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Viewpoint | Next Generation Neurology

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics Current State and Future Prospects

Guy Helman, BS1,2; Joshua L. Bonkowsky, MD, PhD3; Adeline Vanderver, MD1,2
[+] Author Affiliations
1Department of Neurology, Children's National Medical Center, Washington, DC
2Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC
3Department of Pediatrics, University of Utah School of Medicine, Salt Lake City
JAMA Neurol. 2016;73(6):621-622. doi:10.1001/jamaneurol.2016.0168.
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This Viewpoint assesses the frequency of next-generation sequencing use among neurologists and identifies barriers in its implementation.

Rare diseases are an increasingly recognized source of health problems worldwide, affecting personal and community health and a creating a substantial financial burden. Although rare individually, rare disorders as a group are common, affecting 350 million people worldwide, and approximately 1 in 10 individuals in the United States.1 Next-generation sequencing (NGS)–based approaches have improved the recognition of rare diseases and facilitated diagnostic yield of their testing.

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