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

Autor:	van Campen JC; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Sollars ESA; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Thomas RC; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Bartlett CM; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Milano A; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Parker MD; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Dawe J; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Winship PR; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Peck G; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Grafham D; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Kirk RJ; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Bonham JR; Division of Pharmacy, Diagnostics and Genetics, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK., Goodeve AC; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.; Department of Infection, Immunity & Cardiovascular Disease, Faculty of Medicine, Dentistry & Health University of Sheffield Medical School, Beech Hill Road, Sheffield S10 2RX, UK., Dalton A; Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.
Jazyk:	angličtina
Zdroj:	International journal of neonatal screening [Int J Neonatal Screen] 2019 Dec; Vol. 5 (4), pp. 40. Date of Electronic Publication: 2019 Nov 05.
DOI:	10.3390/ijns5040040
Abstrakt:	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. Competing Interests: Conflicts of Interest: The authors declare no conflict of interest.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu