Defining next steps in the clinical implementation of polygenic scores: A landscape analysis of professional groups’ perspectives

• Published in: Genetics in medicine Vol. 27; no. 6; p. 101414
• Main Authors: Purvis, Rebecca, Forrest, Laura E., Young, Mary-Anne, Limb, Sharne, James, Paul, Taylor, Natalie
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2025
• Subjects: Clinical health care delivery; Genetic Testing - methods; Humans; Implementation determinants; Implementation strategies; Multifactorial Inheritance - genetics; Polygenic risk scores; Polygenic risk scores; Clinical health care delivery; Implementation strategies; Implementation determinants
• ISSN: 1098-3600; 1530-0366; 1530-0366
• DOI: 10.1016/j.gim.2025.101414

Professional perspectives on polygenic scores (PGS) have surged in-line with significant research investment. It is unclear whether these perspectives are leading the health care sector toward a comprehensive implementation approach. This scoping review addresses this knowledge gap, analyzing available publications for concurring and discordant perspectives. Methodology followed the Arksey and O’Malley framework. Six databases were systematically searched alongside screening of professional websites. Descriptive and deductive content analyses were completed using the Consolidated Framework for Implementation Research and the Expert Recommendations for Implementing Change compilation. A total of 28 perspectives were analyzed. Implementation was supportable if evidentiary thresholds for clinical utility could be met, with exceptions being in vitro fertilization and prenatal settings. Evidence base and relative advantage of PGS were the strongest determinants of implementation success, with resourcing also being emphasized. Key strategies included ongoing research, developing education materials, and facilitating relay of information. Attention was not paid to leadership nor to stakeholder interrelationships. There was no recommended framework to facilitate the clinical implementation of PGS. The steps toward executing implementation remain vague. Commonalities in perspectives suggest value in a transferable approach. If PGS are to be successful, policy makers and leaders must consider effective resource allocation by addressing priority barriers and utilizing implementation methodologies. Continuing efforts to establish PGS clinical utility and value, guidelines and policies, and educational materials are needed.