dc.contributor.author | Andoni, T | |
dc.contributor.author | Wiggins, J | |
dc.contributor.author | Robinson, R | |
dc.contributor.author | Charlton, R | |
dc.contributor.author | Sandberg, M | |
dc.contributor.author | Eeles, R | |
dc.date.accessioned | 2022-04-27T13:22:35Z | |
dc.date.available | 2022-04-27T13:22:35Z | |
dc.date.issued | 2022-02-21 | |
dc.identifier.citation | Scientific reports, 2022, 12 (1), pp. 2507 - ? | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/5104 | |
dc.identifier.eissn | 2045-2322 | |
dc.identifier.eissn | 2045-2322 | |
dc.identifier.doi | 10.1038/s41598-022-06376-4 | |
dc.identifier.doi | 10.1038/s41598-022-06376-4 | |
dc.description.abstract | Genetic 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.format | Electronic | |
dc.format.extent | 2507 - ? | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | NATURE PORTFOLIO | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.subject | Humans | |
dc.subject | Neoplasms | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Incidence | |
dc.subject | Risk Assessment | |
dc.subject | Retrospective Studies | |
dc.subject | Genetic Counseling | |
dc.subject | Germ-Line Mutation | |
dc.subject | Adolescent | |
dc.subject | Adult | |
dc.subject | Aged | |
dc.subject | Aged, 80 and over | |
dc.subject | Middle Aged | |
dc.subject | State Medicine | |
dc.subject | England | |
dc.subject | Female | |
dc.subject | Male | |
dc.subject | Young Adult | |
dc.subject | Genetic Testing | |
dc.subject | Biomarkers, Tumor | |
dc.title | Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2022-01-20 | |
rioxxterms.version | VoR | |
rioxxterms.versionofrecord | 10.1038/s41598-022-06376-4 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2022-02-21 | |
dc.relation.isPartOf | Scientific reports | |
pubs.issue | 1 | |
pubs.notes | Not 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-status | Published | |
pubs.volume | 12 | |
pubs.embargo.terms | Not known | |
icr.researchteam | Oncogenetics | |
dc.contributor.icrauthor | Eeles, Rosalind | |