Population‐based hereditary cancer screening in a general endoscopy clinic: Evaluating interest in, uptake, and outcomes of genetic services

Hereditary cancer syndromes are underdiagnosed due to limitations in guideline-based referral systems that rely on personal/family history and provider recognition. We evaluated the interest in, uptake of, and outcomes of genetic services by adults in an ambulatory endoscopy center to determine if population-based genetic screening could aid in hereditary cancer syndrome identification. Between February and September 2024, a hereditary cancer screening questionnaire was developed and distributed to 1010 adults at a community endoscopy clinic. The tool was based on National Comprehensive Cancer Network (NCCN) criteria and was designed to flag individuals with personal/family history suggestive of inherited cancer risk. We offered all participants a referral to genetic counseling regardless of risk. A total of 135 individuals (13.4%) expressed interest in a genetic counseling referral, with significantly higher interest among those who screened as high-risk and those who were younger: 105 (19.8%) of high-risk participants compared to 30 (6.2%) of low-risk participants (p < 0.001), and individuals under 45 years compared to those 45 and older (p < 0.002). Only 25 participants completed genetic counseling, and 11 proceeded with testing. Two individuals (18.1% of those tested) were found to have a pathogenic or likely pathogenic variant in hereditary cancer syndrome genes: ATM and NTHL1. Both met NCCN criteria but had not been previously referred for genetic counseling. Our self-administered screening tool successfully identified individuals at risk for hereditary cancer syndromes, including those who would have otherwise been missed. However, the feasibility, efficacy, and overall clinical value of population-based genetic screening in an average-risk population remain debatable given our labor-intensive process and low diagnostic yield observed in our study. Despite these challenges, our findings highlight three promising avenues to improve the identification of individuals with hereditary cancer syndromes and increase uptake of genetic services: continuing to prioritize high-risk individuals using traditional referral models, with an emphasis on improving provider education and recognition of at-risk individuals; leveraging technology to streamline risk assessment and referrals; and targeting younger populations who may be more interested and benefit from earlier intervention.