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Petrikin, Josh E; Cakici, Julie A; Clark, Michelle M; Willig, Laurel K; Sweeney, Nathaly M; Farrow, Emily G; Saunders, Carol J; Thiffault, Isabelle; Miller, Neil A; Zellmer, Lee; Herd, Suzanne M; Holmes, Anne M; Batalov, Serge; Veeraraghavan, Narayanan; Smith, Laurie D; Dimmock, David P; Leeder, J Steven; Kingsmore, Stephen F
Npj genomic medicine, 02/2018, Letnik: 3, Številka: 1Journal Article
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 ( = 32, cases) or standard genetic tests alone ( = 33, controls). The study was terminated early due to loss of equipoise: 73% (24) controls received genomic sequencing as standard tests, and 15% (five) controls underwent compassionate cross-over to receive rWGS. Nevertheless, intention to treat analysis showed the rate of genetic diagnosis within 28 days of enrollment (the primary end-point) to be higher in cases (31%, 10 of 32) than controls (3%, 1 of 33; difference, 28% 95% CI, 10-46%; = 0.003). Among infants enrolled in the first 25 days of life, the rate of neonatal diagnosis was higher in cases (32%, 7 of 22) than controls (0%, 0 of 23; difference, 32% 95% CI, 11-53%; = 0.004). Median age at diagnosis (25 days range 14-90 in cases vs. 130 days range 37-451 in controls) and median time to diagnosis (13 days range 1-84 in cases, vs. 107 days range 21-429 in controls) were significantly less in cases than controls ( = 0.04). In conclusion, rWGS increased the proportion of NICU/PICU infants who received timely diagnoses of genetic diseases.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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