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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 in...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691806/
https://www.ncbi.nlm.nih.gov/pubmed/32170000
http://dx.doi.org/10.1136/jmedgenet-2019-106759
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author 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
author_facet 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
author_sort Garrett, Alice
collection PubMed
description 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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spelling pubmed-76918062020-12-09 Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network 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 J Med Genet Cancer Genetics 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. BMJ Publishing Group 2020-12 2020-03-13 /pmc/articles/PMC7691806/ /pubmed/32170000 http://dx.doi.org/10.1136/jmedgenet-2019-106759 Text en © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
spellingShingle Cancer Genetics
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
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
title Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
title_full Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
title_fullStr Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
title_full_unstemmed Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
title_short Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
title_sort cancer variant interpretation group uk (canvig-uk): an exemplar national subspecialty multidisciplinary network
topic Cancer Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691806/
https://www.ncbi.nlm.nih.gov/pubmed/32170000
http://dx.doi.org/10.1136/jmedgenet-2019-106759
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