ReviewItalian journal of pediatrics2017
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Review in Italian journal of pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.American journal of human genetics · 2019Trial
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- "The ability to get ahead": Australian parent perspectives on genomics in newborn screening and considerations for potential models of care.European journal of human genetics : EJHG · 2025Article
- Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.Frontiers in pediatrics · 2025Article
- Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.European journal of human genetics : EJHG · 2024Article
- Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.BMC medical genomics · 2024Article
- Assessment of Medical Test Overuse and Its Impact on Pediatric Emergency Department Outcomes in Upper Respiratory Tract Infections in a University Hospital in Lithuania.Diagnostics (Basel, Switzerland) · 2024Article
- Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.International journal of neonatal screening · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants.Children (Basel, Switzerland) · 2023Article
- Rapid genomic testing for critically ill children: time to become standard of care?European journal of human genetics : EJHG · 2022Review
- Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center's solution.Journal of perinatology : official journal of the California Perinatal Association · 2022Article
- Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.The application of clinical genetics · 2022Article
- Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China.Frontiers in pediatrics · 2022Article
- Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.Human mutation · 2021Article
- Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.Journal of pediatric genetics · 2021Review
- Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.Italian journal of pediatrics · 2021Article
- Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.Italian journal of pediatrics · 2021Article
- The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.Acta obstetricia et gynecologica Scandinavica · 2021Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, especially in the setting of critical clinical conditions. The differential diagnosis process in the neonatal intensive care unit (NICU) may be time-consuming, uncomfortable for the patient due to repeated sampling, and ineffective in reaching a molecular diagnosis during NICU stay. Serial gene sequencing (Sanger sequencing) may be successful only for conditions for which the clinical phenotype strongly suggests a diagnostic hypothesis and for genetically homogeneous diseases. Newborn screenings with Guthrie cards, which vary from country to country, are designed to only test for a few dozen genetic diseases out of the more than 6000 diseases for which a genetic characterization is available. The use of WES in selected cases in the NICU may overcome these issues. We present an intersociety document that aims to define the best indications for the use of WES in different clinical scenarios in the NICU. We propose that WES is used in the NICU for critically ill newborn infants when an early diagnosis is desirable to guide the clinical management during NICU stay, when a strong hypothesis cannot be formulated based on the clinical phenotype or the disease is genetically heterogeneous, and when specific non-genetic laboratory tests are not available. The use of WES may reduce the time for diagnosis in infants during NICU stay and may eventually result in cost-effectiveness.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.