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.

中文翻译：

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儿科快速基因组测序

过去二十年，下一代测序 (NGS) 技术取得的进步改变了我们对人类遗传变异的理解，并对我们诊断罕见遗传病患者的能力产生了深远影响。在这篇综述中，我们讨论了最近开发的快速 NGS 技术的应用，用于诊断疑似罕见疾病的危重儿科患者。我们强调了在实验室基础设施、生物信息学分析管道和需要解决的伦理考虑方面执行此类临床诊断测试相关的挑战。最后，我们将研究该领域的未来发展情况，以及如何使用它们来增加遗传数据，以进一步提高这些高优先级患者的诊断率。