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Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study

Shenazar Esmundo,Nenette A Cáceres,Charité Ricker,Gregory E. Idos,Nicole C. Lorona,Yelba M Castellon-Lopez,Stephanie L. Schmit,Cathy D. Meade,C. Gwede,Nathalie Nguyen,Jane C. Figueiredo

Published 2025 in Journal of Genetic Counseling

ABSTRACT

Polygenic risk scores (PRS), a measure that sums multiple common genetic susceptibility variants into a single burden measure, can help identify individuals at higher risk for colorectal cancer (CRC). Consequently, there is growing interest in its potential use to guide screening practices, despite the current lack of evidence‐based guidelines on the clinical utility of PRS models. Therefore, there is a need to understand the potential challenges and factors associated with PRS use in primary care settings. This qualitative study explores the perceptions of healthcare providers with PRS information to guide CRC screening decisions in the primary care setting. Using an exploratory approach, we conducted semi‐structured interviews with 10 healthcare providers. The socioecological model guided the development of the interview questions. Transcripts were coded based on emergent themes. A total of seven themes were identified in this study, and each was organized using the socioecological model at the individual, interpersonal, community, and organizational levels. One key finding was the limited knowledge of PRS and the distinction between PRS and genetic testing for high‐penetrant germline mutations. Providers shared the need for training, education, and comprehensive clinical guidelines for the use of PRS. This study provides insights to better optimize genetic education, testing, access, and care for improved CRC screening in at‐risk individuals.

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