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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Dr
Zofia
Miedzybrodzka
zosia@abdn.ac.uk
Lynne
Mennie
sgp-grd@abdn.ac.uk
Dr
Zofia
Miedzybrodzka
sgp-grd@abdn.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
General symptoms and signs
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
The 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 Genomes 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 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.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Genetic epidemiology;
You can take part if:
You may not be able to take part if:
- No evidence of an inherited phenotype or rare disease - Prior identification of a known causative gene variant in an affected family member - The absence of valid consent or unwillingness to give consent or participate in all aspects of the project (this excludes opt-out options for feedback to participants) - Inadequate phenotyping or failure to provide sequencing data to GeL - Where an adult patient has been deemed by their clinical team not to have capacity to give consent
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Lynne
Mennie
sgp-grd@abdn.ac.uk
Dr
Zofia
Miedzybrodzka
zosia@abdn.ac.uk
Dr
Zofia
Miedzybrodzka
sgp-grd@abdn.ac.uk
More information about this study, what is involved and how to take part can be found on the study website.
The study is sponsored by University of Aberdeen and funded by Medical Research Council (MRC); Scottish Government Chief Scientist Office (CSO); .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 34315
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
