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April 2016; 6 (2) Review

Clinical exome sequencing in neurologic disease

Brent L. Fogel, Saty Satya-Murti, Bruce H. Cohen
First published March 21, 2016, DOI: https://doi.org/10.1212/CPJ.0000000000000239
Brent L. Fogel
Program 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.
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Saty Satya-Murti
Program 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.
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Bruce H. Cohen
Program 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.
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Citation
Clinical exome sequencing in neurologic disease
Brent L. Fogel, Saty Satya-Murti, Bruce H. Cohen
Neurol Clin Pract Apr 2016, 6 (2) 164-176; DOI: 10.1212/CPJ.0000000000000239

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This article has a correction. Please see:

  • Clinical exome sequencing in neurologic disease: AAN model coverage policy - August 01, 2016
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Abstract

Purpose of review: The landscape of genetic diagnostic testing has changed dramatically with the introduction of next-generation clinical exome sequencing (CES), which provides an unbiased analysis of all protein-coding sequences in the roughly 21,000 genes in the human genome. Use of this testing, however, is currently limited in clinical neurologic practice by the lack of a framework for appropriate use and payer coverage.

Recent findings: CES can be cost-effective due to its high diagnostic yield in comparison to other genetic tests in current use and should be utilized as a routine diagnostic test in patients with heterogeneous neurologic phenotypes facing a broad genetic differential diagnosis. CES can eliminate the need for escalating sequences of conventional neurodiagnostic tests.

Summary: This review discusses the role of clinical exome sequencing in neurologic disease, including its benefits to patients, limitations, appropriate use, and billing. We also provide a reference template policy for payer use when considering testing requests.

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

  • Supplemental data at Neurology.org/cp

  • Received September 27, 2015.
  • Accepted December 15, 2015.
  • © 2016 American Academy of Neurology
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