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本土基因组数据库:实用考虑与文化背景。

Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts.

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Genome Sciences Center, British Columbia Cancer Agency, Vancouver, BC, Canada.

出版信息

Front Public Health. 2020 Apr 24;8:111. doi: 10.3389/fpubh.2020.00111. eCollection 2020.

Abstract

The potential to grow genomic knowledge and harness the subsequent clinical benefits has escalated the building of background variant databases (BVDs) for genetic diagnosis across the globe. Alongside the upsurge of this precision medicine, potential benefits have been highlighted for both rare genetic conditions and other diagnoses. However, with the ever-present "genomic divide," Indigenous peoples globally have valid concerns as they endure comparatively greater health disparities but stand to benefit the least from these novel scientific discoveries and progress in healthcare. The paucity of Indigenous healthcare providers and researchers in these fields contributes to this genomic divide both in access to, and availability of culturally safe, relevant and respectful healthcare using this genetic knowledge. The vital quest to provide equitable clinical research, and provision and use of genomic services and technologies provides a strong rationale for building BVDs for Indigenous peoples. Such tools would ground their representation and participation in accompanying genomic health research and benefit acquisition. We describe two, independent but highly similar initiatives-the "Silent Genomes" in Canada and the "Aotearoa Variome" in New Zealand-as exemplars that have had to address the aforementioned issues and work to create Indigenous BVDs with these populations. Taking into account the baseline inequities in genomic medicine for Indigenous populations and the ongoing challenges of implementing genomic research with Indigenous communities, we provide a rationale for multiple changes required that will assure communities represented in BVDs, as well as Indigenous researchers, that their participation will maximize benefits and minimize risk.

摘要

全球范围内,构建背景变异数据库(BVD)以用于遗传诊断,这为基因组学知识的增长和后续临床效益的利用提供了潜力。随着精准医学的兴起,罕见遗传疾病和其他诊断都凸显出了潜在的益处。然而,由于全球原住民一直存在“基因组鸿沟”,他们在健康方面存在较大的差异,而从这些新的科学发现和医疗保健进步中受益最少,因此他们对这种情况表示担忧,这是合理的。在这些领域,原住民医疗服务提供者和研究人员的缺乏加剧了这种基因组鸿沟,体现在获取和提供具有文化安全性、相关性和尊重性的医疗服务时,原住民无法平等地获取和利用这些遗传知识。为原住民提供公平的临床研究以及基因组服务和技术的提供和使用,这一迫切需求为构建原住民 BVD 提供了强有力的理由。这些工具将为他们在伴随基因组健康研究中的代表性和参与以及利益获取提供基础。我们描述了两个独立但高度相似的倡议,即加拿大的“无声基因组”和新西兰的“奥特亚罗瓦变异组”,作为范例,它们必须解决上述问题,并努力为这些人群创建原住民 BVD。考虑到原住民在基因组医学方面的基本不平等以及在与原住民社区开展基因组研究方面的持续挑战,我们提出了需要进行多项变革的理由,以确保 BVD 中所代表的社区以及原住民研究人员能够参与,从而使他们的参与能够最大限度地提高效益并最小化风险。

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