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Updated: May 15, 2025

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

Mia Hanley1, Sharne Limb2, Rebecca Purvis2

  • 1Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC, Australia; Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|April 8, 2025
PubMed

Insights

Polygenic risk scores (PGS) are nearing clinical use, but clear reporting guidelines are lacking. Research suggests using absolute risk and avoiding stigmatizing colors for effective communication of genetic risk scores.

Area of Science:

  • Genetics
  • Bioinformatics
  • Clinical Medicine

Background:

  • Polygenic risk scores (PGS) are increasingly evaluated for clinical utility.
  • Anticipated integration of PGS into clinical practice necessitates clear reporting guidelines.

Purpose of the Study:

  • To review and analyze existing literature on the development and evaluation of tools for communicating PGS results.
  • To identify best practices for presenting PGS in clinical reports, visual aids, and online platforms.

Main Methods:

  • Systematic review of research studies evaluating the understanding and interpretation of PGS.
  • Inclusion of studies assessing reports, visual aids, and online tools for PGS communication.
  • Searches conducted in MEDLINE and APA PsychInfo databases.

Main Results:

  • Thirteen studies met the inclusion criteria, revealing diverse methods for presenting PGS.
  • Visual presentations included icon arrays and bell curves; numerical presentations used absolute risk, relative risk, and genetic risk scores.
  • Participant understanding varied; studies favored absolute risk communication and recommended avoiding stigmatizing colors.

Conclusions:

  • An evidence-based approach to PGS reporting is crucial for successful clinical implementation.
  • Development and evaluation of PGS reports involving consumers and healthcare professionals are needed.
Abstract

Keywords:
Genetic counselingGenetic testingPolygenic risk reportsPolygenic risk scoreRisk communication

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