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dc.contributor.authorAndoni, T
dc.contributor.authorWiggins, J
dc.contributor.authorRobinson, R
dc.contributor.authorCharlton, R
dc.contributor.authorSandberg, M
dc.contributor.authorEeles, R
dc.date.accessioned2022-04-27T13:22:35Z
dc.date.available2022-04-27T13:22:35Z
dc.date.issued2022-02-21
dc.identifier.citationScientific reports, 2022, 12 (1), pp. 2507 - ?
dc.identifier.issn2045-2322
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/5104
dc.identifier.eissn2045-2322
dc.identifier.eissn2045-2322
dc.identifier.doi10.1038/s41598-022-06376-4
dc.identifier.doi10.1038/s41598-022-06376-4
dc.description.abstractGenetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene cancer panels to a broader population arises. We evaluated how many additional actionable genetic variants are returned by unrestricted panel testing in the private sector compared to those which would be returned by adhering to current NHS eligibility criteria. We reviewed 152 patients referred for multi-gene cancer panels in the private sector between 2014 and 2016. Genetic counselling and disclosure of all results was standard of care provided by the Consultant. Every panel conducted was compared to current eligibility criteria. A germline pathogenic / likely pathogenic variant (P/LP), in a gene relevant to the personal or family history of cancer, was detected in 15 patients (detection rate of 10%). 46.7% of those found to have the P/LP variants (7 of 15), or 4.6% of the entire set (7 of 152), did not fulfil NHS eligibility criteria. 46.7% of P/LP variants in this study would have been missed by national testing guidelines, all of which were actionable. However, patients who do not fulfil eligibility criteria have a higher Variant of Uncertain Significance (VUS) burden. We demonstrated that the current England NHS threshold for genetic testing is missing pathogenic variants which would alter management in 4.6%, nearly 1 in 20 individuals. However, the clinical service burden that would ensue is a detection of VUS of 34%.
dc.formatElectronic
dc.format.extent2507 - ?
dc.languageeng
dc.language.isoeng
dc.publisherNATURE PORTFOLIO
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectHumans
dc.subjectNeoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectIncidence
dc.subjectRisk Assessment
dc.subjectRetrospective Studies
dc.subjectGenetic Counseling
dc.subjectGerm-Line Mutation
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectMiddle Aged
dc.subjectState Medicine
dc.subjectEngland
dc.subjectFemale
dc.subjectMale
dc.subjectYoung Adult
dc.subjectGenetic Testing
dc.subjectBiomarkers, Tumor
dc.titleHalf of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
dc.typeJournal Article
dcterms.dateAccepted2022-01-20
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1038/s41598-022-06376-4
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2022-02-21
dc.relation.isPartOfScientific reports
pubs.issue1
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Oncogenetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Radiotherapy and Imaging/Oncogenetics
pubs.publication-statusPublished
pubs.volume12
pubs.embargo.termsNot known
icr.researchteamOncogenetics
dc.contributor.icrauthorEeles, Rosalind


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