Vinkšel Mateja, Writzl Karin, Maver Aleš, Peterlin Borut
Clinical Institute of Genomic Medicine, University medical Centre Ljubljana, Zaloška cesta 7, Ljubljana, Slovenia.
J Community Genet. 2021 Apr;12(2):247-256. doi: 10.1007/s12687-020-00500-5. Epub 2021 Jan 15.
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.
据粗略估计，全球每15人中就有1人受到罕见病的影响。因此，罕见病在临床实践中很常见；然而，罕见病的及时诊断仍然具有挑战性。基于下一代测序（NGS）技术的新方法的引入为基因异质性疾病提供了成功的诊断，即使在临床诊断假设不明确的情况下也是如此。然而，新技术在各中心和卫生系统之间的应用差异很大。我们的目标是讨论NGS在罕见病诊断中的实施影响，并介绍诊断方法的优势和挑战。在卫生系统中系统地实施NGS可以显著改善罕见病患者的诊断机会，并减少国家卫生系统对跨境合作的依赖。
