The development and evaluation of polygenic risk score reports: A systematized review of the literature

Hanley, M; Limb, S; Purvis, R; Saya, S; James, PA; Forrest, LE

Author(s): Hanley, M; Limb, S; Purvis, R; Saya, S; James, PA; Forrest, LE;
Details: Publication Year 2025-04-04,Volume 27,Issue #7,Page 101426
Journal Title: Genetics in Medicine
Publication Type: Review
Abstract: PURPOSE: The return of polygenic risk scores (PGS) is currently being assessed in research settings for clinical utility and validity, and it is anticipated that PGS will soon be implemented in a clinical setting. There are limited guidelines regarding PGS communication and reporting; thus, there is a need to identify and analyze the current research to determine the most acceptable means of presenting PGS results through reports. The aim of this review is to examine the literature regarding the development and evaluation of PGS communication tools, including risk reports, visual aids, and online tools. METHODS: Research studies that evaluated preferences, understanding or interpretation of PGS through a report, visual aid, or tool were included. The search strategy was applied to MEDLINE (via Ovid) and American Psychological Association PsychInfo. RESULTS: Thirteen studies met the inclusion criteria. The presentation of PGS differed across studies, including icon arrays and bell curves for visual presentation and absolute risk, relative risk, and genetic risk score for numerical presentation. Participants' understanding of PGS differed between studies. Studies supported using absolute risk and avoiding stigmatizing colors to communicate results. CONCLUSION: To support PGS clinical implementation, the development of an evidence-based PGS report evaluated by consumers and various health care professionals is needed.
Keywords: Genetic counseling; Genetic testing; Polygenic risk reports; Polygenic risk score; Risk communication
Department(s): Familial Cancer Centre
Publisher's Version: https://doi.org/10.1016/j.gim.2025.101426
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2025-05-13 01:31:52

Last Modified: 2025-06-02 01:58:46