Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)

Abstract

Most rare diseases are genetic diseases. Due to the diversity of rare diseases and the high likelihood of patients with rare diseases to be undiagnosed or misdiagnosed, it is not unusual that these patients undergo a long diagnostic odyssey before they receive a definitive diagnosis. This situation presents a clear need to set up a dedicated clinical service to end the diagnostic odyssey of patients with rare diseases.

Keywords

• clinical whole exome sequencing
• diagnostic odyssey
• rare diseases