The development and evaluation of Polygenic Risk Score reports: A systematised review of the literature
- Journal Title
- Genetics in Medicine
- Publication Type
- Online publication before print
- 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 analyse 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 APA 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 stigmatising colours to communicate results. CONCLUSION: To support PGS clinical implementation, the development of an evidence based PGS report evaluated by consumers and various healthcare professionals is needed.
- Keywords
- Polygenic risk score; genetic counselling; genetic testing; polygenic risk reports; 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: 2025-05-13 01:32:08