Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):254-261. doi: 10.1002/ajmg.c.31690. Epub 2019 Feb 23.
The United Nations General Assembly adopted the 2030 Agenda for Sustainable Development in November 2015 which included a set of 17 measurable "sustainable development goals" (SDGs). The SDGs included targets to end preventable deaths of newborns and children under 5 years of age by 2030, universal health care coverage, reduction of premature mortality from noncommunicable diseases (NCDs) by 33% as well as support the development and research for medicines for both communicable and NCDs. Although some successes were achieved in combating communicable diseases and improved childhood mortality rates, health systems in Asia are generally characterized by lack of accurate epidemiological information on congenital disorders, lack of human and financial resources, and inadequate focus on public health strategies to ensure targeted interventions, low level knowledge on congenital disorders amongst the community and healthcare providers and the ethical dilemma of managing rare congenital disorders in an environment of low national health expenditures. These bottlenecks must be addressed systematically and interventions such as the use of innovative epidemiological tools to overcome lack of data, increased efforts to standardize rare disease nomenclature and classification and renewed interest in birth defects registries by countries in the region must be considered. Targeted curative and public health approaches currently used in thalassaemia and neural tube defects may be used for other congenital disorders in Asian countries. The implementation of congenital disorders-related research, prevention, care, and treatment delivery services must be integrated into existing health systems in order to be effective to achieve the targets of SDG2030.
联合国大会于 2015 年 11 月通过了 2030 年可持续发展议程，其中包括一套可衡量的 17 项“可持续发展目标”（SDGs）。SDGs 包括到 2030 年消除可预防的新生儿和 5 岁以下儿童死亡、全民健康覆盖、将非传染性疾病（NCDs）的过早死亡率减少 33%以及支持传染性疾病和 NCDs 药物的开发和研究等目标。尽管在防治传染病和降低儿童死亡率方面取得了一些成功，但亚洲的卫生系统普遍存在缺乏先天性疾病准确流行病学信息、人力和财力资源不足以及对公共卫生战略关注不足等问题，无法确保有针对性的干预措施，社区和医疗保健提供者对先天性疾病的了解程度较低，以及在国家卫生支出水平较低的情况下管理罕见先天性疾病的伦理困境。这些瓶颈必须系统地加以解决，并考虑采用创新的流行病学工具来克服数据不足、加大努力使罕见疾病命名和分类标准化以及该地区各国重新对出生缺陷登记册产生兴趣等干预措施。目前在治疗地中海贫血症和神经管缺陷方面使用的有针对性的治疗和公共卫生方法可用于亚洲国家的其他先天性疾病。为了有效实现 2030 年可持续发展目标，必须将先天性疾病相关的研究、预防、护理和治疗服务的实施纳入现有的卫生系统。
