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Viewpoint |

The Future of Next-Generation Sequencing in Neurology

Jean-Baptiste LePichon, MD, PhD1,2; Carol J. Saunders, PhD2,3; Sarah E. Soden, MD2,3
[+] Author Affiliations
1Department of Pediatrics, Children’s Mercy Hospital, Kansas City, Missouri
2School of Medicine, University of Missouri–Kansas City, Kansas City
3Center for Pediatric Genomic Medicine, Children’s Mercy Hospital, Kansas City, Missouri
JAMA Neurol. 2015;72(9):971-972. doi:10.1001/jamaneurol.2015.1076.
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This Viewpoint reports on the development of next-generation sequencing and its transformative capacity in health care, which stems in part from the synergism between translational research and clinical programs.

The genetic contribution to the neurologic disease burden is wide ranging and ubiquitous. Most conspicuous are the distinctly mendelian disorders such as channelopathies, inherited ataxias, and inborn errors of metabolism; however, the contribution of genetics to common complex disorders such as cerebral palsy is increasingly evident.1 Furthermore, acquired conditions such as stroke, brain tumor, and central nervous system infections occur in the context of disparate genetic susceptibilities, and treatment of both inherited and acquired central nervous system disease can be influenced by a patient’s pharmacogenomic profile. Eighty-four percent of human genes are expressed in the human brain,2 so it comes as no surprise that neurologists have been early adopters of new genetic diagnosis modalities.

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