Human Genetics

, Volume 132, Issue 7, pp 721–734

Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective

Review Paper

DOI: 10.1007/s00439-013-1287-2

Cite this article as:
Foo, J.N., Liu, J. & Tan, EK. Hum Genet (2013) 132: 721. doi:10.1007/s00439-013-1287-2


Neurological diseases encompass a broad, heterogeneous group of disorders ranging from pediatric neurodevelopmental diseases to late-onset neurodegenerative diseases, most of which are poorly understood and few of which are curable. Most of these diseases have a genetic basis and thus are expected to be amenable to genetic or genomic analysis by next-generation sequencing (NGS). While the advancement of contemporary technologies (such as NGS) is exciting, translating this tool into actual benefit for patients and clinicians can be challenging. In a clinical setting, a sequencing test that is fast, non-invasive, cheap and with perfect specificity would be ideal. However, in practice, there are several hurdles and caveats to consider even before a NGS diagnostic testing can be optimally applied. Proper definition of clinical phenotype, selection of the most appropriate subjects and the clinical setting, optimization of both sensitivity and specificity of the test, evaluation of the availability of the infrastructure and expertise, and consideration of economic, ethical and legal issues are vital in the final application of NGS diagnostic screening in the clinics.

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  1. 1.Human Genetics, Genome Institute of Singapore, A*STARSingaporeSingapore
  2. 2.Department of Neurology, National Neuroscience InstituteDuke-National University of Singapore Graduate Medical School, Singapore General HospitalSingaporeSingapore