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

Sabrina A. Suckiel, Giovanna T. Braganza, Karla López Aguiñiga, Jacqueline A. Odgis, Katherine E. Bonini, Eimear E. Kenny, Jada G. Hamilton, Noura S. Abul-Husn

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish
Pages (from-to)1217-1226
Number of pages10
JournalGenetics in Medicine
Issue number6
StatePublished - Jun 2022


  • Diverse populations
  • Genomic medicine
  • Genomic risk
  • Polygenic risk scores
  • Risk communication


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