Morris Huw R, Houlden Henry, Polke James
Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK
Department of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, UK.
Pract Neurol. 2021 May 10;21(4):322-7. doi: 10.1136/practneurol-2020-002561.
The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential difficulties in annotating new genetic variants for individual patients and families. Here we outline the steps in organising whole-genome sequencing for patients in the neurology clinic and emphasise that close liaison between the clinician and the laboratory is essential.
全基因组测序的成本已迅速下降，并且越来越多地应用于大规模临床研究项目，并被引入常规临床护理中。这将为遗传病患者带来快速诊断，但由于人类基因组的多样性以及为个体患者和家庭注释新的基因变异存在潜在困难，也带来了不确定性。在此，我们概述了在神经科诊所为患者组织全基因组测序的步骤，并强调临床医生与实验室之间的密切联络至关重要。
