HIGH-RISK women had limited awareness yet strong support for breast cancer polygenic risk scores in clinical risk assessment.
Study Snapshot
In a survey of 828 women at elevated breast cancer risk without a prior diagnosis, only 18.5% had read or heard about polygenic risk scores and 13.2% had discussed PRS with a clinician. Knowledge varied by sociodemographic factors, with slightly higher scores among non-Hispanic White women compared with non-Hispanic Black and multiracial or other participants. Education and income tracked positively with knowledge, indicating a gradient that may shape uptake and understanding during risk consultations.
Polygenic Risk Scores and Patient Attitudes
Despite low awareness and uneven knowledge, enthusiasm for clinical availability was high. Over 90% agreed that polygenic risk scores should be offered to the general population or incorporated as a routine element of breast cancer risk assessment. Nearly all respondents, 94%, anticipated that receiving a PRS would influence their future risk management choices, suggesting readiness to act on results once explained and delivered in context.
Closing The Communication Gap
The findings point to a practical opportunity for targeted education that reaches multiethnic high-risk groups and addresses terminology, limitations, and actionability. Clinicians should prepare to translate polygenic risk scores alongside established factors such as family history and age, using plain language and shared decision-making to guide screening, prevention, and follow-up. Improving provider familiarity and normalizing discussions during routine visits may reduce disparities in understanding and help align risk perception with evidence-based options.
Clinical Implications for U.S. Practice
For breast clinics and primary care, the preference for access underscores the value of integrating polygenic risk scores into structured risk assessments while monitoring for inequities in comprehension. Embedding educational touchpoints, clear result summaries, and concrete next steps may support appropriate use, especially when counseling high-risk women from diverse backgrounds.
Reference: Freeman JQ et al. Awareness, knowledge, and attitudes toward polygenic risk scores for breast cancer in multiethnic high-risk cohorts of women. Genet Med. 2025:101603.
