Scottish Participation in Genomics England 100,000 Genomes Project
Research type
Research Study
Full title
Investigation of whole genome sequencing with collaborative analysis as a method for improving patient diagnosis of Rare Diseases in the Scottish NHS
IRAS ID
212497
Contact name
Louise King
Contact email
Sponsor organisation
University of Aberdeen
Duration of Study in the UK
6 years, 7 months, 31 days
Research summary
This study will investigate the extent to which Whole Genome Sequencing (WGS) with collaborative analysis could improve genetic diagnosis and clinical follow-up for rare disease patients in Scotland. It will be run as part of the Scottish Genomes Partnership (SGP) research programme and is a collaboration between academic researchers, NHS Scotland Clinical Genetics teams and the 100,000 Genomes project run by Genomics England Ltd (GeL), a company wholly owned by the Department of Health. GeL aims to improve human health, by expanding understanding of the role of genetics in human pathology. Alignment of SGP with the 100,000 Genomes Project is a policy aim of the Scottish Government (SG) Health and Social Care Directorates, and is funded by the SG Chief Scientist Office and MRC. The 100,000 Genomes project has broader aims and objectives, and a different sample pathway, hence, following extensive discussion with Dr Alex Bailey (South East Scotland Ethics Committee) and HRA, we are making a separate ethics application.
NHS Scotland Clinical Genetics centres in Edinburgh, Glasgow, Dundee and Aberdeen will identify and consent participants, provide locally extracted DNA samples and phenotype data from consented participants.
WGS will be performed at the HiSeqX centres at Edinburgh and Glasgow Universities. De-identified genome and clinical phenotype data will be transferred securely to GeL. The details of this data transfer process have already been scrutinised and approved by the Public Benefit and Privacy Panel (1516-0377/Evans).
GeL will provide services to NHS Scotland: analysis and annotation of rare disease genomics sequences; clinical interpretation; provision of reports on findings to Scottish Genetics Consortium clinicians and laboratories; and making available results to authorised NHS Scotland Genetics Consortium laboratory and clinical users, for validation using conventional diagnostics, and reporting to clinical geneticists who will use the results to inform patient care.
REC name
Scotland A: Adults with Incapacity only
REC reference
17/SS/0113
Date of REC Opinion
13 Dec 2016
REC opinion
Favourable Opinion