Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores Journal Article


Authors: Suckiel, S. A.; Braganza, G. T.; Aguiñiga, K. L.; Odgis, J. A.; Bonini, K. E.; Kenny, E. E.; Hamilton, J. G.; Abul-Husn, N. S.
Article Title: Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores
Abstract: 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. © 2022 The Authors
Keywords: adult; clinical article; genetics; risk factors; health behavior; risk factor; insurance; physician; consultation; language; african americans; speech; ethnicity; socioeconomics; african american; caucasian; race; semi structured interview; hispanic; thematic analysis; risk communication; adoption; whites; genomic medicine; humans; human; male; female; article; diverse populations; biobank; genetic risk score; hispanic or latino; genomic risk; polygenic risk scores
Journal Title: Genetics in Medicine
Volume: 24
Issue: 6
ISSN: 1098-3600
Publisher: Nature Publishing Group  
Date Published: 2022-06-01
Start Page: 1217
End Page: 1226
Language: English
DOI: 10.1016/j.gim.2022.03.006
PUBMED: 35380538
PROVIDER: scopus
PMCID: PMC10066541
DOI/URL:
Notes: Article -- Export Date: 1 July 2022 -- Source: Scopus
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  1. Jada Gabrielle Hamilton
    111 Hamilton