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Improving diagnostics of rare genetic diseases with NGS approaches
- 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.
- Subjects :
- National health
Healthcare system
0303 health sciences
medicine.medical_specialty
Epidemiology
business.industry
Public health
030305 genetics & heredity
Public Health, Environmental and Occupational Health
Timely diagnosis
Human genetics
Rare diseases
Clinical Practice
03 medical and health sciences
Next generation sequencing
Medicine
Original Article
business
Intensive care medicine
Diagnostics
Genetics (clinical)
030304 developmental biology
Rare disease
Subjects
Details
- Language :
- English
- ISSN :
- 18686001 and 1868310X
- Volume :
- 12
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Journal of Community Genetics
- Accession number :
- edsair.doi.dedup.....632011fe7d9ffb02307149d2207ad1e2