Rapid exome sequencing to aid diagnostics in genetic disorders: Implementation and challenges in the Singapore context

Abstract

Dear Editor, There is a high burden of genetic disorders in patients admitted to the intensive care unit (ICU), ranging from 45–56%,1,2 and delayed definitive diagnoses with a long diagnostic odyssey often contribute to increased healthcare costs.3 The application of clinical exome sequencing in ICU has been gaining traction, where short turnaround time (usually within