Putting genome-wide sequencing in neonates into perspective.
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- Record sourced from PubMed, PMID 30287924.
- Also identified by DOI 10.1038/s41436-018-0293-0.
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Abstract
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. We retrospectively evaluated all genetic NICU consultations in a 2-year period. 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. 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.
Medical subject headings
- Infant, Newborn, Diseases