Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Journal
medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986
Informations de publication
Date de publication:
20 Mar 2023
20 Mar 2023
Historique:
medline:
31
3
2023
entrez:
30
3
2023
pubmed:
31
3
2023
Statut:
epublish
Résumé
Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions. Probands with neurologic, cardiac, or immunologic conditions were offered GS and TGP testing. Diagnostic yield was compared using a fully paired study design. 645 probands (median age 9 years) underwent genetic testing, and 113 (17.5%) received a molecular diagnosis. Among 642 probands with both GS and TGP testing, GS yielded 106 (16.5%) and TGPs yielded 52 (8.1%) diagnoses ( GS may yield up to twice as many diagnoses in pediatric patients compared to TGP testing, but not yet across all population groups.
Identifiants
pubmed: 36993157
doi: 10.1101/2023.03.18.23286992
pmc: PMC10055570
pii:
doi:
Types de publication
Preprint
Langues
eng
Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG009610
Pays : United States
Commentaires et corrections
Type : UpdateIn
Références
JAMA Pediatr. 2020 Sep 1;174(9):821-822
pubmed: 32597967
N Engl J Med. 2021 Nov 11;385(20):1868-1880
pubmed: 34758253
Hum Genet. 2022 Apr;141(3-4):495-504
pubmed: 34515852
Genet Med. 2020 Feb;22(2):245-257
pubmed: 31690835
J Pediatr Genet. 2017 Jun;6(2):61-76
pubmed: 28496993
Health Policy. 2022 Apr;126(4):337-345
pubmed: 35317923
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Ann Neurol. 2014 Oct;76(4):473-83
pubmed: 25131622
Genet Med. 2019 Jan;21(1):3-16
pubmed: 29760485
Orphanet J Rare Dis. 2022 Feb 19;17(1):60
pubmed: 35183220
NPJ Genom Med. 2018 Jul 9;3:16
pubmed: 30002876
JAMA Cardiol. 2018 Apr 1;3(4):341-345
pubmed: 29490334
Genet Med. 2015 Jun;17(6):444-51
pubmed: 25232854
Genet Med. 2017 Feb;19(2):249-255
pubmed: 27854360
JAMA. 2014 Nov 12;312(18):1870-9
pubmed: 25326635
NPJ Genom Med. 2016 Jan 13;1:
pubmed: 28567303
Nature. 2014 Jul 17;511(7509):344-7
pubmed: 24896178
NPJ Genom Med. 2022 Apr 8;7(1):27
pubmed: 35395838
Genome Med. 2017 May 30;9(1):43
pubmed: 28554332
N Engl J Med. 2017 Jan 5;376(1):21-31
pubmed: 27959697
Genet Med. 2018 Oct;20(10):1122-1130
pubmed: 29446766
Am J Med Genet A. 2023 Mar;191(3):699-710
pubmed: 36563179
Genome Biol. 2019 Nov 20;20(1):246
pubmed: 31747936
Genet Med. 2017 Sep;19(9):1055-1063
pubmed: 28333917
Med J Aust. 2018 Aug 3;209(5):197-199
pubmed: 29621958
Trials. 2021 Jan 14;22(1):56
pubmed: 33446240
Genet Med. 2011 Jul;13(7):680-5
pubmed: 21681106
Eur J Hum Genet. 2021 May;29(5):722-723
pubmed: 33597733
Genet Med. 2021 May;23(5):942-949
pubmed: 33531665
Nat Med. 2022 Feb;28(2):243-250
pubmed: 35145307
Am J Hum Genet. 2018 Sep 6;103(3):319-327
pubmed: 30193136
Genet Med. 2021 Sep;23(9):1689-1696
pubmed: 33976420
Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8
pubmed: 25827230
N Engl J Med. 2014 Jun 19;370(25):2418-25
pubmed: 24941179
Genet Med. 2018 Apr;20(4):435-443
pubmed: 28771251