Repository logo

The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

Published version

Repository DOI



Change log


Dannhauser, Faye 
Taylor, Lily 
Tung, Joanna 
Usher-Smith, Juliet  ORCID logo


Background: Polygenic scores (PGS) have been developed for cancer risk-estimation and show potential as tools to prompt earlier referral for high-risk individuals and aid risk-stratification within cancer screening programmes. This review explores the potential for using PGS to identify individuals at risk of the most common cancers seen in primary care. Methods: Two electronic databases were searched up until November 2023 to identify quantitative, qualitative, and mixed methods studies that reported on the acceptability and clinical impact of using PGS to identify individuals at highest risk of breast, prostate, colorectal and lung cancer in primary care. The Mixed Methods Appraisal Tool (MMAT) was used to assess the quality of included studies and a narrative synthesis was used to analyse data. Results: A total of 190 papers were identified, 18 of which were eligible for inclusion. A cancer risk-assessment tool incorporating PGS was acceptable to the general practice population and their healthcare providers but major challenges to implementation were identified, including lack of evidence for PGS in non-European ancestry and a need for healthcare provider education in genomic medicine. A PGS cancer risk-assessment had relatively limited impact on psychosocial outcomes and health behaviours. However, for prostate cancer, potential applications of it’s use in primary care were shown. Conclusions: Cancer risk assessment incorporating PGS in primary care is acceptable to patients and healthcare providers but there is a paucity of research exploring clinical impact. Few studies were identified, and more research is required before clinical implementation of PGS can be recommended.



Cancer, Clinical utility, Polygenic score, Primary care, Risk stratification, Systematic review

Journal Title

Journal of Community Genetics

Conference Name

Journal ISSN


Volume Title


Department of Health (via National Institute for Health Research (NIHR)) (NIHR300861)
The authors did not receive support from any organisation for the submitted work. Juliet A. Usher-Smith is supported by an NIHR Advanced Fellowship (NIHR300861).

Version History

Now showing 1 - 2 of 2
2024-05-23 07:52:24
Published version added
2024-05-10 23:30:34
* Selected version