The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.
newborn screening
next-generation sequencing
recommended uniform screening panel
whole exome sequencing
whole genome sequencing
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2021
2021
Historique:
received:
03
02
2021
accepted:
07
06
2021
entrez:
5
8
2021
pubmed:
6
8
2021
medline:
6
8
2021
Statut:
epublish
Résumé
Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on neonates. Screening tests were originally developed and implemented one at a time, but newer methods have allowed the use of multiplex technologies to expand additions more rapidly to standard panels. Recent improvements in next-generation sequencing are also evolving rapidly from first focusing on individual genes, then panels, and finally all genes as encompassed by whole exome and genome sequencing. The intersection of these two technologies brings the revolutionary possibility of identifying all genetic disorders in newborns, allowing implementation of therapies at the optimum time regardless of symptoms. This article reviews the history of newborn screening and early studies examining the use of whole genome and exome sequencing as a screening tool. Lessons learned from these studies are discussed, along with technical, ethical, and societal challenges to broad implementation.
Identifiants
pubmed: 34350142
doi: 10.3389/fped.2021.663752
pmc: PMC8326411
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
663752Informations de copyright
Copyright © 2021 Woerner, Gallagher, Vockley and Adhikari.
Déclaration de conflit d'intérêts
AA is an employee of Illumina, Inc. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Pediatrics. 1963 Sep;32:338-43
pubmed: 14063511
J Inherit Metab Dis. 1990;13(3):321-4
pubmed: 2122093
N Engl J Med. 2021 Jan 7;384(1):1-4
pubmed: 33393745
Bioinformatics. 2016 Oct 1;32(19):2936-46
pubmed: 27318206
Am J Hum Genet. 2001 Jun;68(6):1408-18
pubmed: 11349232
N Engl J Med. 2002 Nov 7;347(19):1512-20
pubmed: 12421895
BMC Genomics. 2013;14 Suppl 3:S3
pubmed: 23819870
J Cyst Fibros. 2016 May;15(3):302-8
pubmed: 27118577
Clin Chim Acta. 1982 Nov 24;126(1):53-67
pubmed: 7172449
Nat Genet. 2015 Mar;47(3):296-303
pubmed: 25621458
Nat Genet. 2016 Feb;48(2):214-20
pubmed: 26727659
Eur J Pediatr. 1996 Jul;155 Suppl 1:S4-5
pubmed: 8828599
Hum Mutat. 2015 May;36(5):513-23
pubmed: 25684150
Sci Rep. 2017 Aug 29;7(1):9810
pubmed: 28851938
Nat Genet. 2016 May;48(5):488-96
pubmed: 27064255
Hum Genet. 2013 Oct;132(10):1077-130
pubmed: 23820649
Nature. 2009 Sep 10;461(7261):272-6
pubmed: 19684571
Genet Med. 2016 Mar;18(3):221-30
pubmed: 26334177
Am J Hum Genet. 2019 Jan 3;104(1):76-93
pubmed: 30609409
Int J Neonatal Screen. 2021 Mar 21;7(1):
pubmed: 33801060
Hum Genet. 1989 Mar;81(4):363-6
pubmed: 2703239
J Comput Biol. 2004;11(2-3):377-94
pubmed: 15285897
Nucleic Acids Res. 2015 Jan;43(2):e10
pubmed: 25392414
Amino Acids. 2011 Mar;40(3):975-80
pubmed: 20811800
Clin Chem. 1999 Aug;45(8 Pt 1):1269-77
pubmed: 10430794
Nat Methods. 2014 Mar;11(3):294-6
pubmed: 24487584
J Hum Genet. 2020 Jan;65(1):11-19
pubmed: 31558760
Pediatrics. 1979 Feb;63(2):180-91
pubmed: 108659
Nat Med. 2020 Sep;26(9):1392-1397
pubmed: 32778825
Pediatrics. 2016 May;137(5):
pubmed: 27244826
J Pediatr. 1994 Mar;124(3):409-15
pubmed: 8120710
Nat Rev Genet. 2011 Sep 27;12(11):745-55
pubmed: 21946919
NPJ Genom Med. 2018 Apr 4;3:10
pubmed: 29644095
Genome Res. 2014 Jan;24(1):1-13
pubmed: 24196873
Genome Biol. 2016 Nov 17;17(1):233
pubmed: 27855690
Genome Biol. 2014 Jun 26;15(6):R84
pubmed: 24970577
JAMA. 2014 Aug 20;312(7):729-38
pubmed: 25138334
Yonsei Med J. 2018 Jul;59(5):652-661
pubmed: 29869463
Genet Med. 2011 Apr;13(4):301-4
pubmed: 21407080
Pediatrics. 2017 Feb;139(2):
pubmed: 28096516
N Engl J Med. 2003 Jun 5;348(23):2304-12
pubmed: 12788994
Nucleic Acids Res. 2012 Jul;40(Web Server issue):W452-7
pubmed: 22689647
Cell. 2016 Nov 17;167(5):1369-1384.e19
pubmed: 27863249
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):370-7
pubmed: 16763904
Sci Transl Med. 2011 Jan 12;3(65):65ra4
pubmed: 21228398
Hastings Cent Rep. 2018 Jul;48 Suppl 2:S2-S6
pubmed: 30133723
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Hum Mutat. 2019 Sep;40(9):1202-1214
pubmed: 31283070
Nat Rev Genet. 2018 May;19(5):325
pubmed: 29456250
Bioinformatics. 2007 Nov 1;23(21):2918-25
pubmed: 17855419
Genet Med. 2011 Mar;13(3):230-54
pubmed: 21325949
Hum Mol Genet. 2015 Apr 15;24(8):2125-37
pubmed: 25552646
N Engl J Med. 2016 Aug 18;375(7):655-65
pubmed: 27532831
Pediatrics. 2000 Aug;106(2 Pt 2):389-422
pubmed: 10947682
Annu Rev Genomics Hum Genet. 2012;13:381-93
pubmed: 22559326
J Inherit Metab Dis. 2007 Aug;30(4):585-92
pubmed: 17643193
Genet Med. 2014 Dec;16(12):889-95
pubmed: 24875301
Crit Rev Clin Lab Sci. 2013 Nov;50(6):142-62
pubmed: 24295058
Am J Hum Genet. 2020 Oct 1;107(4):596-611
pubmed: 32853555
Hum Genet. 1987 Mar;75(3):213-6
pubmed: 3030923
Nat Methods. 2015 Oct;12(10):931-4
pubmed: 26301843
Nucleic Acids Res. 2011 Sep 1;39(17):e118
pubmed: 21727090
Semin Perinatol. 2010 Apr;34(2):170-9
pubmed: 20207267
Pediatrics. 2006 Jun;117(6):2290-303
pubmed: 16740880
Genet Med. 2019 Feb;21(2):498-504
pubmed: 29895853
Am J Hum Genet. 2016 Oct 6;99(4):877-885
pubmed: 27666373
Bioinformatics. 2009 Nov 1;25(21):2744-50
pubmed: 19734154
Birth Defects Res. 2020 Mar 1;112(4):350-366
pubmed: 32115905
Nat Methods. 2014 Aug;11(8):801-7
pubmed: 25075907
Ann Lab Med. 2016 Nov;36(6):561-72
pubmed: 27578510
Acta Paediatr. 1954 Jan;43(1):64-77
pubmed: 13138177
Intensive Care Med. 2019 May;45(5):627-636
pubmed: 30847515
NPJ Genom Med. 2020 Sep 4;5:36
pubmed: 32944285
Genet Med. 2006 May;8 Suppl 1:1S-252S
pubmed: 16783161
Pediatrics. 2003 Dec;112(6 Pt 2):1514-5
pubmed: 14654655
Genome Res. 2011 Jun;21(6):974-84
pubmed: 21324876
Genet Med. 2011 Mar;13(3):255-62
pubmed: 21173700
Eur J Pediatr. 2003 Dec;162 Suppl 1:S57-61
pubmed: 14615887
Nat Rev Genet. 2004 May;5(5):335-44
pubmed: 15143316
Nucleic Acids Res. 2016 Oct 14;44(18):8641-8654
pubmed: 27280978
N Engl J Med. 2014 Sep 18;371(12):1170
pubmed: 25229935
Genetics. 2015 Jun;200(2):413-22
pubmed: 25823446
Nat Genet. 2010 Jan;42(1):30-5
pubmed: 19915526
N Engl J Med. 2018 Oct 04;379(14):1353-1362
pubmed: 30281996
Clin Pediatr Endocrinol. 2016 Jan;25(1):1-8
pubmed: 26865749
Am J Hum Genet. 2017 Sep 7;101(3):315-325
pubmed: 28886340
Nat Genet. 2017 Apr;49(4):618-624
pubmed: 28288115
Genet Med. 2015 May;17(5):337-47
pubmed: 25255367
Clin Biochem. 2018 Feb;52:48-55
pubmed: 29111448
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928
Semin Perinatol. 2010 Apr;34(2):134-44
pubmed: 20207263
Hum Mutat. 2012 Aug;33(8):1267-74
pubmed: 22573477
MMWR Recomm Rep. 2001 Apr 13;50(RR-3):1-34
pubmed: 15580734
Nat Rev Genet. 2011 Aug 18;12(9):628-40
pubmed: 21850043
Am J Hum Genet. 2020 Nov 5;107(5):932-941
pubmed: 33108757
Int J Neonatal Screen. 2019 Dec;5(4):40
pubmed: 31844782
Arch Pediatr Adolesc Med. 2006 Mar;160(3):302-9
pubmed: 16520451
Genet Med. 2018 Aug;20(8):831-839
pubmed: 29215646