Putting genome-wide sequencing in neonates into perspective

Pleuntje J. van der Sluijs; Emmelien Aten; Daniela Q.C.M. Barge-Schaapveld; Emilia K. Bijlsma; Regina Bökenkamp-Gramann; Laura Donker Kaat; Remco van Doorn; Dietje Fransen van de Putte; Arie van Haeringen; Arend D.J. ten Harkel; Yvonne Hilhorst-Hofstee; Mariette J.V. Hoffer; Nicolette S. den Hollander; Yvette van Ierland; Marije Koopmans; Marjolein Kriek; Setareh Moghadasi; Esther A.R. Nibbeling; Cacha M.P.C.D. Peeters-Scholte; Thomas P. Potjer; Maartje van Rij; Claudia A.L. Ruivenkamp; Julie W. Rutten; Sylke J. Steggerda; Manon Suerink; Ratna N.G.B. Tan; Karin van der Tuin; Remco Visser; Anne Sophie van der Werf –’t Lam; Monique Williams; Ruben Witlox; Gijs W.E. Santen

doi:10.1038/s41436-018-0293-0

Putting genome-wide sequencing in neonates into perspective

Pleuntje J. van der Sluijs, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Emilia K. Bijlsma, Regina Bökenkamp-Gramann, Laura Donker Kaat, Remco van Doorn, Dietje Fransen van de Putte, Arie van Haeringen, Arend D.J. ten Harkel, Yvonne Hilhorst-Hofstee, Mariette J.V. Hoffer, Nicolette S. den Hollander, Yvette van Ierland, Marije Koopmans, Marjolein Kriek, Setareh Moghadasi, Esther A.R. Nibbeling, Cacha M.P.C.D. Peeters-Scholte, Thomas P. PotjerMaartje van Rij, Claudia A.L. Ruivenkamp, Julie W. Rutten, Sylke J. Steggerda, Manon Suerink, Ratna N.G.B. Tan, Karin van der Tuin, Remco Visser, Anne Sophie van der Werf –’t Lam, Monique Williams, Ruben Witlox, Gijs W.E. Santen^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	1074-1082
Number of pages	9
Journal	Genetics in Medicine
Volume	21
Issue number	5
DOIs	https://doi.org/10.1038/s41436-018-0293-0
Publication status	Published - 1 May 2019
Externally published	Yes

Keywords

clinical geneticists
ES
NICU
rapid
sequencing

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van der Sluijs, P. J., Aten, E., Barge-Schaapveld, D. Q. C. M., Bijlsma, E. K., Bökenkamp-Gramann, R., Donker Kaat, L., van Doorn, R., van de Putte, D. F., van Haeringen, A., ten Harkel, A. D. J., Hilhorst-Hofstee, Y., Hoffer, M. J. V., den Hollander, N. S., van Ierland, Y., Koopmans, M., Kriek, M., Moghadasi, S., Nibbeling, E. A. R., Peeters-Scholte, C. M. P. C. D., ... Santen, G. W. E. (2019). Putting genome-wide sequencing in neonates into perspective. Genetics in Medicine, 21(5), 1074-1082. https://doi.org/10.1038/s41436-018-0293-0

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title = "Putting genome-wide sequencing in neonates into perspective",

abstract = "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.",

keywords = "clinical geneticists, ES, NICU, rapid, sequencing",

author = "{van der Sluijs}, {Pleuntje J.} and Emmelien Aten and Barge-Schaapveld, {Daniela Q.C.M.} and Bijlsma, {Emilia K.} and Regina B{\"o}kenkamp-Gramann and {Donker Kaat}, Laura and {van Doorn}, Remco and {van de Putte}, {Dietje Fransen} and {van Haeringen}, Arie and {ten Harkel}, {Arend D.J.} and Yvonne Hilhorst-Hofstee and Hoffer, {Mariette J.V.} and {den Hollander}, {Nicolette S.} and {van Ierland}, Yvette and Marije Koopmans and Marjolein Kriek and Setareh Moghadasi and Nibbeling, {Esther A.R.} and Peeters-Scholte, {Cacha M.P.C.D.} and Potjer, {Thomas P.} and {van Rij}, Maartje and Ruivenkamp, {Claudia A.L.} and Rutten, {Julie W.} and Steggerda, {Sylke J.} and Manon Suerink and Tan, {Ratna N.G.B.} and {van der Tuin}, Karin and Remco Visser and {van der Werf –{\textquoteright}t Lam}, {Anne Sophie} and Monique Williams and Ruben Witlox and Santen, {Gijs W.E.}",

year = "2019",

month = may,

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doi = "10.1038/s41436-018-0293-0",

language = "English",

volume = "21",

pages = "1074--1082",

journal = "Genetics in Medicine",

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van der Sluijs, PJ, Aten, E, Barge-Schaapveld, DQCM, Bijlsma, EK, Bökenkamp-Gramann, R, Donker Kaat, L, van Doorn, R, van de Putte, DF, van Haeringen, A, ten Harkel, ADJ, Hilhorst-Hofstee, Y, Hoffer, MJV, den Hollander, NS, van Ierland, Y, Koopmans, M, Kriek, M, Moghadasi, S, Nibbeling, EAR, Peeters-Scholte, CMPCD, Potjer, TP, van Rij, M, Ruivenkamp, CAL, Rutten, JW, Steggerda, SJ, Suerink, M, Tan, RNGB, van der Tuin, K, Visser, R, van der Werf –’t Lam, AS, Williams, M, Witlox, R & Santen, GWE 2019, 'Putting genome-wide sequencing in neonates into perspective', Genetics in Medicine, vol. 21, no. 5, pp. 1074-1082. https://doi.org/10.1038/s41436-018-0293-0

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.

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

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U2 - 10.1038/s41436-018-0293-0

DO - 10.1038/s41436-018-0293-0

M3 - Article

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AN - SCOPUS:85054490444

SN - 1098-3600

VL - 21

SP - 1074

EP - 1082

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 5

ER -

Putting genome-wide sequencing in neonates into perspective

Abstract

Keywords

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