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 CanVIG-UK (Cancer Variant Interpretation Group 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 ROI. Through CanVIG-UK, we have established national consensus around variant interpretation for cancer susceptibility genes (CSGs) via monthly national teleconferenced MDMs and collaborative data-sharing using a secure online portal. We here describe the activities of CanVIG-UK, include exemplar outputs and feedback from the membership.
Original language | English |
---|---|
Journal | Journal of Medical Genetics |
Publication status | Accepted/In press - 7 Feb 2020 |