ReviewNPJ genomic medicine2024
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Review in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
20 citing papers in PubMed, 23 citations in OpenAlex.
- Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.Communications medicine · 2026Review
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
- Identification of biallelic loss-of-functionJournal of medical genetics · 2026Article
- Implementation of a medical genomics program for rare diseases in Uruguay.Orphanet journal of rare diseases · 2026Article
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Review
- Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery.Clinical genetics · 2026Article
- Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability.The Journal of molecular diagnostics : JMD · 2026Article
- Molecular diagnostics 101: how to use genetic tests in classical hematology.Hematology. American Society of Hematology. Education Program · 2025Review
- Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.Prenatal diagnosis · 2025Review
- First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.Clinical genetics · 2025Article
- Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.Genome medicine · 2025Article
- The Fortunes of Genomic Medicine: A Quarter Century of Promise.Annals of human genetics · 2025Article
- Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.NPJ genomic medicine · 2025Article
- Advances in Genetic Testing of Neurologically Abnormal Neonates in the Neonatal Intensive Care Unit.Clinics in perinatology · 2025Review
- ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges.International journal of molecular sciences · 2025Article
- Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies.Pediatric research · 2025Review
- Current Advances and Challenges in Gene Therapies for Neurologic Disorders: A Review for the Clinician.Neurology. Genetics · 2025Review
- Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.Human mutation · 2025Article
- How does personal utility depend on clinical setting? Evidence from 3 cohorts.Genetics in medicine open · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical Genome Initiative conducted a literature review to identify appropriate clinical indications for GS. Studies published from January 2011 to August 2022 that reported on the diagnostic yield (DY) or clinical utility of GS were included. An exploratory meta-analysis using a random effects model evaluated DY based on cohort size and diagnosed cases per cohort. Seventy-one studies met inclusion criteria, comprising over 13,000 patients who received GS in one of the following settings: hospitalized pediatric patients, pediatric outpatients, adult outpatients, or mixed. GS was the first-line test in 38% (27/71). The unweighted mean DY of first-line GS was 45% (12-73%), 33% (6-86%) in cohorts with prior genetic testing, and 33% (9-60%) in exome-negative cohorts. Clinical utility was reported in 81% of first-line GS studies in hospitalized pediatric patients. Changes in management varied by cohort and underlying molecular diagnosis (24-100%). To develop evidence-informed points to consider, the quality of all 71 studies was assessed using modified American College of Radiology (ACR) criteria, with five core points to consider developed, including recommendations for use of GS in the N/PICU, in lieu of sequential testing and when disorders with substantial allelic heterogeneity are suspected. Future large and controlled studies in the pediatric and adult populations may support further refinement of these recommendations.
Identifiers
What OpenQuestion holds
Registered trials
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.