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引用次数: 0
摘要
全基因组测序(WGS)近来已成为许多疑似遗传性神经系统疾病的一线基因检测方法。虽然全基因组测序的诊断能力数不胜数,但与任何检测一样,它也有其局限性。临床医生应了解 WGS 在哪些方面极其可靠(检测单核苷酸变异),在哪些方面可靠性更高(检测拷贝数变异和小重复扩增),以及在哪些方面可能会错过/误读变异(大重复扩增、平衡结构变异或线粒体 DNA 低异质性变异)。生物信息学技术和虚拟基因面板在不断发展,因此了解正在检测的基因和变异类型非常重要;目前国家卫生服务基因组医学服务 WGS 提供的分析比早期迭代的 10 万基因组计划分析还要多。在诊断不确定的情况下,鼓励临床医生和实验室之间密切沟通,最好是通过多学科团队会议进行沟通。
Whole-genome sequencing (WGS) has recently become the first-line genetic investigation for many suspected genetic neurological disorders. While its diagnostic capabilities are innumerable, as with any test, it has its limitations. Clinicians should be aware of where WGS is extremely reliable (detecting single-nucleotide variants), where its reliability is much improved (detecting copy number variants and small repeat expansions) and where it may miss/misinterpret a variant (large repeat expansions, balanced structural variants or low heteroplasmy mitochondrial DNA variants). Bioinformatic technology and virtual gene panels are constantly evolving, and it is important to know what genes and what types of variant are being tested; the current National Health Service Genomic Medicine Service WGS offers more than early iterations of the 100 000 Genomes Project analysis. Close communication between clinician and laboratory, ideally through a multidisciplinary team meeting, is encouraged where there is diagnostic uncertainty.
期刊介绍:
The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.