RESUMEN

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. There is thus a need for targeted investment and appropriate governance in child health technology development to address the specific needs of this population; health technology must be versatile to meet the social, anatomical, cognitive, psychological, and physiological changes inherent to childhood development. Despite the growing demand for health technology for a sizeable global population, industry still wrongly perceives the market size is relatively small, and health technology development is often localised and fragmented with limited scope for spread and adoption. These challenges can be overcome by validating and prioritising unmet needs, involving CYP and their families throughout the innovation pathway, facilitating effective partnerships with key stakeholders, and utilising national and international infrastructure and networks. This paper outlines five innovations supported by NIHR Children and Young People MedTech Co-operative that illustrate how common challenges in child health technology development can be overcome. It is essential that we continue to address such challenges and invest in the health and wellbeing of CYP.

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RESUMEN

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. An automated process for DNA extraction, NGS and bioinformatics analysis was developed. The process was tested on DBS to determine feasibility, turnaround time and cost. The analytical sensitivity of the assay was 100% and analytical specificity was 99.96%, with a mean 99.5% concordance of variant calls between DBS and venous blood samples in regions with ≥30× coverage (96.8% across all regions; all variant calls were single nucleotide variants (SNVs), with indel performance not assessed). The pipeline enabled processing of up to 1000 samples a week with a turnaround time of four days from receipt of sample to reporting. This study concluded that it is feasible to automate targeted NGS on routine DBS samples in a UK NHS laboratory setting, but it may not currently be cost effective as a first line test.