TY - JOUR
T1 - Putting genome-wide sequencing in neonates into perspective
AU - van der Sluijs, Pleuntje J.
AU - Aten, Emmelien
AU - Barge-Schaapveld, Daniela Q.C.M.
AU - Bijlsma, Emilia K.
AU - Bökenkamp-Gramann, Regina
AU - Donker Kaat, Laura
AU - van Doorn, Remco
AU - van de Putte, Dietje Fransen
AU - van Haeringen, Arie
AU - ten Harkel, Arend D.J.
AU - Hilhorst-Hofstee, Yvonne
AU - Hoffer, Mariette J.V.
AU - den Hollander, Nicolette S.
AU - van Ierland, Yvette
AU - Koopmans, Marije
AU - Kriek, Marjolein
AU - Moghadasi, Setareh
AU - Nibbeling, Esther A.R.
AU - Peeters-Scholte, Cacha M.P.C.D.
AU - Potjer, Thomas P.
AU - van Rij, Maartje
AU - Ruivenkamp, Claudia A.L.
AU - Rutten, Julie W.
AU - Steggerda, Sylke J.
AU - Suerink, Manon
AU - Tan, Ratna N.G.B.
AU - van der Tuin, Karin
AU - Visser, Remco
AU - van der Werf –’t Lam, Anne Sophie
AU - Williams, Monique
AU - Witlox, Ruben
AU - Santen, Gijs W.E.
N1 - Publisher Copyright:
© 2018, American College of Medical Genetics and Genomics.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2019/5/1
Y1 - 2019/5/1
N2 - Purpose: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagnostic options still remains unquantified in this population. Methods: We retrospectively evaluated all genetic NICU consultations in a 2-year period. Results: In 132 retrospectively evaluated NICU consultations 27 of 32 diagnoses (84.4%) were made using standard genetic workup. Most diagnoses (65.6%) were made within 16 days. Diagnostic ES yield was 5/29 (17.2%). Genetic diagnoses had a direct effect on clinical management in 90.6% (29/32) of patients. Conclusions: Our study shows that exome sequencing has a place in NICU diagnostics, but given the associated costs and the high yield of alternative diagnostic strategies, we recommend to first perform clinical genetic consultation.
AB - Purpose: Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagnostic options still remains unquantified in this population. Methods: We retrospectively evaluated all genetic NICU consultations in a 2-year period. Results: In 132 retrospectively evaluated NICU consultations 27 of 32 diagnoses (84.4%) were made using standard genetic workup. Most diagnoses (65.6%) were made within 16 days. Diagnostic ES yield was 5/29 (17.2%). Genetic diagnoses had a direct effect on clinical management in 90.6% (29/32) of patients. Conclusions: Our study shows that exome sequencing has a place in NICU diagnostics, but given the associated costs and the high yield of alternative diagnostic strategies, we recommend to first perform clinical genetic consultation.
KW - clinical geneticists
KW - ES
KW - NICU
KW - rapid
KW - sequencing
UR - http://www.scopus.com/inward/record.url?scp=85054490444&partnerID=8YFLogxK
U2 - 10.1038/s41436-018-0293-0
DO - 10.1038/s41436-018-0293-0
M3 - Article
C2 - 30287924
AN - SCOPUS:85054490444
SN - 1098-3600
VL - 21
SP - 1074
EP - 1082
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 5
ER -