Awareness, knowledge, and attitudes toward polygenic risk scores for breast cancer in multiethnic high-risk cohorts of women.

Freeman, Jincong Q; Sun, Yijia; Guo, Wenji; Aschebrook-Kilfoy, Briseis; Essling, Cara; McEvilly, Jan-Marie; Siljander, Ilona; Basdag, Hatice et al. · Genet Med · 2025

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Abstract

To examine awareness, knowledge, and attitudes toward breast cancer (BC) polygenic risk scores (PRS) in women with high risk. We surveyed women without BC enrolled in the Chicago Multiethnic Epidemiologic BC Cohort and Cancer Prone Registry between July and September 2024. PRS awareness was defined as having ever read/heard about PRS and discussed PRS with a provider. PRS knowledge scores range from 0 to 11. Higher scores indicate better knowledge. We also asked to what extent participants agreed that PRS testing should be offered to the general population or a routine part of BC risk assessment and how likely receiving PRS would influence their risk management behaviors. Of 828 women, 18.5% had read/heard about PRS, and 13.2% discussed PRS with a provider. Non-Hispanic White women scored slightly higher on PRS knowledge than Non-Hispanic Black and multiracial/other women. Higher education (P-trend < .001) and income (P-trend = .002) levels were associated with increased knowledge scores. More than 90.0% agreed/strongly agreed that PRS testing should be offered to the general population or a routine part of risk assessment. In total, 94.0% reported that PRS receipt would likely/very likely influence their risk management behaviors. This study suggests an opportunity for tailored PRS education interventions and the need to improve patient-provider communication and knowledge gaps when implementing genetic testing to increase personalized BC screening.

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