Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. Issue 12 (13th March 2020)

• Record Type: Journal Article
• Authors: Garrett, Alice; Callaway, Alison; Durkie, Miranda; Cubuk, Cankut; Alikian, Mary; Burghel, George J; Robinson, Rachel; Izatt, Louise; Talukdar, Sabrina; Side, Lucy; Cranston, Treena; Palmer-Smith, Sheila; Baralle, Diana; Berry, Ian R; Drummond, James; Wallace, Andrew J; Norbury, Gail; Eccles, Diana M; Ellard, Sian; Lalloo, Fiona; Evans, D Gareth; Woodward, Emma; Tischkowitz, Marc; Hanson, Helen; Turnbull, Clare
• Other Names: author non-byline.; Abbs Stephen author non-byline.; Tarpey Patrick author non-byline.; Bruty Jonathan author non-byline.; Drummond James author non-byline.; Whitworth James author non-byline.; Bowden Anne Ramsay author non-byline.; Tischowitz Marc author non-byline.; Maher Eamonn author non-byline.; Heggarty Shirley author non-byline.; Hegarty Sean author non-byline.; Martin Rosalind author non-byline.; Logan Peter author non-byline.; Byrne Claire author non-byline.; Wallis Yvonne author non-byline.; Butler Samantha author non-byline.; Hart Rachel author non-byline.; Hughes Lowri author non-byline.; Reay Kim author non-byline.; Ong Kai-Ren author non-byline.; Mason Joanne author non-byline.; Tomlinson Ian author non-byline.; Frayling Ian author non-byline.; Palmer-Smith Sheila author non-byline.; Sampson Julian author non-byline.; Murray Alex author non-byline.; Ahmed Munaza author non-byline.; Kiely Louise author non-byline.; Busby Louise author non-byline.; Brooks Claire author non-byline.; Taylor-Beadling Alison author non-byline.; Kumar Ajith author non-byline.; Ryten Mina author non-byline.; Izatt Louise author non-byline.; Kulkarni Anjana author non-byline.; Shaw Adam author non-byline.; Campbell Joanna author non-byline.; Thomas Huw author non-byline.; Chubb Daniel author non-byline.; Alikian Mary author non-byline.; Cubuk Cankut author non-byline.; Robinson Rachel author non-byline.; Mullaney Brendan author non-byline.; Adlard Julian author non-byline.; Greenhalgh Karen-Lynn author non-byline.; Howard Emma author non-byline.; Clowes Virginia author non-byline.; Brady Angela author non-byline.; Burghel George author non-byline.; Woodward Emma author non-byline.; Smith Philip T author non-byline.; Harris Jade L author non-byline.; Bowers Naomi L author non-byline.; Hartley Claire L author non-byline.; Wright Ronnie author non-byline.; Evans Gareth author non-byline.; Lalloo Fiona author non-byline.; Wallace Andrew author non-byline.; Burn John author non-byline.; Tellez James author non-byline.; Mackenzie Sarah author non-byline.; Powell Helen author non-byline.; Tennant Stephen author non-byline.; Tolmie Joanna author non-byline.; O'Sullivan Dawn author non-byline.; Davidson Rosemarie author non-byline.; Grant Jonathan author non-byline.; Stobo Daniel author non-byline.; Ansari Aisha author non-byline.; Murray Jennie author non-byline.; Moore David author non-byline.; Tredwell Rachael author non-byline.; Field Joanne author non-byline.; Bradshaw Kirsty author non-byline.; Harrison Rachel author non-byline.; Walker Logan author non-byline.; Mcdevitt Trudi author non-byline.; Duff Marie author non-byline.; Clabby Catherine author non-byline.; Cranston Treena author non-byline.; Bedenham Tina author non-byline.; Petrides Evgenia author non-byline.; Hawkes Lara author non-byline.; McRonald Fiona author non-byline.; Ellard Sian author non-byline.; Cleaver Ruth author non-byline.; Brewer Carole author non-byline.; Woodwaer Nick author non-byline.; Daniels Stacey author non-byline.; Callaway Alison author non-byline.; Tobal Khalid author non-byline.; Albaba Shadi author non-byline.; Dell Sarah author non-byline.; Nyanhete Rodney author non-byline.; Kirk Richard author non-byline.; Watson Mark author non-byline.; Durkie Miranda author non-byline.; Snape Katie author non-byline.; Cook Jackie author non-byline.; Clouston Hazel author non-byline.; Hogg Anne-Cecile author non-byline.; Talukdar Sabrina author non-byline.; Hawkes Lorraine author non-byline.; Cobbold Laura author non-byline.; Tatton-Brown Kate author non-byline.; Hanson Helen author non-byline.; Crosby Charlene author non-byline.; Hadonou Ayaovi author non-byline.; Kemp Zoe author non-byline.; Mcveigh Terri author non-byline.; Turnbull Clare author non-byline.; Garrett Alice author non-byline.; O'Brien Cathal author non-byline.; Yarram Laura author non-byline.; Smith Kenneth author non-byline.; Williamson Helen author non-byline.; Donaldson Alan author non-byline.; Barwell Julian author non-byline.; Bradford Matilda author non-byline.; Side Lucy author non-byline.; Eccles Diana author non-byline.; Baralle Diana author non-byline.; Lucassen Anneke author non-byline.; Tripathi Vishakha author non-byline.; Del Rey Jimenez Juan Carlos author non-byline.;
• Is Part Of: Journal of medical genetics. Volume 57:Issue 12(2020)
• Page Start: 829
• Page End: 834
• Publication Date: 2020-03-13
• Subjects: genetics -- clinical genetics -- guidelines -- molecular genetics -- oncology; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2019-106759
• Languages: English
• ISSNs: 1468-6244

Abstract

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.