准确的基因变异解读和遗传咨询在罕见病精准医学中的重要作用

 精准医学本身是希望运用新型客观的诊断方法从个体病人基因组数据库中鉴定致病突变，常应用于遗传病重要组成部分的罕见病诊断中，更是用于出生缺陷的预防方面。与人类疾病相关的致病突变包括蛋白编码序列变异、非编码序列变异和拷贝数变异等多种类型，而与人类疾病相关的基因突变在许多时候往往是新发的或是非常罕见的。因此，准确的基因变异解读和遗传咨询在罕见病精准医学中的作用愈加重要而更具挑战性。本文阐释了基因变异解读和遗传咨询的内涵，同时结合部分案例综述了这两方面在罕见病精准医疗中的重要作用。

Importance of accurate variant interpretation and genetic counseling in precision medicine for rare diseases

The practice of precision medicine is quickly accepted and popularized as a new frontier for genetic disease diagnosis and management, particularly in diagnosing rare diseases, especially, genetic diseases and birth defects.The variety of mutation types associated with rare diseases include the protein coding sequence variations, the noncoding variations or the copy number variations, some of which are rare or de novo, in a broad mutation spectrum. Based on various case analyses, this paper shows the challenge and the importance of an accurate genetic variant interpretation and the standard follow-up genetic counseling service in providing the precision medicine for patients of rare diseases.