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external supervisors

Padraig Dixon, Nuffield Department of Primary Care Health Sciences

Anneke Lucassen, Nuffield Department of Medicine


Newborn screening in many countries is based on a blood spot (heel prick) test, which uses chemical analysis to identify markers for rare but potentially serious congenital and non-genetic conditions. Whole genomic sequencing (WGS) technology analyses the entire DNA sequence and so holds the potential to identify many genetically determined conditions. Genomics England is piloting the use of WGS in newborm screening to identify potentially hundreds of conditions in up to 100,000 newborns (current newborn screening in the UK tests for 9 conditions). Scaling up the number of conditions that newborns are screened for, could detect, and treat, and improve quality of life, thereby saving lives and reduce healthcare costs overall. This D.Phil. project aims to evaluate the short and long term costs and effects (such as earlier treatment) 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.


This project will allow the student to develop skills in genomics and economic evaluation as well as literature reviews and modelling. 


Training will be offered on relevant analytical methods and to facilitate collecting and analysing cost and outcomes data. 


The ideal candidate would have experience of economic analysis, epidemiology, statistics or public health.