medRxivGenetic & Genomic MedicinePreprint
Adult Patient Perspectives on Psychiatric Polygenic Risk Scores
Craig Waldence McFarlandiD, Amanda R. MerneriD, Page M. TrotteriD, Abigail C. MartineziD, Lauren A. GinniD, Jonathan FrumovitziD, Daphne M. AytoniD, Takahiro SodaiD, Eric A. StorchiD, Stacey PereiraiD, Gabriel Lázaro‐MuñoziD
Abstract
Polygenic risk scores (PRS) are rapidly developing, enabling estimates of genetic risk for developing psychiatric disorders. Psychiatric PRS are also increasingly entering consumer and clinical settings. Yet, little is known about how adults with psychiatric disorders perceive their potential use. Here, we conducted semi-structured interviews with 29 adults with psychiatric disorders to examine their perspectives on hypothetically receiving psychiatric PRS for themselves and their current or future children. Key themes emerged around perceived utility, motivations and deterrents to genetic testing, interpretation of PRS, and anticipated responses to results. In particular, participants expressed hope that PRS could support self-understanding, inform better psychiatric care, and enable earlier recognition of difficulties for their children. Participants however raised multiple concerns, including those of privacy, stigma, discrimination, eugenics, and the risk of self-fulling prophecies. Together, these findings offer critical empirical evidence to inform guidance on the responsible use of psychiatric PRS in clinical and consumer settings.
- organism: human
- assay: GWAS summary statistics
- research focus: benchmarking
- research focus: database / resource
- research focus: software / tool
- approach: statistical model
- Citations
- 0
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- A Qualitative Study Exploring the Consumer Experience of Receiving Self-Initiated Polygenic Risk Scores from a Third-Party Website
Kiara Lowes, Kennedy J. Borle, … Jehannine Austin·European Journal of Human GeneticsPeer-reviewed·Oct 4, 2022
- Viewing Direct-to-Consumer Genetic Test Results for Depression Risk Is Psychologically Well Tolerated: Evidence from a Longitudinal Equivalence Study
Rebecca M. K. Berns, Devika Dhamija, … Noura S. Abul‐Husn·Human Genetics and Genomics AdvancesPeer-reviewed·Dec 8, 2025
- Development and Validation of the Vanderbilt PRS-KS, an Instrument to Quantify Polygenic Risk Score Knowledge
Doug Stubbs, Gillian W. Hooker, … Alexander G. Bick·bioRxiv·Oct 26, 2022
- Return of Results in a Global Sample of Psychiatric Genetics Researchers: Practices, Attitudes, and Knowledge
Gabriel Lázaro‐Muñoz, Laura N. Torgerson, Stacey Pereira·Genetics in MedicinePeer-reviewed·Oct 8, 2020
- Benefits and barriers to implementing precision preventive care: results of a national physician survey
Jason L. Vassy, Benjamin J. Kerman, … Charles A. Brunette·European Journal of Human GeneticsPeer-reviewed·Feb 20, 2023
- Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data
Rachel L. Kember, Alison K. Merikangas, … Maja Bućan·bioRxiv·Nov 29, 2019