Population Genomic Screening for Hereditary Cancer Risk: Patient Experience, Perceptions, and Downstream Clinical Outcomes

Abstract

Population‐wide genomic screening (PWGS) offers a novel approach to identifying individuals at risk for hereditary cancer conditions such as Hereditary Breast and Ovarian Cancer (HBOC) Syndrome and Lynch Syndrome (LS). However, limited data exist on patient experiences and clinical outcomes following result disclosure. This study evaluated participant data from In Our DNA SC, a PWGS initiative offering free, CLIA‐certified genomic screening and genetic counseling. We analyzed survey and electronic medical record data of participants who received a clinically actionable result for HBOC or LS and who agreed to post‐test genetic counseling. Surveys were administered at three time points: pre‐counseling, 30‐days post‐counseling, and 6‐months post‐counseling. Of 260 invited, 52 participants completed the full survey series. Over half of participants (55.5%) reported being surprised by their genetic test result. Overall satisfaction with the return of results was high (mean > 4.5/5). Most emotional and cognitive responses did not differ significantly between groups, however, participants with LS were significantly more likely to report feeling calm/comfortable, whereas participants with HBOC reported thinking about their results more often. Most participants engaged in follow‐up risk management: 80.8% discussed results with providers, 69.2% completed screening, and 51.9% were referred to specialists. Overall, findings support the feasibility and acceptability of PWGS in unselected populations. Future research should investigate the need for tailored support and strategies to reduce attrition to guide implementation of subsequent PWGS initiatives.