Wonkam A, Muna W, Ramesar R, Rotimi C N, Newport M J
Faculty of Medicine and Biomedical Sciences, University of Yaounde I, Yaounde, Cameroon.
Public Health Genomics. 2010;13(7-8):492-4. doi: 10.1159/000294171. Epub 2010 Mar 23.
Stakeholders who are committed to bridge the gap in genetics services need to be aware of current initiatives in sub-Saharan Africa.
We reviewed selected experiences from African geneticists that led to specific recommendations.
The initiation of prenatal diagnosis of sickle cell anaemia founded the first medical genetic service in Cameroon. There remains a need for international collaborative effort to overcome the lack of human, technical and financial resources around the practice of medical genetics in Africa. The African Society of Human Genetics, Wellcome Trust and NIH have recently proposed a model on how to fully engage Africa in genomics. It includes a 'Health and disease' phase I: use of the case-control design to study genetic and epidemiological determinants of 7 important diseases in Africa, and a 'Genetic variation' phase II: comprehensive documentation of genetic variations in 100 carefully selected ethnic groups across Africa. The strategy would require the development of: (1) clinical phenotyping centres, (2) molecular phenotyping centres, (3) genotyping and sequencing capability, (4) data centres, and (5) a bio-repository in Africa.
Governments and international health agencies need to recognise that genetics is important to the global medical community. The initiatives of African geneticists need advocacy and encouragement from the international community.
致力于弥合基因服务差距的利益相关者需要了解撒哈拉以南非洲地区目前的举措。
我们回顾了非洲遗传学家的一些特定经历，并据此提出了具体建议。
镰状细胞贫血产前诊断的开展在喀麦隆建立了首个医学遗传服务。仍需要国际合作努力，以克服非洲医学遗传学实践中人力、技术和资金资源匮乏的问题。非洲人类遗传学会、惠康信托基金会和美国国立卫生研究院最近提出了一个让非洲全面参与基因组学研究的模式。它包括一个“健康与疾病”第一阶段：采用病例对照设计研究非洲7种重要疾病的遗传和流行病学决定因素，以及一个“基因变异”第二阶段：全面记录非洲100个精心挑选的族群的基因变异情况。该战略需要建立：（1）临床表型分析中心，（2）分子表型分析中心，（3）基因分型和测序能力，（4）数据中心，以及（5）非洲的生物样本库。
各国政府和国际卫生机构需要认识到遗传学对全球医学界很重要。非洲遗传学家的举措需要国际社会的倡导和鼓励。
