All Wales Medical Genomics Service, Cardiff and Vale NHS Trust, Heath Hospital, Cardiff, UK.
Centre for Medical Education, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.
Hum Mutat. 2022 Nov;43(11):1507-1518. doi: 10.1002/humu.24466. Epub 2022 Sep 23.
The advancements made in next-generation sequencing (NGS) technology over the past two decades have transformed our understanding of genetic variation in humans and had a profound impact on our ability to diagnose patients with rare genetic diseases. In this review, we discuss the recently developed application of rapid NGS techniques, used to diagnose pediatric patients with suspected rare diseases who are critically ill. We highlight the challenges associated with performing such clinical diagnostics tests in terms of the laboratory infrastructure, bioinformatic analysis pipelines, and the ethical considerations that need to be addressed. We end by looking at what future developments in this field may look like and how they can be used to augment the genetic data to further improve the diagnostic rates for these high-priority patients.
在过去的二十年中，下一代测序（NGS）技术的进步改变了我们对人类遗传变异的理解，并极大地提高了我们诊断患有罕见遗传病患者的能力。在这篇综述中，我们讨论了最近开发的快速 NGS 技术在诊断患有严重疑似罕见病的儿科患者中的应用。我们强调了在实验室基础设施、生物信息分析管道以及需要解决的伦理考虑方面执行此类临床诊断测试所面临的挑战。最后，我们探讨了该领域未来的发展方向，以及如何利用这些发展来增加遗传数据，进一步提高这些高优先级患者的诊断率。
