Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: A systematic review

Courtney K Wallingford; Hannah Kovilpillai; Chris Jacobs; Erin Turbitt; Clare A Primiero; Mary-Anne Young; Deanna G Brockman; H Peter Soyer; Aideen M McInerney-Leo; Tatiane Yanes

doi:10.1016/j.gim.2022.09.008

Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: A systematic review

Genet Med. 2023 Jan;25(1):1-11. doi: 10.1016/j.gim.2022.09.008. Epub 2022 Nov 2.

Affiliations

¹ Dermatology Research Centre, The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, Queensland, Australia.
² Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia.
³ Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, New South Wales, Australia.
⁴ Color Health, Burlingame, CA.
⁵ Dermatology Research Centre, The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, Queensland, Australia; Dermatology Department, The Princess Alexandra Hospital, Brisbane, Queensland, Australia.
⁶ Dermatology Research Centre, The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, Queensland, Australia. Electronic address: t.yanes@uq.edu.au.

PMID: 36322150
DOI: 10.1016/j.gim.2022.09.008

Abstract

Purpose: This study aimed to systematically review current models for communicating polygenic scores (PGS) and psycho-behavioral outcomes of receiving PGSs.

Methods: Original research on communicating PGSs and reporting on psycho-behavioral outcomes was included. Search terms were applied to 5 databases and were limited by date (2009-2021).

Results: In total, 28 articles, representing 17 studies in several disease settings were identified. There was limited consistency in PGS communication and evaluation/reporting of outcomes. Most studies (n = 14) presented risk in multiple ways (ie, numerically, verbally, and/or visually). Three studies provided personalized lifestyle advice and additional resources. Only 1 of 17 studies reported using behavior change theory to inform their PGS intervention. A total of 8 studies found no evidence of long-term negative psychosocial effects up to 12 months post result. Of 14 studies reporting on behavior, 9 found at least 1 favorable change after PGS receipt. When stratified by risk, 7 out of 9 studies found high PGS was associated with favorable changes including lifestyle, medication, and screening. Low-risk PGS was not associated with maladaptive behaviors (n = 4).

Conclusion: PGS has the potential to benefit health behavior. High variability among studies emphasizes the need for developing standardized guidelines for communicating PGSs and evaluating psycho-behavioral outcomes. Our findings call for development of best communication practices and evidence-based interventions informed by behavior change theories.

Keywords: Genetic counseling; Genetics; Genomics; Polygenic risk; Polygenic scores.

Publication types

Systematic Review
Review
Research Support, Non-U.S. Gov't

MeSH terms

Communication
Health Behavior*
Humans
Life Style*