How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests?
Authors
Hall, Alison
Brigden, Tanya
Blackburn, Laura
Kroese, Mark
Publication Date
2022-05Journal Title
Per Med
ISSN
1741-0541
Publisher
Future Medicine Ltd
Volume
19
Issue
3
Pages
263-270
Language
en
Type
Article
This Version
VoR
Metadata
Show full item recordCitation
Moorthie, S., Hall, A., Babb de Villiers, C., Janus, J., Brigden, T., Blackburn, L., & Kroese, M. (2022). How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests?. Per Med, 19 (3), 263-270. https://doi.org/10.2217/pme-2021-0148
Abstract
As common low penetrance variants associated with diseases are uncovered, attempts continue to be made to harness this knowledge for improving healthcare. Polygenic scores have been developed as the mechanism by which knowledge of common variants can be used to investigate genetic contributions to disease risk. They serve as a biomarker to provide an estimate of the genetic liability for a particular disease. Discussion continues as to whether polygenic scores are a useful biomarker and their readiness for incorporation into clinical and public health practice. In this paper, we investigate the key challenges that need to be addressed, in the description and assessment of the clinical utility of polygenic score-based tests for use in clinical and public health practice.
Keywords
Review, biomarker, clinical utility, common disorders, genetic test evaluation, personalized medicine, polygenic scores, regulation, risk prediction, risk stratification, SNPs
Identifiers
External DOI: https://doi.org/10.2217/pme-2021-0148
This record's URL: https://www.repository.cam.ac.uk/handle/1810/336457
Rights
Licence:
http://creativecommons.org/licenses/by-nc-nd/4.0/
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