No abstract

Article first published online 16 June 2015.Supplemental Digital Content is Available in the Text.

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

◥Cascade testing (i.e., genetic testing of family members of individuals with disease) among families affected by hereditary cancer disorders, such as Lynch syndrome, is suboptimal and thus represents a missed opportunity in cancer prevention. We aimed to fill a gap in the literature by exploring multilevel barriers and facilitators to the implementation of cascade testing for Lynch syndrome. We conducted semistructured, in-depth interviews guided by the Consolidated Framework for Implementation Research and the Integrated Behavioral Model among key stakeholders (n ¼ 60): Patients with Lynch syndrome and relatives (n ¼ 20), providers (n ¼ 20), and administrators (n ¼ 20). Transcripts were double-coded (20% sample) using template analysis in ATLAS.ti. Barriers identified included (i) low awareness about Lynch syndrome, (ii) psychosocial barriers, (iii) lack of provider follow-up, (iv) accessibility to genetic counseling, and (v) fear of discrimination. Facilitators included (i) motivation to engage in cascade testing and (ii) free genetic testing offered to relatives. Stakeholders also recommended strategies to overcome implementation barriers in the short-term (increasing education, preparing patients for communicating with relatives), medium-term (optimizing clinical workflow and staffing resources), and long-term (nationwide standardization). These findings indicate that modifiable, multilevel barriers to the implementation of cascade testing in Lynch syndrome are experienced across stakeholders. Understanding and targeting implementation barriers is imperative to achieving public health impact of precision health interventions such as cascade testing.

Lynch syndrome is the most common inherited cancer syndrome that increases the risk of developing colorectal and endometrial cancer. Universal screening guidelines were first recommended by the Centers for Disease Control and Prevention (CDC) in 2009 and are updated annually by multiple societies. Therefore, one would expect genetic testing rates to increase over time. But testing remains underutilized among those with colorectal or endometrial cancer, even though early detection can improve prognosis and survival rates. In this study, we aimed to understand differences in genetic testing uptake among those with colorectal cancer or endometrial cancer from 2005, 2010, 2015, using data from the National Health Interview Survey (NHIS). We examined genetic testing uptake across cancer-type, age (≤50 or ≥51), sex, race, insurance, and education using a χ2 statistical analysis. Despite an upward genetic testing trend in 2010, we found no significant differences in genetic testing uptake over time. In 2010, non-White individuals experienced the highest increase from 2005 in comparison with White individuals. However, genetic testing rates declined for both groups by 2015. Our findings show that genetic testing for colorectal cancer and endometrial cancer did not increase over a 10-year period in spite of guidelines that recommend testing. Prevention Relevance: Genetic testing uptake for colorectal cancer and endometrial cancer has not increased over a 10-year period in spite of universal screening guidelines. More genetic testing education is needed at the provider and patient level to improve screening strategies for cancer patients who are most at risk for Lynch syndrome.