Next-generation community genetics for low- and middle-income countries
Next-generation community genetics for low- and middle-income countries
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DOI：
10.1186/gm324
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发表时间：
2012-03-29
期刊：
影响因子：
12.3
通讯作者：
Saunders, Carol J.
中科院分区：
文献类型：
--
作者：
Kingsmore, Stephen F.;Lantos, John D.;Saunders, Carol J.
世界卫生组织最近的一份报告呼吁在低收入和中等收入国家（LMIC）实施社区遗传学计划。除了提供诊断和咨询等遗传学服务外，他们的重点是在人口层面预防先天性疾病和遗传疾病。拟议的策略包括新生儿筛查和人群筛查以检测携带者，此外还通过消除环境因素来降低先天性疾病和遗传病的发生率。在本文中，我们考虑了此类测试对全球健康的潜在影响，并强调了下一代测序（NGS）和生物信息学方法与其实施的近期相关性。社区遗传学项目 NGS 的关键属性是同质方法、疾病和样本的高度多重性以及新技术成本的迅速下降。在不久的将来，我们估计，适当使用特定人群的测试组合，治疗 10 种孟德尔疾病的成本可能低至 10 美元，并且可能对目前影响全球 2% 儿童的疾病产生重大影响。然而，在中低收入国家成功部署这项技术创新需要对人类生命具有高度价值、深思熟虑的实施和个人决策的自主权，并辅以适当的遗传咨询和社区教育。
A recent report by the World Health Organization calls for implementation of community genetics programs in low-and middle-income countries (LMICs). Their focus is prevention of congenital disorders and genetic diseases at the population level, in addition to providing genetics services, including diagnosis and counseling. The proposed strategies include both newborn screening and population screening for carrier detection, in addition to lowering the incidence of congenital disorders and genetic diseases through the removal of environmental factors. In this article, we consider the potential impact of such testing on global health and highlight the near-term relevance of next-generation sequencing (NGS) and bioinformatic approaches to their implementation. Key attributes of NGS for community genetics programs are homogeneous approach, high multiplexing of diseases and samples, as well as rapidly falling costs of new technologies. In the near future, we estimate that appropriate use of population-specific test panels could cost as little as $10 for 10 Mendelian disorders and could have a major impact on diseases that currently affect 2% of children worldwide. However, the successful deployment of this technological innovation in LMICs will require high value for human life, thoughtful implementation, and autonomy of individual decisions, supported by appropriate genetic counseling and community education.