Clinical exome sequencing in neurologic disease
Brent L Fogel1, Saty Satya-Murti1, Bruce H Cohen1
1Program in Neurogenetics and Departments of Neurology and Human Genetics (BLF), David Geffen School of Medicine, University of California Los Angeles; Health Policy Consultant (SS-M), Santa Maria, CA; and NeuroDevelopmental Science Center and the Department of Pediatrics (BHC), Akron Children's Hospital, OH.
Neurology. Clinical Practice
|April 23, 2016
Summary
Clinical exome sequencing (CES) offers a comprehensive genetic analysis for neurologic diseases. It is a cost-effective diagnostic tool for patients with complex symptoms, improving diagnostic yield and potentially replacing sequential genetic tests.
Area of Science:
- Genomics
- Neurology
- Clinical Diagnostics
Background:
- Next-generation clinical exome sequencing (CES) analyzes all protein-coding genes.
- Current use of CES in neurology is limited by a lack of usage frameworks and payer coverage.
Conclusions:
- CES is a valuable tool for diagnosing neurologic diseases with broad genetic differential diagnoses.
- Establishing frameworks for appropriate use and payer coverage is crucial for widespread adoption.
- This review provides guidance for clinicians and payers regarding CES in neurologic practice.
