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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

Authors :
Andrew J Wallace
Diana Eccles
Lucy Side
Diana Baralle
Gail Norbury
Marc Tischkowitz
Helen Hanson
Rachel Robinson
D. Gareth Evans
George J Burghel
Cankut Çubuk
Alice Garrett
Treena Cranston
Sabrina Talukdar
Sheila Palmer-Smith
Emma R. Woodward
Alison Callaway
Fiona Lalloo
James Drummond
Ian R. Berry
Sian Ellard
Louise Izatt
Miranda Durkie
Clare Turnbull
Mary Alikian
Garrett, Alice [0000-0001-8942-283X]
Burghel, George J [0000-0001-9360-8194]
Berry, Ian R [0000-0002-9710-4724]
Eccles, Diana M [0000-0002-9935-3169]
Evans, D Gareth [0000-0002-8482-5784]
Turnbull, Clare [0000-0002-1734-5772]
Apollo - University of Cambridge Repository
Source :
Journal of Medical Genetics, Callaway, A, Durkie, M, Cubuk, C, Alikian, M, Burghel, GJ, Izatt, L, Talukdar, S, Side, L, Cranston, T, Palmer-Smith, S, Baralle, D & CanVIG-UK 2020, ' Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2019-106759
Publication Year :
2020
Publisher :
BMJ Publishing Group, 2020.

Abstract

Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical sequencing has increased dramatically; and the range of clinical professionals involved in the process has broadened. There is general acceptance that our early dichotomous paradigms of variants being pathogenic–high risk and benign–no risk are overly simplistic. There is increasing recognition that the clinical interpretation of genomic data requires significant expertise in disease–gene-variant associations specific to each disease area. Inaccurate interpretation can lead to clinical mismanagement, inconsistent information within families and misdirection of resources. It is for this reason that ‘national subspecialist multidisciplinary meetings’ (MDMs) for genomic interpretation have been articulated as key for the new NHS Genomic Medicine Service, of which Cancer Variant Interpretation Group UK (CanVIG-UK) is an early exemplar. CanVIG-UK was established in 2017 and now has >100 UK members, including at least one clinical diagnostic scientist and one clinical cancer geneticist from each of the 25 regional molecular genetics laboratories of the UK and Ireland. Through CanVIG-UK, we have established national consensus around variant interpretation for cancer susceptibility genes via monthly national teleconferenced MDMs and collaborative data sharing using a secure online portal. We describe here the activities of CanVIG-UK, including exemplar outputs and feedback from the membership.

Details

Language :
English
ISSN :
14686244 and 00222593
Volume :
57
Issue :
12
Database :
OpenAIRE
Journal :
Journal of Medical Genetics
Accession number :
edsair.doi.dedup.....6f4cfe78b9fcd7b2e502b1e11ebf00a9
Full Text :
https://doi.org/10.1136/jmedgenet-2019-106759