Computational Biology Division, Integrative Biomedical Sciences, University of Cape Town, Cape Town, South Africa.
Wellcome Centre for Infectious Disease Research in Africa, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town, Cape Town, South Africa.
BMC Med Genomics. 2019 Nov 4;12(1):152. doi: 10.1186/s12920-019-0604-6.
Genome data from African population can substantially assist the global effort to identify aetiological genetic variants, but open access to aggregated genomic data from these populations poses some significant risks of community- and population- level harms. A recent amendment to National Institutes of Health policy, following various engagements with predominantly North American scientists, requires that genomic summary results must be made available openly on the internet without access oversight or controls.The policy does recognise that some sensitive, identifiable population groups might be harmed by such exposure of their data, and allows for exemption in these cases. African populations have a very wide and complex genomic landscape, and because of this diversity, individual African populations may be uniquely re-identified by their genomic profiles and genome summary data. Given this identifiability, combined with additional vulnerabilities such as poor access to health care, socioeconomic challenges and the risk of ethnic discrimination, it would be prudent for the National Institutes of Health to recognise the potential of their current policy for community harms to Africans; and to exempt all African populations as sensitive or vulnerable populations with regard to the unregulated exposure of their genome summary data online.Three risk-mitigating mechanisms for sharing genome summary results from African populations to inform global genomic health research are proposed here; namely use of the Beacon Protocol developed by the Global Alliance for Genomics and Health, user access control through the planned African Genome Variation Database, and regional aggregation of population data to protect individual African populations from re-identification and associated harms.
非洲人群的基因组数据可以极大地帮助全球努力识别病因遗传变异,但公开获取这些人群的聚合基因组数据存在一些重大的社区和人群层面伤害风险。在与主要来自北美的科学家进行了各种接触后,美国国立卫生研究院最近对其政策进行了修订,要求基因组汇总结果必须在互联网上公开提供,无需访问监督或控制。该政策确实认识到,这些数据的暴露可能会对一些敏感的、可识别的人群造成伤害,并允许在这些情况下豁免。非洲人群的基因组景观非常广泛和复杂,由于这种多样性,个体非洲人群可能会因其基因组特征和基因组汇总数据而被独特地重新识别。考虑到这种可识别性,再加上医疗保健获取不足、社会经济挑战和种族歧视的风险等额外脆弱性,美国国立卫生研究院有必要认识到其当前政策可能对非洲人造成社区伤害,并将所有非洲人群视为敏感或脆弱人群,以避免其基因组汇总数据在网上不受监管地暴露。这里提出了从非洲人群共享基因组汇总结果以告知全球基因组健康研究的三种风险缓解机制;即使用全球基因组健康联盟开发的灯塔协议、通过计划中的非洲基因组变异数据库进行用户访问控制,以及对人群数据进行区域聚合,以保护个体非洲人群免受重新识别和相关伤害。