Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients' Perspectives on Influencing Factors and Strategies.

ABSTRACT:

Background

Polygenic scores (PGS) capture a proportion of the genomic liability for cancer in unselected and high-risk cohorts, with meaningful application in improving risk-stratified screening and management. However, there are significant evidence gaps regarding future clinical implementation. Despite being key interest-holders, recipient views are underrepresented. The objective of this study was to explore recipients' views on the clinical implementation of PGS for hereditary cancer risk assessment in Australian cancer genetics clinics.

Methods

Three video-conferenced focus groups were conducted with recipients who had been given their breast and ovarian cancer PGS through the PRiMo trial. Nominal Group Technique was used to enable evaluation of implementation determina

SUBMITTER: Purvis R 

PROVIDER: S-EPMC12559137 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature