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Improving diagnostics of rare genetic diseases with NGS approaches

Authors :
Mateja Vinkšel
Borut Peterlin
Karin Writzl
Aleš Maver
Source :
Journal of Community Genetics
Publication Year :
2021
Publisher :
Springer Berlin Heidelberg, 2021.

Abstract

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.

Details

Language :
English
ISSN :
18686001 and 1868310X
Volume :
12
Issue :
2
Database :
OpenAIRE
Journal :
Journal of Community Genetics
Accession number :
edsair.doi.dedup.....632011fe7d9ffb02307149d2207ad1e2