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:English
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
Genetics
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
DOI:10.1136/archdischild-2012-302881