遗传病再发风险评估教学中的贝叶斯分析

Bayesian Analysis in Teaching of Recurrence Assessment of Genetic Diseases

在遗传病(特别是单基因遗传病)的再发风险评估中,贝叶斯分析早已成为业界通行的方法,然而贝叶斯分析在医学遗传学教学中并未得到足够的重视。相较于仅根据孟德尔定律计算,贝叶斯分析能够更充分地利用已知信息,得到更准确的结果。在遗传病再发风险评估教学中,加强对贝叶斯分析方法的介绍,能够让学生具备充分利用各种信息的意识与方法,同时也能增进学生对相关知识的理解。文章从简单的例子引入贝叶斯分析表格,探讨教学中加强对贝叶斯分析方法的介绍的必要性与可行性。比较贝叶斯分析与仅根据孟德尔定律计算的结果,让学生建立充分利用系谱信息的意识;通过例子让学生掌握整合基因检测结果的方法。

Bayesian analysis has been widely used in recurrence assessment of genetic disorders,especially in monogenetic disorders.However,it is not sufficiently addressed in teaching practice of medical genetics.With Bayesian analysis,one can use information sufficiently and thus get a more accurate assessment.More introducing of Bayesian.analysis methods is necessary in demonstrating the importance and method of integrating all information in recurrence assessment,and also helpful for the understanding of relative concepts.Here,the authors suggest that more introducing of Bayesian analysis in medical genetics is necessary and feasible.Bayesian analysis table is introduced with a simple example.The importance is showing by comparing of the results of Bayesian analysis and calculation with Mendelian law only.The integrating of genetic testing information is also introduced with an example.