Next-generation sequencing in childhood disorders

Genetics has been revolutionised by recent technologies. The latest addition to these advances is next-generation sequencing, which is set to transform clinical diagnostics in every branch of medicine. In the research arena this has already been instrumental in identifying hundreds of novel genetic...

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Bibliographic Details
Published in:	Archives of Disease in Childhood 2014-03, Vol.99 (3), p.284-290
Main Authors:	Schnekenberg, Ricardo Parolin, Németh, Andrea H
Format:	Article
Language:	eng
Subjects:	Biological and medical sciences Child Children Clinical pathology Coding Complications and side effects Cost Effectiveness Development and progression Diagnosis Diseases General aspects Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Testing - methods Humans Medical sciences Miscellaneous Mutation Pediatric diseases Polymorphism, Genetic Prevention and actions Public health. Hygiene Public health. Hygiene-occupational medicine Risk factors Sequence Analysis, DNA - methods
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Summary:	Genetics has been revolutionised by recent technologies. The latest addition to these advances is next-generation sequencing, which is set to transform clinical diagnostics in every branch of medicine. In the research arena this has already been instrumental in identifying hundreds of novel genetic syndromes, making a molecular diagnosis possible for the first time in numerous refractory cases. However, the pace of change has left many clinicians bewildered by new terminology and the implications of next-generation sequencing for their clinical practice. The rapid developments have also left many diagnostic laboratories struggling to implement these new technologies with limited resources. This review explains the basic concepts of next-generation sequencing, gives examples of its role in clinically applied research and examines the challenges of its introduction into clinical practice.
ISSN:	0003-9888 1468-2044