Peer-reviewed article
The Challenge of Analyzing the Results of Next-Generation Sequencing in Children
In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical…
In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical presentations. As genomic and exomic testing expands in both the research and clinical settings, pediatricians will need to understand the technology of next-generation sequencing and the complexity of interpreting genomic variants relevant to patient phenotypic features. This article briefly explains the technology by which genomes are sequenced and discusses some of the complexity related to interpreting genomic variants. We conclude with some thoughts on the clinical applications of such testing.
Related writing.
Why the Dutch Keep Pediatric Euthanasia Illegal
Pediatric euthanasia in The Netherlands has a unique legal status - it is illegal, openly practiced, and well-regulated. The most surprising part isn't the law that enabled this — it's what happened after.
Associations of Physician Perspectives, Personal Choices, and Counseling for Severe Congenital Heart Defects
OBJECTIVE: To assess whether physicians' perspectives of outcomes or personal choices are associated with prenatal counseling for termination of pregnancy (TOP) or perinatal hospice for severe congenital heart defects (CHDs). METHOD:…
Variation in the extent to which patient information leaflets describe potential benefits and harms of trial interventions: a commentary
Clinical trial participants must understand the possible risks and benefits of trial interventions before providing their informed consent to participate. The aim of this commentary is twofold: to summarize the discrepancies in the extent…
Pediatric Gender Medicine—Reply
Third, emerging evidence suggests that modulating glycosylation pathways could offer a novel therapeutic strategy for asthma management.Xie et al 5 proposed that targeting glycan recognition receptors, such as sialic acid-binding…
About the author
John D. Lantos is a pediatrician and bioethicist writing on AI in medicine, neonatal intensive care, and end-of-life decisions. His essays appear in JAMA, JAMA Pediatrics, the Hastings Center Report, the New England Journal of Medicine, and Aeon. Read more about John.