Journal Article

Putting genome-wide sequencing in neonates into perspective

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

2019

Overview

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.

• Publisher: Nature Publishing Group US,Elsevier Limited
• Subject: Biomedical and Life Sciences / Biomedicine / Chromosome Mapping - methods / Exome - genetics / Female / Genetic Testing - economics / Genome-Wide Association Study - methods / Genomes / Human Genetics / Humans / Infant, Newborn / Infant, Newborn, Diseases - diagnosis / Infant, Newborn, Diseases - genetics / Intensive Care, Neonatal / Laboratory Medicine / Male / Retrospective Studies / Whole Exome Sequencing - economics / Whole Exome Sequencing - methods / Whole genome sequencing