Genetics in Medicine

Patient and primary care clinician perspectives on polygenic risk scores for prostate cancer screening: A national qualitative study

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Abstract

PURPOSE: Polygenic risk scores (PRS) have been proposed as adjuncts to clinical risk prediction for prostate cancer, but little is known about patient-centered implementation of PRS-informed shared decision-making (SDM). We explored patients' and primary care clinicians' perspectives on using PRS in SDM about prostate cancer screening. METHODS: We interviewed 2 national samples-male patients aged 40 to 60 years without prior prostate cancer and primary care clinicians-within a national integrated health care system about current screening practices, understanding of PRS, and anticipated impact on prostate-specific antigen (PSA) testing decisions. Transcripts were analyzed using a modified grounded theory approach. RESULTS: We interviewed 21 primary care providers (Doctor of Medicine/Doctor of Osteopathic Medicine/Nurse Practitioner/Physician Assistant), 7 primary care nurses (registered nurse/ licensed practical nurse), and 42 patients. Many clinicians saw utility in PRS for individualizing screening, especially for high-risk patients, though some did not anticipate changing their PSA testing approach. Clinicians anticipated that patients would struggle to understand PRS, and some patients did misunderstand genetic risk and how to interpret the results. Most patients did not anticipate delaying or reducing PSA testing after low-risk results, but many said that high-risk results would motivate earlier or more frequent screening. CONCLUSION: Clinicians and patients anticipate acting on PRS results asymmetrically, favoring heightened screening for high-risk individuals but not reduced screening for those at low risk. Current PSA testing is already variable and not always guideline-concordant; introducing PRS will require additional strategies to promote high-quality SDM.