TY - JOUR
T1 - Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores
AU - Suckiel, Sabrina A.
AU - Braganza, Giovanna T.
AU - Aguiñiga, Karla López
AU - Odgis, Jacqueline A.
AU - Bonini, Katherine E.
AU - Kenny, Eimear E.
AU - Hamilton, Jada G.
AU - Abul-Husn, Noura S.
N1 - Funding Information:
This study was supported by the National Human Genome Research Institute under award number U01HG011176. N.S.A.H. had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Conceptualization: S.A.S. E.E.K. N.S.A.H.; Methodology: S.A.S. J.G.H. N.S.A.H.; Data Curation: S.A.S. G.T.B. K.L.A.; Investigation: S.A.S. G.T.B. K.L.A.; Formal Analysis: S.A.S. G.T.B. K.L.A. J.A.O. K.E.D.; Funding Acquisition: E.E.K. N.S.A.H.; Project Administration: S.A.S. G.T.B.; Supervision: N.S.A.H.; Writing-original draft: S.A.S. G.T.B. N.S.A.H.; Writing-review and editing: S.A.S. G.T.B. K.L.A. J.A.O. K.E.D. J.G.H. E.E.K. N.S.A.H. The Institutional Review Board of Icahn School of Medicine at Mount Sinai approved this research study (IRB-20-01336). Participants were recruited from the Mount Sinai BioMe Biobank24 (https://icahn.mssm.edu/research/ipm/programs/biome-biobank). All BioMe participants enrolled in this study provided informed consent specific to this study. No biobank samples were used in this research.
Funding Information:
E.E.K. has received speaker honoraria from Illumina, 23andMe, and Regeneron Pharmaceuticals and serves as a scientific board member for Galateo Bio. N.S.A.H. was previously employed by Regeneron Pharmaceuticals, has received speaker honoraria from Genentech and Allelica, has research funding from Akcea, and serves as a scientific advisory board member for Allelica. All other authors declare no conflicts of interest.
Publisher Copyright:
© 2022 The Authors
PY - 2022/6
Y1 - 2022/6
N2 - Purpose: As polygenic risk scores (PRS) emerge as promising tools to inform clinical care, there is a pressing need for patient-centered evidence to guide their implementation, particularly in diverse populations. Here, we conducted in-depth interviews of diverse Spanish- and English-speaking patients to explore their perspectives on clinical PRS. Methods: We enrolled 30 biobank participants aged 35-50 years through a purposive sampling strategy, ensuring that >75% self-reported as African/African American or Hispanic/Latinx and half were Spanish-speaking. Semistructured interviews in Spanish or English explored attitudes toward PRS, barriers to adoption, and communication preferences. Data were analyzed using an inductive thematic analysis approach. Results: Perceived utility of clinical PRS focused on the potential for personal health benefits, and most participants stated that high-risk results would prompt physician consultations and health behavior changes. There was little concern among participants about the limited predictive power of PRS for non-European populations. Barriers to uptake of PRS testing and adoption of PRS-related recommendations included socioeconomic factors, insurance status, race, ethnicity, language, and inadequate understanding of PRS. Participants favored in-person PRS result disclosure by their physician. Conclusion: Findings provide valuable insight into diverse patients’ attitudes and potential barriers related to clinical PRS, guiding future research and patient-centered clinical implementation.
AB - Purpose: As polygenic risk scores (PRS) emerge as promising tools to inform clinical care, there is a pressing need for patient-centered evidence to guide their implementation, particularly in diverse populations. Here, we conducted in-depth interviews of diverse Spanish- and English-speaking patients to explore their perspectives on clinical PRS. Methods: We enrolled 30 biobank participants aged 35-50 years through a purposive sampling strategy, ensuring that >75% self-reported as African/African American or Hispanic/Latinx and half were Spanish-speaking. Semistructured interviews in Spanish or English explored attitudes toward PRS, barriers to adoption, and communication preferences. Data were analyzed using an inductive thematic analysis approach. Results: Perceived utility of clinical PRS focused on the potential for personal health benefits, and most participants stated that high-risk results would prompt physician consultations and health behavior changes. There was little concern among participants about the limited predictive power of PRS for non-European populations. Barriers to uptake of PRS testing and adoption of PRS-related recommendations included socioeconomic factors, insurance status, race, ethnicity, language, and inadequate understanding of PRS. Participants favored in-person PRS result disclosure by their physician. Conclusion: Findings provide valuable insight into diverse patients’ attitudes and potential barriers related to clinical PRS, guiding future research and patient-centered clinical implementation.
KW - Diverse populations
KW - Genomic medicine
KW - Genomic risk
KW - Polygenic risk scores
KW - Risk communication
UR - http://www.scopus.com/inward/record.url?scp=85127518534&partnerID=8YFLogxK
U2 - 10.1016/j.gim.2022.03.006
DO - 10.1016/j.gim.2022.03.006
M3 - Article
C2 - 35380538
AN - SCOPUS:85127518534
VL - 24
SP - 1217
EP - 1226
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 6
ER -