Improving genomic sequencing
Research type
Research Study
Full title
Improving the delivery of genomic medicine sequencing services in the NHS
IRAS ID
335584
Contact name
Natalie Chandler
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS Foundation Trust
Duration of Study in the UK
1 years, 7 months, 31 days
Research summary
Whole genome sequencing (WGS) is a relatively new test that can be offered to patients in the NHS when a genetic condition is suspected. WGS allows scientists to take a close look at the genome. The genome is the body’s ‘instruction manual’. This manual is made up of a series of chemical letters called DNA. Sequencing tests like WGS, ‘read’ these letters to look for the changes in our DNA that cause genetic conditions. Current WGS tests have limits and don’t always find the cause of genetic conditions. In this study we will try out several new approaches to WGS tests. Parents of babies with a suspected genetic condition who didn’t get a diagnosis from WGS will be invited to take part in our study. The results of the new approaches to WGS tests will be shared with the parents. If we find that the new approaches to WGS tests work well, we will work towards offering these new WGS tests as part of routine practice in the NHS.
REC name
East Midlands - Nottingham 1 Research Ethics Committee
REC reference
24/EM/0181
Date of REC Opinion
25 Sep 2024
REC opinion
Further Information Favourable Opinion