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.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Garrett A,Callaway A,Durkie M,Cubuk C,Alikian M,Burghel GJ,Robinson R,Izatt L,Talukdar S,Side L,Cranston T,Palmer-Smith S,Baralle D,Berry IR,Drummond J,Wallace AJ,Norbury G,Eccles DM,Ellard S,Lalloo F,Evans DG,Wdoi
10.1136/jmedgenet-2019-106759subject
Has Abstractpub_date
2020-12-01 00:00:00pages
829-834issue
12eissn
0022-2593issn
1468-6244pii
jmedgenet-2019-106759journal_volume
57pub_type
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journal_title:Journal of medical genetics
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pub_type: 杂志文章,评审
doi:10.1136/jmg.25.5.340
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.2.129
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journal_title:Journal of medical genetics
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doi:10.1136/jmg.2007.049981
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.30.11.942
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2018-105463
更新日期:2019-06-01 00:00:00
abstract::Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the fam...
journal_title:Journal of medical genetics
pub_type: 杂志文章
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.9.726
更新日期:1996-09-01 00:00:00