Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review

Padraig C Dixon*, Edna Keeney, Jenny C. Taylor, Sarah Wordsworth, Richard M Martin

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

23 Citations (Scopus)
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Abstract

Purpose
Polygenic risk influences susceptibility to cancer. We assessed whether polygenic risk scores could be used in conjunction with other predictors of future disease status in cost-effective risk-stratified screening for cancer.

Methods
We undertook a systematic review of papers that evaluated the cost-effectiveness of screening interventions informed by polygenic risk scores compared with more conventional screening modalities. We included papers reporting cost-effectiveness outcomes with no restriction on type of cancer or form of polygenic risk modeled. We evaluated studies using the Quality of Health Economic Studies checklist.

Results
A total of 10 studies were included in the review, which investigated 3 cancers: prostate (n = 5), colorectal (n = 3), and breast (n = 2). Of the 10 papers, 9 scored highly (score >75 on a 0-100 scale) when assessed using the quality checklist. Of the 10 studies, 8 concluded that polygenic risk-informed cancer screening was likely to be more cost-effective than alternatives.

Conclusion
Despite the positive conclusions of the included studies, it is unclear if polygenic risk stratification will contribute to cost-effective cancer screening given the absence of robust evidence on the costs of polygenic risk stratification, the effects of differential ancestry, potential downstream economic sequalae, and how large volumes of polygenic risk data would be collected and used.
Original languageEnglish
Pages (from-to)1604-1617
Number of pages14
JournalGenetics in Medicine
Volume24
Issue number8
Early online date16 May 2022
DOIs
Publication statusPublished - 5 Aug 2022

Bibliographical note

Funding Information:
E.K. reports personal fees from Novartis Pharma AG, Roche, Pfizer Inc, and Bristol-Myers Squibb outside the submitted work. R.M.M. has received other funding from Cancer Research UK to evaluate the long-term effectiveness and cost-effectiveness of population-based screening and treatment for prostate cancer: the CAP (Cluster randomised trial of PSA testing for prostate cancer) and ProtecT randomized controlled trials. He has also received funding from National Institute for Health Research Bristol Biomedical Research Centre at University Hospitals Bristol and Weston NHS Foundation Trust and the University of Bristol outside the submitted work. All other authors declare no conflicts of interest.

Funding Information:
The views expressed are those of the authors and not necessarily those of the National Health Service (NHS), the National Institute for Health and Care Research or the Department of Health and Social Care, or the Wellcome Trust. P.D. E.K. and R.M.M. received support from a Cancer Research UK, United Kingdom (C18281/A29019) program grant (the Integrative Cancer Epidemiology Programme). P.D. and R.M. are members of the MRC Integrative Epidemiology Unit at the University of Bristol, which is supported by the Medical Research Council and the University of Bristol (MC_UU_12013/1, MC_UU_12013/9). S.W. and J.C.T. receive funding from the NIHR Oxford Biomedical Research Centre. Conceptualization: P.D.; Data Curation: P.D. E.K.; Analysis: P.D. E.K.; Funding Acquisition: R.M.M.; Investigation: P.D. E.K. J.C.T. S.W. R.M.M.; Project Administration: P.D. R.M.M.; Writing-original draft: P.D.; Writing-review and editing: P.D. E.K. J.C.T. S.W. R.M.M.

Funding Information:
The views expressed are those of the authors and not necessarily those of the National Health Service (NHS), the National Institute for Health and Care Research or the Department of Health and Social Care, or the Wellcome Trust. P.D., E.K., and R.M.M. received support from a Cancer Research UK, United Kingdom ( C18281 / A29019 ) program grant (the Integrative Cancer Epidemiology Programme). P.D. and R.M. are members of the MRC Integrative Epidemiology Unit at the University of Bristol, which is supported by the Medical Research Council and the University of Bristol (MC_UU_12013/1, MC_UU_12013/9). S.W. and J.C.T. receive funding from the NIHR Oxford Biomedical Research Centre .

Publisher Copyright:
© 2022 The Authors

Research Groups and Themes

  • ICEP

Keywords

  • Cancer
  • Cost-effectiveness
  • Screening
  • Systematic review

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