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dc.contributor.authorMoorthie, Sowmiya
dc.contributor.authorHall, Alison
dc.contributor.authorBabb de Villiers, Chantal
dc.contributor.authorJanus, Joanna
dc.contributor.authorBrigden, Tanya
dc.contributor.authorBlackburn, Laura
dc.contributor.authorKroese, Mark
dc.date.accessioned2022-04-26T12:00:10Z
dc.date.available2022-04-26T12:00:10Z
dc.date.issued2022-05
dc.date.submitted2021-10-26
dc.identifier.issn1741-0541
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/336457
dc.description.abstractAs 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.
dc.languageen
dc.publisherFuture Medicine Ltd
dc.subjectReview
dc.subjectbiomarker
dc.subjectclinical utility
dc.subjectcommon disorders
dc.subjectgenetic test evaluation
dc.subjectpersonalized medicine
dc.subjectpolygenic scores
dc.subjectregulation
dc.subjectrisk prediction
dc.subjectrisk stratification
dc.subjectSNPs
dc.titleHow can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests?
dc.typeArticle
dc.date.updated2022-04-26T12:00:09Z
prism.endingPage270
prism.issueIdentifier3
prism.publicationNamePer Med
prism.startingPage263
prism.volume19
dc.identifier.doi10.17863/CAM.83875
dcterms.dateAccepted2022-02-23
rioxxterms.versionofrecord10.2217/pme-2021-0148
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.contributor.orcidMoorthie, Sowmiya [0000-0002-7790-2630]
dc.contributor.orcidBabb de Villiers, Chantal [0000-0003-1334-1819]
dc.contributor.orcidJanus, Joanna [0000-0002-3145-7156]
dc.identifier.eissn1744-828X
cam.issuedOnline2022-03-15


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