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.
- clinical genetics
- molecular genetics
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AG, AC and MD contributed equally.
Collaborators CanVIG-UK: Stephen Abbs, Patrick Tarpey, Jonathan Bruty, James Drummond, James Whitworth, Anne Ramsay Bowden, Marc Tischowitz, Eamonn Maher (Cambridge University Hospitals NHS Foundation Trust); Shirley Heggarty, Sean Hegarty, Rosalind Martin, Peter Logan, Claire Byrne (Belfast Health and Social Care Trust); Yvonne Wallis, Samantha Butler, Rachel Hart, Lowri Hughes, Kim Reay, Kai-Ren Ong, Joanne Mason, Ian Tomlinson (Birmingham Women's and Children's NHS Foundation Trust); Ian Frayling, Sheila Palmer-Smith, Julian Sampson, Alex Murray (Cardiff and Vale University Health Board); Munaza Ahmed, Louise Kiely, Louise Busby, Claire Brooks, Alison Taylor-Beadling, Ajith Kumar (Great Ormond Street Hospital for Children NHS Foundation Trust); Vishakha Tripathi, Mina Ryten, Louise Izatt, Anjana Kulkarni, Adam Shaw, Joanna Campbell (Guy's and St Thomas' NHS Foundation Trust); Huw Thomas (St. Mark's Hospital, Northwick Park Hospital, Harrow); Daniel Chubb, Mary Alikian, Cankut Cubuk (Institute of Cancer Research); Rachel Robinson, Brendan Mullaney, Julian Adlard (Leeds Teaching Hospitals NHS Trust); Karen-Lynn Greenhalgh, Emma Howard (Liverpool Women’s NHS Foundation Trust); Virginia Clowes, Angela Brady (London North West University Healthcare NHS Trust); George Burghel, Emma Woodward, Philip T Smith, Jade L Harris, Naomi L Bowers, Claire L Hartley, Ronnie Wright, Gareth Evans, Fiona Lalloo, Andrew Wallace (Manchester University NHS Foundation Trust); John Burn, James Tellez, Sarah Mackenzie, Helen Powell (Newcastle Upon Tyne Hospitals NHS Foundation Trust); Stephen Tennant, Joanna Tolmie, Dawn O'Sullivan (NHS Grampian, Aberdeen); Rosemarie Davidson, Jonathan Grant, Daniel Stobo, Aisha Ansari (NHS Greater Glasgow & Clyde); Jennie Murray, David Moore (NHS Lothian, Edinburgh); Rachael Tredwell, Joanne Field, Kirsty Bradshaw, Rachel Harrison (Nottingham University Hospital NHS Trust); Logan Walker (University of Otago, Christchurch, New Zealand); Trudi Mcdevitt, Marie Duff, Catherine Clabby (Our Lady's Children's Hospital, Crumlin, Dublin); Treena Cranston, Tina Bedenham, Evgenia Petrides, Lara Hawkes (Oxford University Hospitals NHS Foundation Trust); Fiona McRonald (Public Health England); Sian Ellard, Ruth Cleaver, Carole Brewer (Royal Devon And Exeter NHS Foundation Trust); Nick Woodwaer (Royal Free London NHS Foundation Trust); Stacey Daniels, Alison Callaway (Salisbury NHS Foundation Trust); Khalid Tobal, Shadi Albaba, Sarah Dell, Rodney Nyanhete, Richard Kirk, Mark Watson, Miranda Durkie, Jackie Cook, Hazel Clouston, Anne-Cecile Hogg (Sheffield Children's NHS Foundation Trust); Sabrina Talukdar, Lorraine Hawkes, Laura Cobbold, Kate Tatton-Brown, Helen Hanson, Katie Snape, Charlene Crosby, Ayaovi Hadonou Juan Carlos Del Rey Jimenez(St George's University Hospitals NHS Foundation Trust); Zoe Kemp, Terri Mcveigh, Clare Turnbull, Alice Garrett (The Royal Marsden NHS Foundation Trust); Cathal O'Brien (Trinity College Dublin, The University Of Dublin, Ireland); Laura Yarram, Kenneth Smith, Helen Williamson, Alan Donaldson (University Hospitals Bristol NHS Foundation Trust); Julian Barwell (University Hospitals of Leicester NHS Trust); Matilda Bradford (University Hospitals Plymouth NHS Trust); Lucy Side, Diana Eccles, Diana Baralle, Anneke Lucassen (University Hospital Southampton NHS Foundation Trust).
Contributors The manuscript was drafted by CT, AG, AC and MD. All other authors contributed to the final manuscript.
Funding This work is supported by the CRUK Catalyst Award CanGene-CanVar (C61296/A27223). ERW and DGE are supported by the Manchester National Institute for Health Research Biomedical Research Centre (IS-BRC-1215- 20007).
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
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