RT Journal Article
SR Electronic
T1 Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 829
OP 834
DO 10.1136/jmedgenet-2019-106759
VO 57
IS 12
A1 Alice Garrett
A1 Alison Callaway
A1 Miranda Durkie
A1 Cankut Cubuk
A1 Mary Alikian
A1 George J Burghel
A1 Rachel Robinson
A1 Louise Izatt
A1 Sabrina Talukdar
A1 Lucy Side
A1 Treena Cranston
A1 Sheila Palmer-Smith
A1 Diana Baralle
A1 Ian R Berry
A1 James Drummond
A1 Andrew J Wallace
A1 Gail Norbury
A1 Diana M Eccles
A1 Sian Ellard
A1 Fiona Lalloo
A1 D Gareth Evans
A1 Emma Woodward
A1 Marc Tischkowitz
A1 Helen Hanson
A1 Clare Turnbull
A1 ,
YR 2020
UL http://jmg.bmj.com/content/57/12/829.abstract
AB 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.