Healthcare professionals’ experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study

作者：Sabrina A. Suckiel, Laura Golfinopoulos, Courtney L. Scherr, Brenna Boyd, Wendy K. Chung, Håkon Håkonarson, Ingrid A. Holm, Iftikhar J. Kullo, Nita A. Limdi, Michael F. Murray, Melanie F. Myers, Cynthia A. Prows, Maya Sabatello, Georgia L. Wiesner, Eimear E. Kenny, Noura S. Abul‐Husn · 发表于：Human Genetics and Genomics Advances · 年份：2025 · DOI：10.1016/j.xhgg.2025.100554 · 被引用次数：1 · 研究领域：BRCA gene mutations in cancer、Genomics and Rare Diseases、Genetic Associations and Epidemiology

Clinical interest in polygenic (PRS) and integrated (PRS plus clinical factors) risk scores (IRS) is growing, yet little data exist on how healthcare providers navigate returning these results to patients. The eMERGE IV study implemented a genome-informed risk assessment for 11 common complex conditions, incorporating PRS, IRS, and monogenic findings, offering an opportunity to examine providers' experiences disclosing these results. We used a cross-sectional survey with closed- and open-ended questions to assess result disclosure experiences. All study providers involved in disclosing high-risk results were invited to participate. Of 21 respondents, 86% were female and the mean age was 35 years. Most were genetic counselors (76%), followed by pharmacists (10%), research coordinators (10%), and a nurse/nurse practitioner (5%). Confidence in disclosing high-risk results was highest for monogenic (92% extremely/very confident), followed by PRS (78%) and IRS (69%). Most rated disclosures as slightly/moderately complex (77% monogenic, 89% PRS, 69% IRS). Breast cancer (69%) and obesity (39%) were rated as the most challenging conditions to disclose. Key considerations when delivering PRS/IRS included clarifying clinical meaning, clear communication of risk, and acknowledging limitations. Challenges involved ensuring patient understanding, confusion over care recommendations, and PRS complexity. Concerns reflected both personal and perceived patient views, including PRS validity, i...