The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
| Autor: | Lee Zellmer, Josh E Petrikin, Anne Holmes, David Dimmock, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, Carol J. Saunders, Emily G. Farrow, Nathaly M. Sweeney, Isabelle Thiffault, Suzanne Herd, Stephen F. Kingsmore, Steven J. Leeder, Neil A. Miller, Julie A. Cakici, Laurel K. Willig, Michelle M. Clark |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty lcsh:QH426-470 lcsh:Medicine Disease Article law.invention 03 medical and health sciences Randomized controlled trial law Intensive care Genetics Medicine Medical diagnosis Molecular Biology Genetics (clinical) Genetic testing Whole genome sequencing Intention-to-treat analysis medicine.diagnostic_test business.industry lcsh:R 3. Good health lcsh:Genetics 030104 developmental biology Etiology business |
| Zdroj: | NPJ Genomic Medicine npj Genomic Medicine, Vol 3, Iss 1, Pp 1-11 (2018) |
| ISSN: | 2056-7944 |
| DOI: | 10.1038/s41525-018-0045-8 |
| Popis: | 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 Whole genome sequencing: Speedier diagnoses in infants Genetic disorders in critically ill infants can be diagnosed in as little as 26 h by rapid whole genome sequencing (rWGS). A study led by Stephen F. Kingsmore at the Rady Children’s Institute for Genomic Medicine in San Diego and Children’s Mercy Hospital in Kansas City compared the time to genetic diagnosis in 65 infants with inherited diseases of unknown cause using rWGS, clinical confirmatory testing and standard genetic tests or standard genetic tests alone. They found that the addition of rWGS including confirmatory testing significantly decreased the time to diagnosis, which in newborns can mean the difference between life and death. Because of the increasing accessibility and decreasing costs of the technology and the critical need for timely and effective intervention in infants with suspected genetic diseases, the authors advocate the use of rWGS as a first-line diagnostic test. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|