出生缺陷研究的再思考

Reflection on Birth Defect Research

出生缺陷严重影响中国出生人口素质,成为重要的人口健康问题。科学经济有效地降低出生缺陷发生风险及其疾病负担,需加强出生缺陷预防的基础性和应用性研究。出生缺陷的科学研究应以提高高危高发、致愚致残性出生缺陷的可控性为核心,重点发展以人群为基础的预防控制理论和技术方法,达到有效降低出生缺陷所致人口疾病负担的目标。基础性研究方面:继续研究中国重大出生缺陷发生的遗传基础和分子机制的同时,采用系统生物学观点及宏观和微观研究结合的模式,加强出生缺陷监测和前瞻性队列研究;加速认识遗传、环境、遗传-环境交互作用在重大出生缺陷发生中的关键作用;识别重大出生缺陷的主要环境危险因素、遗传易感性、表观遗传改变,深入系统研究发生机制。应用技术和预防控制研究方面:遵循预防为主、防治并重的原则,对出生缺陷预防、筛查、诊断、咨询、治疗等关键技术进行应用系统研究;发展适合中国国情、以需求为导向的出生缺陷防治技术体系,包括孕前风险评估和咨询技术、出生缺陷一级预防技术、重大出生缺陷产前筛查和诊断技术、遗传代谢性疾病新生儿筛查技术及重大先天性畸形的早期诊疗技术。加强出生缺陷预防的社会科学研究及防治模式研究,为成果转化应用及实施国家出生缺陷预防行动计划打基础。

Birth defects are a population health problem affecting the quality of birth population in China.Challenges exist with respect to reducing the risk of birth defects and the consequential disease burden in a cost-effective way.Therefore fundamental and applied researches to prevent birth defects should be further strengthened.These researches are expected to closely focus on the preventability of birth defects,such disease with a high risk,high prevalence,and disabling nature among China population;and development of population-based theoretic and technical countermeasures,in order to achieve the goals to effectively reduce the disease burden of population with birth defects.For fundamental researches,while continuing to study the genetic fundament and molecular mechanisms of major birth defects,we should employ a systematic biological point of view and the use of macro-and micro-studies combination,to strengthen the surveillance of birth defects and conduct prospective cohort studies;improve our understanding of the role of genetic factors,environmental factors,and their interaction in the occurrence of birth defects;identify the major environmental risk factors,genetic susceptibility,and epigenetic changes;and develop in-depth studies about the mechanism of birth defects.For the application of technology in prevention and control of birth defects,we should uphold the principle of prevention and the strategy of focusing on both prevention and treatment,targeting primary,secondary,and tertiary prevention schemes,to conduct comprehensive researches on birth defects prevention,screening,diagnosis,counseling,treatment and other applications of crucial technologies;and develop appropriate,demand-oriented systems to prevent and control in China setting,including pre-pregnancy risk assessment and counseling techniques,preventive technologies in primary prevention scheme of birth defect,prenatal screening and diagnostic techniques for major birth defects,screening techniques for genetic metabolic diseases among newborns,and early diagnosis and treatment technology for major congenital abnormalities.Meanwhile,we should strengthen the social science research and explore modeling of prevention and treatment of birth defects,in order to translate research results into practice and promote the implementation of national action plan for birth defects prevention.