ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.JAMA network open · 2022Pooled it
- Rapid genomic sequencing in the NICU: Who to test and why.European journal of human genetics : EJHG · 2026Review
- Exome sequencing early in outpatient evaluation in NCGENES 2: Changing the course of the diagnostic odyssey?HGG advances · 2026Article
- Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.medRxiv : the preprint server for health sciences · 2026Article
- Referral route: a determinant of inequity for children with undiagnosed genetic diseases?Frontiers in genetics · 2026Article
- Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.NPJ dementia · 2026Article
- Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine.The Journal of molecular diagnostics : JMD · 2025Article
- First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.Clinical genetics · 2025Article
- Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.Clinical genetics · 2025Article
- Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data.Applied health economics and health policy · 2025Article
- Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.Journal of human genetics · 2025Article
- Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.Neurology · 2025Article
- A genetically determined molecular switch modulates the anti-inflammatory potential of human IgA.Frontiers in immunology · 2025Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.Genome research · 2024Article
- The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.American journal of human genetics · 2024Article
- Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit.Journal of perinatology : official journal of the California Perinatal Association · 2024Observational
- De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.American journal of medical genetics. Part A · 2024Article
Corrections and comments
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Authors and funding
39 authors.
Funding
Abstract
purposeSouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research.
methodsGS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing.
resultsDefinitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants, and 14% of infants harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing, suggesting that GS testing is better for obtaining early genetic diagnosis. We also identified phenotypes that correlate with the likelihood of receiving a DD/LD finding, such as craniofacial, ophthalmologic, auditory, skin, and hair abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic groups.
conclusionWe describe one of the largest-to-date GS cohorts of ill infants, enriched for African American and rural patients. Our results show the utility of GS because it provides early-in-life detection of clinically relevant genetic variations not detected by current clinical genetic testing, particularly for infants exhibiting certain phenotypic features.
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