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<p>Polygenic risk scores (PRS) are increasingly positioned as precision public health tools, yet their societal implications remain contested. This study explores how healthcare providers and researchers in Europe view the broader social, cultural, and public health dimensions of PRS, beyond their clinical utility. We conducted 26 semi-structured interviews with professionals in diverse medical and research fields. Transcripts were thematically analysed to identify recurring patterns of meaning. Participants’ perspectives were organized into six themes addressing: the societal implications of using PRS to inform <i>public health prevention</i> programs and institutional responsibilities with regard to the social determinants of diseases; <i>equity</i> concerns, including transferability across populations, fair distribution of benefits, and access disparities; the socio-cultural narratives—and political implications- of the shift <i>from diagnosis to prediction</i> in genomic medicine; ethical challenges in <i>direct-to-consumer PRS</i>, particularly regarding responsibility and regulation; <i>structural barriers</i> hindering clinical use and implementation; the need for <i>normative frameworks</i> guiding ethical oversight. Our findings highlight that PRS in society carry implicit assumptions about risk, responsibility, and the cultural and institutional values that shape their use and impact. While PRS may inform public health strategies, their promise to improve population health is contingent upon approaches that are ethically sensitive, attentive to societal and institutional contexts, and aligned with the specific objectives they are intended to serve within public healthcare systems.</p>

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Polygenic risk scores (PRS) in society. Healthcare providers and researchers’ views on the public health and socio-cultural implications of PRS in healthcare contexts

  • 期刊论文

  • 发表日期：

    2026年5月26日

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  • Lara Andreoli,
  • Hilde Peeters,
  • Kristel Van Steen,
  • Kris Dierickx

摘要

Polygenic risk scores (PRS) are increasingly positioned as precision public health tools, yet their societal implications remain contested. This study explores how healthcare providers and researchers in Europe view the broader social, cultural, and public health dimensions of PRS, beyond their clinical utility. We conducted 26 semi-structured interviews with professionals in diverse medical and research fields. Transcripts were thematically analysed to identify recurring patterns of meaning. Participants’ perspectives were organized into six themes addressing: the societal implications of using PRS to inform public health prevention programs and institutional responsibilities with regard to the social determinants of diseases; equity concerns, including transferability across populations, fair distribution of benefits, and access disparities; the socio-cultural narratives—and political implications- of the shift from diagnosis to prediction in genomic medicine; ethical challenges in direct-to-consumer PRS, particularly regarding responsibility and regulation; structural barriers hindering clinical use and implementation; the need for normative frameworks guiding ethical oversight. Our findings highlight that PRS in society carry implicit assumptions about risk, responsibility, and the cultural and institutional values that shape their use and impact. While PRS may inform public health strategies, their promise to improve population health is contingent upon approaches that are ethically sensitive, attentive to societal and institutional contexts, and aligned with the specific objectives they are intended to serve within public healthcare systems.