ArticleNeurology2026
Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic Presentations.
Article in Neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
BACKGROUND AND
objectivesAdults with unexplained neurologic presentations often undergo extensive evaluations without timely diagnosis. Evidence supporting the clinical utility of rapid whole-genome sequencing (rWGS) in hospitalized adult populations remains limited. We evaluated the diagnostic yield of rWGS in adults hospitalized for unexplained neurologic manifestations and assessed clinical predictors of a phenotype-concordant genetic diagnosis.
methodsWe performed a retrospective cohort analysis of adult inpatients (≥18 years) undergoing rWGS as part of a structured inpatient clinical genomics implementation at Mayo Clinic between June 2022 and September 2025. Testing was performed after primary team consultation and subsequent assessment by a clinical geneticist. We prespecified a neurologic cohort restricted to patients admitted to the neurology inpatient service in whom presenting neurologic phenotypes were the primary indication for hospitalization and genomics consultation. Patients with non-neurologic primary indications were excluded from this study. The primary outcome was a phenotype-concordant genetic diagnosis on rWGS determined by genotype-phenotype assessment. Analytic objectives included identification of clinical predictors of a phenotype-concordant genetic diagnosis, and a secondary outcome was rWGS-attributable changes in clinical management. Patients with and without phenotype-concordant diagnoses were compared using univariable logistic regression for categorical candidate predictors (odds ratios [ORs] with 95% CIs) and the
resultsAmong 96 adults who completed rWGS, 57 (59.4%) met criteria for the neurologic cohort (mean age 53.0 ± 18.0 years; 35.1% female). Thirteen of 57 (22.8%) received a phenotype-concordant genetic diagnosis involving DISCUSSION: In this tertiary-care inpatient cohort, rWGS identified a phenotype-concordant genetic diagnosis in nearly one-quarter of adults. Limitations include single-center design and preselection through specialized consultation, which may limit generalizability.
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