The use of Next Generation sequencing in newborn screening
Research type
Research Study
Full title
A feasibility study to assess the utility of Next Generation DNA sequencing as a modality for Newborn Screening by sequencing a small panel of genes based on existing Newborn screening programmes using DNA extracted from Dried Blood spot samples from healthy controls
IRAS ID
159179
Contact name
Ann Dalton
Contact email
Sponsor organisation
Sheffield Children's NHS FT
Research summary
UK newborn babies are currently screened for nine rare disorders using dried blood spots (DBS) taken shortly after birth. The screening tests use chemicals in the DBS to identify babies affected with these disorders. The disorders being tested for are potentially life-threatening but are treatable if identified early. However there are other disorders which are also very serious or life-threatening, for which early treatment is available and would be beneficial but which cannot be tested for using dried blood spots. Many of the disorders are genetic and therefore it is possible to use genetic technologies to test for them. Next generation sequencing (NGS) is a new technology that could be used, if we can get it to work robustly on dried blood spots. The purpose of this project is to establish what is needed technologically and managerially to use NGS to test DBS for disorders that are potentially suitable for NBS. This would lay the groundwork for the introduction of more screening NBS programmes to benefit more children and could also change the way we deliver NBS in the future.
REC name
London - Brent Research Ethics Committee
REC reference
14/LO/1715
Date of REC Opinion
15 Sep 2014
REC opinion
Favourable Opinion