Abstract: Although the prevalence and incidence rate of genetic rare diseases is low，many countries have taken the studies of genetic rare diseases as a national development strategy as it is difficult to cure，involves multiple organs and systems，and seriously endanger childrens health. The most effective way to prevent genetic rare diseases is to move the screening gateway to carrier screening and neonatal screening. Next generation sequencing （NGS），and multidisciplinary diagnosis and early treatment are effective means to improve early diagnosis and treatment. Precision medicine will create a new chapter in the diagnosis and treatment of genetic rare diseases.

Key words: genetic rare diseases, screening, diagnosis, treatment, early

摘要： 遗传罕见病患病率和发病率虽低，但常累及人体多器官、多系统且难以治愈，严重危害儿童健康，全球多个国家已将遗传罕见病研究作为国家发展战略。遗传罕见病筛查关口前移到携带者筛查和新生儿筛查，是预防遗传罕见病最有效的方法。新一代测序（NGS）、多学科诊疗，是提高早诊早治的有效手段，精准医疗将开创遗传罕见病诊疗新的篇章。

关键词: 遗传罕见病, 筛查, 诊断, 治疗, 早期