NeoSeq: a new method of genomic sequencing for newborn screening

Abstract Objective To explore the clinical application of NeoSeq in newborn screening. Methods Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-posit...

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Autores principales:	Huaiyan Wang, Yuqi Yang, Lingna Zhou, Yu Wang, Wei Long, Bin Yu
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Newborn screening Tandem mass spectrometry Newborn genomic sequencing Next-generation sequencing Multiplex PCR amplicon sequencing assay Medicine R
Acceso en línea:	https://doaj.org/article/b776e72405dd47229ceb29b5e2480efc
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spelling	oai:doaj.org-article:b776e72405dd47229ceb29b5e2480efc2021-11-21T12:26:11ZNeoSeq: a new method of genomic sequencing for newborn screening10.1186/s13023-021-02116-51750-1172https://doaj.org/article/b776e72405dd47229ceb29b5e2480efc2021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02116-5https://doaj.org/toc/1750-1172Abstract Objective To explore the clinical application of NeoSeq in newborn screening. Methods Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cases (FPC), and 100 negative cases. The dried blood spots of the infants were analyzed with NeoSeq, which is based on multiplex PCR amplicon sequencing. Results Overall, the sensitivity of NeoSeq was 55.6% (20/36) in the detection of TPC. NeoSeq detected disease-related genes in 20 of 36 TPC infants, while it could not identify these genes in eight children. Five cases (3.1%) with disease risk were additionally found in the FPC and NC cohorts. There was a significant difference in the diagnostic time between the two methods—10 days for NeoSeq vs. 43 days for traditional NBS. Conclusions NeoSeq is an economic genomic screening test for newborn screening. It can detect most inborn errors of metabolism, reduce the rate of false positive results, shorten the porting cycles, and reduce the screening cost. However, it is still necessary to further optimize the panel design and add more clinically relevant genomic variants to increase its sensitivity.Huaiyan WangYuqi YangLingna ZhouYu WangWei LongBin YuBMCarticleNewborn screeningTandem mass spectrometryNewborn genomic sequencingNext-generation sequencingMultiplex PCR amplicon sequencing assayMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Newborn screening Tandem mass spectrometry Newborn genomic sequencing Next-generation sequencing Multiplex PCR amplicon sequencing assay Medicine R
spellingShingle	Newborn screening Tandem mass spectrometry Newborn genomic sequencing Next-generation sequencing Multiplex PCR amplicon sequencing assay Medicine R Huaiyan Wang Yuqi Yang Lingna Zhou Yu Wang Wei Long Bin Yu NeoSeq: a new method of genomic sequencing for newborn screening
description	Abstract Objective To explore the clinical application of NeoSeq in newborn screening. Methods Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cases (FPC), and 100 negative cases. The dried blood spots of the infants were analyzed with NeoSeq, which is based on multiplex PCR amplicon sequencing. Results Overall, the sensitivity of NeoSeq was 55.6% (20/36) in the detection of TPC. NeoSeq detected disease-related genes in 20 of 36 TPC infants, while it could not identify these genes in eight children. Five cases (3.1%) with disease risk were additionally found in the FPC and NC cohorts. There was a significant difference in the diagnostic time between the two methods—10 days for NeoSeq vs. 43 days for traditional NBS. Conclusions NeoSeq is an economic genomic screening test for newborn screening. It can detect most inborn errors of metabolism, reduce the rate of false positive results, shorten the porting cycles, and reduce the screening cost. However, it is still necessary to further optimize the panel design and add more clinically relevant genomic variants to increase its sensitivity.
format	article
author	Huaiyan Wang Yuqi Yang Lingna Zhou Yu Wang Wei Long Bin Yu
author_facet	Huaiyan Wang Yuqi Yang Lingna Zhou Yu Wang Wei Long Bin Yu
author_sort	Huaiyan Wang
title	NeoSeq: a new method of genomic sequencing for newborn screening
title_short	NeoSeq: a new method of genomic sequencing for newborn screening
title_full	NeoSeq: a new method of genomic sequencing for newborn screening
title_fullStr	NeoSeq: a new method of genomic sequencing for newborn screening
title_full_unstemmed	NeoSeq: a new method of genomic sequencing for newborn screening
title_sort	neoseq: a new method of genomic sequencing for newborn screening
publisher	BMC
publishDate	2021
url	https://doaj.org/article/b776e72405dd47229ceb29b5e2480efc
work_keys_str_mv	AT huaiyanwang neoseqanewmethodofgenomicsequencingfornewbornscreening AT yuqiyang neoseqanewmethodofgenomicsequencingfornewbornscreening AT lingnazhou neoseqanewmethodofgenomicsequencingfornewbornscreening AT yuwang neoseqanewmethodofgenomicsequencingfornewbornscreening AT weilong neoseqanewmethodofgenomicsequencingfornewbornscreening AT binyu neoseqanewmethodofgenomicsequencingfornewbornscreening
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NeoSeq: a new method of genomic sequencing for newborn screening

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