Fetal exome sequencing for prenatal diagnosis in the NHS
Research type
Research Study
Full title
Fetal exome sequencing for prenatal diagnosis in the NHS: identifying challenges, benefits and barriers to ensure appropriate implementation
IRAS ID
267073
Contact name
Lyn Chitty
Contact email
Sponsor organisation
UCL GOS Institute of Child Health
Clinicaltrials.gov Identifier
Z6364106/2020/07/98 , UCL data protection registration number
Duration of Study in the UK
1 years, 8 months, 1 days
Research summary
Rapid prenatal exome sequencing (ES), a test examining the 1-2% of a person’s DNA that encodes proteins, will soon be offered through the NHS Genomic Medicine Service to pregnant women whose ultrasound scans suggest the baby may have a genetic condition. This means more parents will be able to receive a prenatal genetic diagnosis that may explain unexpected problems in their baby, providing valuable information to guide decisions about management in pregnancy and the newborn period.
While ES offers the potential for huge benefits to families, there are practical and ethical challenges to address, including; how tests are offered, what results are reported, implications for family members, and protection of genetic privacy. During pregnancy, we must also consider how best to avoid information overload and yet support informed consent during a distressing and time-pressured period. As this test has not been used in clinical practice, research is needed to guide its use and maximise benefits to patients and the NHS.
This research will study how the new testing is provided across our region (North, East and West London and the surrounding area) as it is implemented, to identify what works well and key areas for improvement.
The study will map out the care pathway followed by families offered this test, through surveys of health professionals, observing clinics and team meetings, examining the process for laboratory analysis, and looking at the results and outcomes of testing. The views and experiences of parents offered rapid ES in pregnancy and relevant health professionals will be gathered through interviews, to better understand their needs and preferences.
Study findings will help with development of guidelines for a better prenatal diagnosis service, delivering high quality results and offering the right support to parents throughout, as well as identifying areas for further research.REC name
London - Bromley Research Ethics Committee
REC reference
20/LO/0987
Date of REC Opinion
30 Sep 2020
REC opinion
Further Information Favourable Opinion