ArticleMolecular genetics & genomic medicine2020
When moments matter: Finding answers with rapid exome sequencing.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.American journal of human genetics · 2025Article
- Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.NPJ genomic medicine · 2024Review
- Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.Frontiers in genetics · 2023Article
- Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings.Frontiers in pediatrics · 2023Article
- The Role of Genome Sequencing in Neonatal Intensive Care Units.Annual review of genomics and human genetics · 2022Review
- When moments matter: Finding answers with rapid exome sequencing.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWhen time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients. In this paper, we present the diagnostic rates and improved quality of life for patients undergoing clinical rapid exome sequencing.
methodsThe clinical histories and results of 41 patients undergoing rapid exome sequencing were retrospectively reviewed.
resultsClinical rapid exome sequencing identified a definitive diagnosis in 13/41 (31.7%) and other relevant findings in 17 of the patients (41.5%). The average time to verbal report was 7 days; to written report was 11 days.
conclusionsOur observations demonstrate the utility and effectiveness of rapid family-based diagnostic exome sequencing in improving patients care.
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