Molecular Genetic Analysis and Clinical Studies (MGAC)
Research type
Research Study
Full title
Molecular Genetic Analysis and Clinical Studies of Individuals and Families at Risk of Genetic Disease (MGAC).
IRAS ID
138767
Contact name
E Ormondroyd
Contact email
Sponsor organisation
University of Oxford
Duration of Study in the UK
3 years, 4 months, 7 days
Research summary
This study has two main aims. By using whole genome and whole exome sequencing techniques not currently available in clinical practice, it seeks to
1. look for the genetic causes of inherited disease in particular individuals and families
2. develop an evidence base for the effectiveness and cost of WGS/WES analyses for diagnosis, compared to current clinical techniques.
The study is thus a series of individual studies of patients and their familial disease, each of which has in common the use of new sequencing and analysis technology.The study will also use the information gained by genetic testing (genotypic), together with information about the how the health condition affects individuals (phenotypic) to add to general knowledge about various conditions and their genetic bases.
All of this information is valuable and hard-won: we will aim to make the most of
it by including it in research databases for others to use, if participants agree to this.Finally, very little is known about individuals' own awareness of genetically-based disease and research, or about how people decide whether to take part and whether they want to be informed about any other (incidental) findings that may be relevant for their health. We will set up a sub study to explore these issues with participants.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
13/WM/0466
Date of REC Opinion
5 Dec 2013
REC opinion
Favourable Opinion