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The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

2018; Nature Portfolio; Volume: 3; Issue: 1 Linguagem: Inglês

10.1038/s41525-018-0045-8

2056-7944

Josh E Petrikin, Julie A. Cakici, Michelle M. Clark, Laurel K. Willig, Nathaly M. Sweeney, Emily Farrow, Carol Saunders, Isabelle Thiffault, Neil Miller, Lee Zellmer, Suzanne Herd, Anne Holmes, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, David Dimmock, J. Steven Leeder, Stephen F. Kingsmore,

Cystic Fibrosis Research Advances

Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late to guide inpatient management. We performed an investigator-initiated, partially blinded, pragmatic, randomized, controlled trial to test the hypothesis that rapid whole-genome sequencing (rWGS) increased the proportion of NICU/PICU infants receiving a genetic diagnosis within 28 days. The participants were families with infants aged <4 months in a regional NICU and PICU, with illnesses of unknown etiology. The intervention was trio rWGS. Enrollment from October 2014 to June 2016, and follow-up until November 2016. Of all, 26 female infants, 37 male infants, and 2 infants of undetermined sex were randomized to receive rWGS plus standard genetic tests (