Assessing the health economic implications of using whole genome sequencing in newborn screening programmes
2025/58
external supervisors
Dr Padraig Dixon, Nuffield Department of Primary Care Health Sciences
Professor Annekke Lucassen, Nuffield Department of Medicine
background
Newborn screening in many countries is based on a blood spot (heel prick) test, using chemical analysis to identify markers rare but potentially serious congenital, genetically-determined conditions. Whole genomic sequencing (WGS) technology analyses the whole genomic DNA sequence of a cell at once and provides a complete and detailed description of the genome. Genomics England is planning to use WGS in newborn screening to identify over 600 conditions in 100,000 newborns. Scaling up the number of conditions that newborns are screened for, detected, and treated could maximise quality of life, save more lives and reduce healthcare costs compared to current screening. This D.Phil. project aims to evaluate the short and long term costs and effects of using WGS in the UK newborn screening programme compared to the current screening. In particular assessing the:
- impact on primary and secondary healthcare resource use;
- changes to health-related outcomes including: morbidity, mortality and quality of life and non-health health outcomes.
- uptake of newborn screening If WGS is used
- effect on equality of access to further tests and treatments following WGS.
RESEARCH EXPERIENCE, RESEARCH METHODS AND TRAINING
This project will allow the student to develop skills in genomics and economic evaluation as well as literature reviews and modelling.
FIELD WORK, SECONDMENTS, INDUSTRY PLACEMENTS AND TRAINING
Training will be offered on relevant analytical methods and to facilitate collecting and analysing cost and outcomes data.
PROSPECTIVE STUDENT
The ideal candidate would have experience of economic analysis, epidemiology, statistics or public health.