The Impact of Patient Race and Polygenic Risk Scores on Genetic Counselors' Risk Assessment and Management in Breast Cancer Vignettes
Ethical Legal Social Issues (ELSI) Public Health and Policy
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Primary Categories:
- Genetic Counseling
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Secondary Categories:
- Genetic Counseling
Introduction:
Introduction: Polygenic risk scores (PRS) have potential clinical application for risk stratification and guiding prevention and screening management and are available for common hereditary cancers discussed in genetic counseling clinics. However, the accuracy of PRS for non-European populations is uncertain due to because the source data comes mainly from European-descent individuals, which can contribute to racial health disparities. The conflation of race, a social construct, with ancestry, a biological construct, adds to the complication and confusion of the information carried by race in clinical genomics. In addition, awareness of higher breast cancer-specific mortality and the increased risk of triple-negative breast cancer in Black women may play an implicit or explicit role in genetic counselors’ (GCs’) clinical risk assessments.
Methods:
Methods: To explore how cancer GCs interpret PRS in cancer risk management and the potential impact of patient race, we conducted a survey of risk assessment and management before and after incorporating PRS into two clinical vignettes. 170 cancer GCs were randomized to see one of two sets of vignettes of cancer genetic counseling involving PRS results, with the only difference between vignettes being patient self-identified race (White vs Black).
Results:
Results: PRS that elevated or lowered risk relative to the standard of care model, Tyrer-Cuzick, were associated with corresponding increases and decreases in risk perception, respectively. Providing a PRS can change GCs’ overall level of support for breast MRI/mammogram screening and chemotherapy, and prophylactic mastectomy, although at least one-third of GCs (ranging from 32%-88%) did not change their ratings for risk assessments and prevention strategy discussions after the addition of PRS. Patient race did not impact pre- and post-PRS assessment or levels of support for prevention strategies except for prophylactic mastectomy. Few GCs recommended prophylactic mastectomy, but some GCs were slightly more likely to recommend prophylactic mastectomy to Black rather than White patients regardless of whether PRS predicted higher or lower lifetime risk than Tyrer-Cuzick model.
Conclusion:
Conclusion: These results forecast ethical concerns about inequities in future PRS clinical implementation and in cancer genetic counseling more generally. The results intend to forecast issues in future PRS clinical implementation.
Introduction: Polygenic risk scores (PRS) have potential clinical application for risk stratification and guiding prevention and screening management and are available for common hereditary cancers discussed in genetic counseling clinics. However, the accuracy of PRS for non-European populations is uncertain due to because the source data comes mainly from European-descent individuals, which can contribute to racial health disparities. The conflation of race, a social construct, with ancestry, a biological construct, adds to the complication and confusion of the information carried by race in clinical genomics. In addition, awareness of higher breast cancer-specific mortality and the increased risk of triple-negative breast cancer in Black women may play an implicit or explicit role in genetic counselors’ (GCs’) clinical risk assessments.
Methods:
Methods: To explore how cancer GCs interpret PRS in cancer risk management and the potential impact of patient race, we conducted a survey of risk assessment and management before and after incorporating PRS into two clinical vignettes. 170 cancer GCs were randomized to see one of two sets of vignettes of cancer genetic counseling involving PRS results, with the only difference between vignettes being patient self-identified race (White vs Black).
Results:
Results: PRS that elevated or lowered risk relative to the standard of care model, Tyrer-Cuzick, were associated with corresponding increases and decreases in risk perception, respectively. Providing a PRS can change GCs’ overall level of support for breast MRI/mammogram screening and chemotherapy, and prophylactic mastectomy, although at least one-third of GCs (ranging from 32%-88%) did not change their ratings for risk assessments and prevention strategy discussions after the addition of PRS. Patient race did not impact pre- and post-PRS assessment or levels of support for prevention strategies except for prophylactic mastectomy. Few GCs recommended prophylactic mastectomy, but some GCs were slightly more likely to recommend prophylactic mastectomy to Black rather than White patients regardless of whether PRS predicted higher or lower lifetime risk than Tyrer-Cuzick model.
Conclusion:
Conclusion: These results forecast ethical concerns about inequities in future PRS clinical implementation and in cancer genetic counseling more generally. The results intend to forecast issues in future PRS clinical implementation.
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