Improving diagnostics of rare genetic diseases with NGS approaches

According to a rough estimate, one in fifteen people worldwide is affected by a rare disease. Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare diseases is still challenging. Introduction of novel methods based on next-generation sequencing (NGS) technology o...

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Bibliographic Details
Published in:Journal of community genetics 2021-04, Vol.12 (2), p.247-256
Main Authors: Vinkšel, Mateja, Writzl, Karin, Maver, Aleš, Peterlin, Borut
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Diagnosis
Epidemiology
Gene Function
Gene Therapy
Human Genetics
Next-generation sequencing
Original
Original Article
Public Health
Rare Diseases
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Summary:According to a rough estimate, one in fifteen people worldwide is affected by a rare disease. Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare diseases is still challenging. Introduction of novel methods based on next-generation sequencing (NGS) technology offers a successful diagnosis of genetically heterogeneous disorders, even in case of unclear clinical diagnostic hypothesis. However, the application of novel technology differs among the centres and health systems significantly. Our goal is to discuss the impact of the implementation of NGS in the diagnosis of rare diseases and present advantages along with challenges of diagnostic approach. Systematic implementation of NGS in health systems can significantly improve the access of patients with rare diseases to diagnosis and reduce the dependence of national health systems for cross-border collaboration.
ISSN:1868-310X
1868-6001
DOI:10.1007/s12687-020-00500-5