Investigators at Harvard University, Brigham and Women's Hospital, and elsewhere share patient and healthcare provider perspectives on polygenic risk score (PRS) reporting for a paper appearing in Genome Medicine. The team relied on survey and qualitative semi-structured interviews with 21 primary care providers and more than two dozen patients to assess the understanding of and responses to mock clinical PRS reports presented in a binary or continuous manner. In general, the researchers found that an accurate understanding of risk tended to be limited to "high numeracy" patients who self-reported a strong understanding of numbers, though they note that "most patients understood the report at a high level." Continuous reports were more well-received than binary reports, they added, and healthcare providers saw potential benefits to the PRS approach overall, while expressing reservations around certain risk scenarios and available recommendations. "Our study suggests the need to investigate effective ways to dispel genetic determinism," the authors argue. "Because our [primary care provider] interviews highlighted that adoption of PRS will depend closely on the nature of existing clinical guidelines for risk management, how report design should vary depending on this availability should also be studied."
Polygenic Risk Score Feedback Provides Reporting Insights
Oct 10, 2022