ACMG基因变异分类指南在聋病遗传咨询临床教学中的应用

Application of the ACMG Guidelines for the Interpretation of Sequence Variants in Clinical Genetic Counseling Teaching for Hearing Loss

遗传咨询在聋病的病因学诊断与决策中起到越来越重要的作用。随着高通量基因测序技术的发展,越来越多临床医生提出了基因检测的需求,并期待通过基因结果为患者进行病因学诊断和临床精准分型。医生对于基因检测报告的准确解读是进行临床决策的关键,但现有的遗传咨询和基因学诊断还存在脱节现象。美国医学遗传学与基因组学学会(The American College of Medical Genetics and Genomics, ACMG)制定了关于序列变异解读的系列指南,为聋病基因诊断和遗传咨询提供了重要的依据,尤其是在聋病遗传咨询的临床教学中,应用ACMG指南(2015)与具体聋病遗传咨询的案例结合示教,有助于耳科医师了解基因变异的常规分类原则,并对基因测序结果与聋病表型异质性进行合理的分析和解释,从而帮助其有效开展聋病遗传咨询工作。

Genetic counselling plays an increasingly important role in the inherited basis and decision making of hearing loss. With the rapid advances in high-throughput gene sequencing technology, many clinicians put forward the need for genetic testing, and expect to make etiological diagnosis and accurate clinical typing of patients through the molecular genetic results. Therefore, it is important for genetic counsellors to undertake a genetic evaluation through transparent and sensitive explanation of genetic test reports and make clinical decisions based on medical information. Effective genetic counselling requires a knowledge of the principles for the interpretation of gene variations. The American College of Medical Genetics and Genomics(ACMG) developed a series of guidelines fort the interpretation of sequence variations, which provide an important basis for genetic diagnosis and counseling of hearing loss. Especially in clinical teaching of hearing loss genetic counseling, applied the 2015 ACMG guide and concrete case combining with teaching the disease genetic counseling and help otology doctor understand genetic variations of general classification principle,and the gene sequencing results and the disorder’s phenotype heterogeneity reasonable analysis and explanation, to facilitate decision-making and aim to preventing genetic hearing loss from being passed on in their family.