ArticleJournal of genetic counseling2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Article in Journal of genetic counseling, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 36 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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
36 citing papers in PubMed.
- Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance.Current gene therapy · 2026Review
- Artificial intelligence-assisted clinical exome sequencing: Insights and outcomes from 822 pediatric diagnoses.Genetics in medicine open · 2026Article
- MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission.NPJ genomic medicine · 2025Article
- Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders.Neurology · 2025Observational
- Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.Kidney international reports · 2025Review
- Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.Molecular vision · 2025Article
- Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.NPJ digital medicine · 2024Article
- Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.Neurology. Genetics · 2024Article
- Improving access to exome sequencing in a medically underserved population through the Texome Project.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.Molecular genetics & genomic medicine · 2024Article
- A Rare Presentation of Aggressive Renal Cell Carcinoma and the Utility of Early Molecular Testing in Rapidly Progressing Malignancies: A Case Report.The oncologist · 2023Article
- Review
- Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.Research square · 2023Article
- Article
- Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital Immunodeficiencies.The journal of allergy and clinical immunology. In practice · 2023Article
- Black Patients Equally Benefit From Renal Genetics Evaluation but Substantial Barriers in Access Exist.Kidney international reports · 2023Article
- Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023Review
- Advancing Understanding of Inequities in Rare Disease Genomics.Clinical therapeutics · 2023Article
- Insurance denials and diagnostic rates in a pediatric genomic research cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
Corrections and comments
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Authors and funding
30 authors.
Funding
Abstract
backgroundDespite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. The diagnostic yield and resulting clinical actions of WES for patients who previously faced insurance coverage barriers have not yet been explored.
methodsWe performed a retrospective descriptive analysis of clinical WES outcomes for patients facing insurance coverage barriers prior to clinical WES and who subsequently enrolled in the Undiagnosed Diseases Network (UDN). Clinical WES was completed as a result of participation in the UDN. Payer type, molecular diagnostic yield, and resulting clinical actions were evaluated.
resultsSixty-six patients in the UDN faced insurance coverage barriers to WES at the time of enrollment (67% public payer, 26% private payer). Forty-two of 66 (64%) received insurance denial for clinician-ordered WES, 19/66 (29%) had health insurance through a payer known not to cover WES, and 5/66 (8%) had previous payer denial of other genetic tests. Clinical WES results yielded a molecular diagnosis in 23 of 66 patients (35% [78% pediatric, 65% neurologic indication]). Molecular diagnosis resulted in clinical actions in 14 of 23 patients (61%).
conclusionsThese data demonstrate that a substantial proportion of patients who encountered insurance coverage barriers to WES had a clinically actionable molecular diagnosis, supporting the notion that WES has value as a covered benefit for patients who remain undiagnosed despite objective clinical findings.
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