Abstract

Clinical rapid genome sequencing (rGS), the sequencing and interpretation of variation in a patient's genome within ∼1 week, has helped to establish diagnoses and direct patient care in numerous studies, but has largely been restricted to an academic setting. In this volume of The Journal, Beuschel et al demonstrate that rGS is not only available in a community hospital but also directly affects patient care in this setting. In their retrospective analysis of 24 patients where a genetic diagnosis was suspected, or there was no clear explanatory cause of illness, medical management was altered in 67% of subjects as a result of rGS.

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