Rapid whole genome sequencing has proven effective in diagnosing nearly a quarter of hospitalized adults with unexplained neurologic symptoms. Findings presented at AAN 2026 suggest this advanced genetic testing can resolve complex inpatient neurology cases where standard evaluations fall short.
The analysis focused on 58 adults with complex neurological presentations. Among these patients, 24% received a definitive or likely genetic diagnosis after undergoing rapid whole genome sequencing. Ataxia and epilepsy were the most common symptoms observed.
This diagnostic yield offers significant clinical value, providing faster genetic explanations that can guide treatment, reduce uncertainty, and inform patient and family counseling. The results highlight the growing utility of rapid whole genome sequencing as a practical tool in adult neurology, particularly for unexplained or atypical neurological manifestations.