Overcoming challenges to develop technology for child health.

Millions of children and young people (CYP) in the UK are affected by chronic or rare health conditions. Rapid advances in science and technology have resulted in CYP with chronic and rare conditions now surviving well into adulthood. New technologies have the potential to improve short- and long-term health outcomes for CYP with health conditions, prevent adult onset disease and complications, and reduce the burden on health services.

Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.

Next generation DNA sequencing (NGS) has the potential to improve the diagnostic and prognostic utility of newborn screening programmes. This study assesses the feasibility of automating NGS on dried blood spot (DBS) DNA in a United Kingdom National Health Service (UK NHS) laboratory. An NGS panel targeting the entire coding sequence of five genes relevant to disorders currently screened for in newborns in the UK was validated on DBS DNA.