ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
A genome sequencing program for novel undiagnosed diseases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 1 of them a synthesis 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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- A systematic literature review of individuals' perspectives on privacy and genetic information in the United States.PloS one · 2018Pooled it
- Gain of function of a metalloproteinase associated with multiple myeloma, bicuspid aortic valve, and Von Hippel-Lindau syndrome.The Biochemical journal · 2022Article
- Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.The pharmacogenomics journal · 2022Article
- Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.Genome medicine · 2019Article
- Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings.Scientific reports · 2019Article
- Artificial Intelligence and Personalized Medicine.Cancer treatment and research · 2019Article
- The prevalence and impact of psychiatric symptoms in an undiagnosed diseases clinical program.PloS one · 2019Article
- A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.Journal of pediatric genetics · 2018Review
- Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.Human molecular genetics · 2018Article
- An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.NPJ genomic medicine · 2018Review
- SG-ADVISER mtDNA: a web server for mitochondrial DNA annotation with data from 200 samples of a healthy aging cohort.BMC bioinformatics · 2017Article
- Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?Frontiers in cardiovascular medicine · 2017Article
- Article
- Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.Annual review of genomics and human genetics · 2016Review
- Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Molecular genetics and metabolism · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
18 authors at 4 institutions in 1 country.
Funding
Abstract
purposeThe Scripps Idiopathic Diseases of Man (IDIOM) study aims to discover novel gene-disease relationships and provide molecular genetic diagnosis and treatment guidance for individuals with novel diseases using genome sequencing integrated with clinical assessment and multidisciplinary case review. Here we describe the operational protocol and initial results of the IDIOM study.
methodsA total of 121 cases underwent first-tier review by the principal investigators to determine whether the primary inclusion criteria were satisfied, 59 (48.8%) underwent second-tier review by our clinician-scientist review panel, and 17 patients (14.0%) and their family members were enrolled.
results60% of cases resulted in a plausible molecular diagnosis, and 18% of cases resulted in a confirmed molecular diagnosis. Two of three confirmed cases led to the identification of novel gene-disease relationships. In the third confirmed case a previously described but unrecognized disease was revealed. In all three confirmed cases a new clinical management strategy was initiated based on the genetic findings.
conclusionGenome sequencing provides tangible clinical benefit for individuals with idiopathic genetic disease, not only in the context of molecular genetic diagnosis of known rare conditions but also in cases where prior clinical information regarding a new genetic disorder is lacking.
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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.