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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
- Source :
- Journal of Medical Genetics, Callaway, A, Durkie, M, Cubuk, C, Alikian, M, Burghel, GJ, Izatt, L, Talukdar, S, Side, L, Cranston, T, Palmer-Smith, S, Baralle, D & CanVIG-UK 2020, ' Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2019-106759
- Publication Year :
- 2020
- Publisher :
- BMJ Publishing Group, 2020.
-
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.
- Subjects :
- 0301 basic medicine
Male
medicine.medical_specialty
Service (systems architecture)
Subspecialty
03 medical and health sciences
0302 clinical medicine
Multidisciplinary approach
Neoplasms
medicine
Cancer Genetics
Humans
genetics
guidelines
Genetic Testing
Genetics (clinical)
business.industry
Interpretation (philosophy)
Genetic Variation
High-Throughput Nucleotide Sequencing
Geneticist
Genomics
United Kingdom
Data sharing
030104 developmental biology
030220 oncology & carcinogenesis
Family medicine
molecular genetics
oncology
Medical genetics
Female
Personalized medicine
business
Psychology
Ireland
clinical genetics
Subjects
Details
- Language :
- English
- ISSN :
- 14686244 and 00222593
- Volume :
- 57
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....6f4cfe78b9fcd7b2e502b1e11ebf00a9
- Full Text :
- https://doi.org/10.1136/jmedgenet-2019-106759