 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 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 evaluation of population genetic screening. Our findings suggest that these and other factors, such as prescreen counseling and education, may play a role in the adoption and implementation of population genetic screening. Future studies to investigate macro-level determinants, strategies to increase provider buy-in and knowledge, delivery models for prescreen counseling, and long-term outcomes of population genetic screening are needed for the effective design and implementation of such programs.Systematic Review Registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020198198

Motivations and Barriers to Participation in a Randomized Trial on Melanoma Genomic Risk: A Mixed-Methods Analysis

“…For those who declined participation in the study, it was important for us to understand the barriers that were impeding their participation. Distrust in genetic data collection and fear of genetic discrimination as a barrier to participation have been noted in previous genetic and genomic research studies [ 6 , 23 ]. In Australia, at the time of writing there is a partial moratorium (ban) limiting the use of genetic test results in life insurance underwriting.…”

“…In primary care settings, studies have shown that individual characteristics impact the decision to accept or refuse participation in genomic research, for example, Hay et al, found that participants with higher perceived skin cancer risk or interest in learning about genes were more likely to participate in a study on skin cancer genetic testing in primary care [ 5 ]. However, limited research on providing polygenic risk information has been conducted in a community context, to examine barriers and motivations among the general population [ 6 ]. Offering polygenic testing and personal risk information in a community setting includes individuals with a broad range of characteristics (e.g., people with and without a family history of disease, wide age range, individuals who may be symptomatic or asymptomatic for other conditions), unlike research studies in healthcare settings or higher risk populations, which typically focus on patients with a strong personal or family disease history and knowledge or interest in personal disease risk.…”

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

“…The initial rate of sample collection (55.9%) is on par with collection rates among other population genomic screening programs [ 7 ]. Notably, DNA sample collection during the pilot phase occurred only in clinical sites and faced challenges with clinical encounters during the COVID-19 Omicron surge.…”

“…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, define and monitor project outcomes, and refine and evaluate processes for improvement.…”

Medical and psychosocial outcomes of state‐funded population genomic screening

“…9 Therefore it is important for genomic screening programs to assess and report strengths, limitations, and outcomes of their specific data, as this information is critical to determine clinical utility of population genomic screening and precipitate provider uptake. [9][10][11] When evaluating benefits and limitations of population genomic screening, current and long-term clinical outcomes as well as personal impacts on the individual and their close relatives should be considered. Data have shown no statistically significant long-term differences in level of depression, health-anxiety, distress, uncertainty, and overall quality of life before and after undergoing population screening for cancer predisposition.…”