HGG Adv. 2025 Dec 6:100554. doi: 10.1016/j.xhgg.2025.100554. Online ahead of print.
ABSTRACT
Clinical interest in polygenic (PRS) and integrated (PRS plus clinical factors) risk scores (IRS) is growing, yet little data exists 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. 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, interpretation of relative risk, and healthcare impact. Study findings provide early insights into result disclosure practices for different types of genomic risk and conditions, which can inform training, resources, and clinical integration of these emerging genomic tools.
PMID:41353565 | DOI:10.1016/j.xhgg.2025.100554
