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Review
. 2016 Apr;6(2):164-176.
doi: 10.1212/CPJ.0000000000000239.

Clinical exome sequencing in neurologic disease

Brent L Fogel  1 , Saty Satya-Murti  1 , Bruce H Cohen  1
Affiliations
Review

Clinical exome sequencing in neurologic disease

Brent L Fogel et al. Neurol Clin Pract. 2016 Apr.

Erratum in

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.

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Figures

Figure
Figure. Clinical exome sequencing workflow
See this image and copyright information in PMC

References

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