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

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
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, genetics, guidelines, molecular genetics, oncology
0022-2593
829-834
Garrett, Alice
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Callaway, Alison
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Durkie, Miranda
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Cubuk, Cankut
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Alikian, Mary
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Burghel, George J
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Robinson, Rachel
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Izatt, Louise
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Talukdar, Sabrina
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Side, Lucy
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Cranston, Treena
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Palmer-smith, Sheila
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Baralle, Diana
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Berry, Ian R.
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Drummond, James
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Wallace, Andrew J
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Norbury, Gail
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Eccles, Diana M.
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Ellard, Sian
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Lalloo, Fiona
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Evans, D Gareth
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Woodward, Emma
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Tischkowitz, Marc
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Hanson, Helen
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Turnbull, Clare
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Garrett, Alice
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Callaway, Alison
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Durkie, Miranda
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Cubuk, Cankut
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Alikian, Mary
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Burghel, George J
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Robinson, Rachel
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Izatt, Louise
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Talukdar, Sabrina
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Side, Lucy
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Cranston, Treena
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Palmer-smith, Sheila
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Baralle, Diana
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Berry, Ian R.
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Drummond, James
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Wallace, Andrew J
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Norbury, Gail
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Eccles, Diana M.
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Ellard, Sian
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Lalloo, Fiona
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Evans, D Gareth
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Woodward, Emma
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Tischkowitz, Marc
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Hanson, Helen
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Turnbull, Clare
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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 and Turnbull, Clare (2020) Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. Journal of Medical Genetics, 57 (12), 829-834. (doi:10.1136/jmedgenet-2019-106759).

Record type: Article

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.

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More information

Accepted/In Press date: 7 February 2020
e-pub ahead of print date: 13 March 2020
Keywords: clinical genetics, genetics, guidelines, molecular genetics, oncology

Identifiers

Local EPrints ID: 438845
URI: http://eprints.soton.ac.uk/id/eprint/438845
ISSN: 0022-2593
PURE UUID: 7d539cc0-bef4-49ea-a92d-2bfd900a21e2
ORCID for Diana Baralle: ORCID iD orcid.org/0000-0003-3217-4833
ORCID for Diana M. Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 25 Mar 2020 17:31
Last modified: 26 Nov 2021 02:53

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Contributors

Author: Alice Garrett
Author: Alison Callaway
Author: Miranda Durkie
Author: Cankut Cubuk
Author: Mary Alikian
Author: George J Burghel
Author: Rachel Robinson
Author: Louise Izatt
Author: Sabrina Talukdar
Author: Lucy Side
Author: Treena Cranston
Author: Sheila Palmer-smith
Author: Diana Baralle ORCID iD
Author: Ian R. Berry
Author: James Drummond
Author: Andrew J Wallace
Author: Gail Norbury
Author: Diana M. Eccles ORCID iD
Author: Sian Ellard
Author: Fiona Lalloo
Author: D Gareth Evans
Author: Emma Woodward
Author: Marc Tischkowitz
Author: Helen Hanson
Author: Clare Turnbull

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