Distinguishing social and medical traits: perspectives of scientists using polygenic scores

Polygenic scores (PGS) have been developed for a wide variety of traits, such as cancer, risk tolerance, obesity, asthma, educational attainment, and cardiovascular disease. Prior research shows that the public tends to view the use of genetic information for medical traits more favorably than for social or other non-medical traits, and legal and policy discourse regularly treats medical and social traits as distinct categories. However, distinguishing between social and medical traits can be conceptually and practically challenging. Drawing on 47 semi-structured interviews with researchers who have developed or utilized PGS across a range of traits, this study examines how scientists discussed and conceptualized a dividing line between what is medical and what is social, as well as the perceived necessity of a medical/social divide. Overall, the scientists we interviewed broadly agreed that the line is ambiguous; they did not hold unequivocal views about what constitutes a social versus a medical trait, nor where a clear line might be drawn. Instead, they reasoned through any distinctions between social and medical traits in varied and sometimes conflicting ways, including attempting to draw the line, highlighting the role of social context in drawing the line, questioning the line’s relevance, and pointing to the line’s policy implications. We argue that this ambiguity has significant implications for how PGS research is conducted, interpreted, and regulated, calling for a reexamination of regulatory strategies that rely on this distinction.

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Publication Details

Journal
Journal of Community Genetics
Published
2026-02-14
DOI
https://doi.org/10.1007/s12687-026-00857-z
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

Distinguishing social and medical traits: perspectives of scientists using polygenic scores

Paul S. Appelbaum, Courtney Lynn Canter, Matthew Kucmanic, R. Jean Cadigan et al.
Journal of Community Genetics
BRCA gene mutations in cancer
article

Distinguishing social and medical traits: perspectives of scientists using polygenic scores

Paul S. Appelbaum, Courtney Lynn Canter, Matthew Kucmanic, R. Jean Cadigan, Karen M. Meagher, Margaret Waltz
article en

Abstract

Polygenic scores (PGS) have been developed for a wide variety of traits, such as cancer, risk tolerance, obesity, asthma, educational attainment, and cardiovascular disease. Prior research shows that the public tends to view the use of genetic information for medical traits more favorably than for social or other non-medical traits, and legal and policy discourse regularly treats medical and social traits as distinct categories. However, distinguishing between social and medical traits can be conceptually and practically challenging. Drawing on 47 semi-structured interviews with researchers who have developed or utilized PGS across a range of traits, this study examines how scientists discussed and conceptualized a dividing line between what is medical and what is social, as well as the perceived necessity of a medical/social divide. Overall, the scientists we interviewed broadly agreed that the line is ambiguous; they did not hold unequivocal views about what constitutes a social versus a medical trait, nor where a clear line might be drawn. Instead, they reasoned through any distinctions between social and medical traits in varied and sometimes conflicting ways, including attempting to draw the line, highlighting the role of social context in drawing the line, questioning the line’s relevance, and pointing to the line’s policy implications. We argue that this ambiguity has significant implications for how PGS research is conducted, interpreted, and regulated, calling for a reexamination of regulatory strategies that rely on this distinction.

Journal of Community GeneticsVol. 17(1)
University of North Carolina at Chapel Hill (US), University of Iowa (US), Temple University (US)
National Human Genome Research Institute
Openalex Percentile: Top 55%
BRCA gene mutations in cancer
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Distinguishing social and medical traits: perspectives of scientists using polygenic scores — Paul S. Appelbaum, Courtney Lynn Canter, et al. · Journal of Community Genetics (2026) | TGRS Research Map | TGRS