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

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, 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.

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Publication Details

Journal
Human Genetics and Genomics Advances
Published
2025-12-06
DOI
https://doi.org/10.1016/j.xhgg.2025.100554
Primary Topic
BRCA gene mutations in cancer
Type
article
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article

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

Ingrid A. Holm, Sabrina A. Suckiel, Wendy K. Chung, Maya Sabatello et al.
Human Genetics and Genomics Advances
BRCA gene mutations in cancer
article

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

Ingrid A. Holm, Sabrina A. Suckiel, Wendy K. Chung, Maya Sabatello, Melanie F. Myers, Brenna Boyd, Iftikhar J. Kullo, Georgia L. Wiesner, Nita A. Limdi, Courtney L. Scherr, Noura S. Abul‐Husn, Cynthia A. Prows, Håkon Håkonarson, Michael F. Murray, Eimear E. Kenny, Laura Golfinopoulos
article en

Abstract

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, 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.

Human Genetics and Genomics AdvancesVol. 7(1)
Northwestern University (US), Cincinnati Children's Hospital Medical Center (US), Boston Children's Hospital (US), Children's Hospital of Philadelphia (US), Medical College of Wisconsin (US), Columbia University Irving Medical Center (US), University of Alabama at Birmingham (US), Genomic Health (United States) (US), Vanderbilt University Medical Center (US), Icahn School of Medicine at Mount Sinai (US)
Openalex Percentile: Top 60%
BRCA gene mutations in cancer
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