全面认识遗传检测

Towards a full understanding of genetic testing

遗传检测被定义为“以临床为目的,通过分析人类DNA、RNA、染色体、蛋白质和特定代谢物,进行遗传性疾病相关基因型、突变、表型或核型的检测”。20多年前关于遗传检测的定义全面准确、仍然有效。文章重点介绍遗传检测的定义及其内涵,着重探讨了遗传检测并非局限于DNA和染色体水平,多组学的检测将会发挥更大的作用;遗传咨询是遗传检测不可或缺的重要环节;遗传检测包括对单基因病,多基因病的检测;遗传检测不仅要服务已经患病的个人与家庭,更需要在疾病的预防上发挥更大的作用。全面认识遗传检测的定义和内涵,厘清遗传检测和遗传咨询的关系,有助于充分发挥基因组医学时代遗传检测的临床和社会功效性,满足民众对健康保障与服务的更大需求。

Genetic testing is defined as“the analysis of human DNA,RNA,chromosomes,proteins,and certain metabolites in order to detect heritable disease-related genotypes,mutations,phenotypes,or karyotypes for clinical purposes”This definition made more than 20 years ago.is still valid and accurate.This article mainly introduces the definition and connotation of genetic testing.We emphasize that genetic testing is not limited to test for changes in DNA or chromosome,a multiomics approach will play a bigger role.Genetic testing covers both monogenic and polygenic disorders,and genetic counseling is an essential component of the process.Disease prevention and prediction is going to be more important than disease diagnosis in future for genetic testing application.A comprehensive understating of the nature and content of genetic testing will help to facilitate the implementation of Genomic Medicine by demonstrating its clinical and social utilities.