Addressing Benefits, Risks and Consent in Next Generation Sequencing Studies.
Addressing Benefits, Risks and Consent in Next Generation Sequencing Studies.
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DOI：
10.4172/2155-9627.1000249
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发表时间：
2015-12
期刊：
影响因子：
--
通讯作者：
Meller R
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文献类型：
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作者：
Meller R
人类基因组的测序和DNA测序的技术进步导致了DNA测序及其诊断遗传疾病的潜力方面的革命。然而，开放获取基因组数据的要求必须与人类受试者研究共同规则的指导原则相平衡。不幸的是，参与基因组研究的患者所面临的风险仍在不断变化，因此，有学问和善意的科学家可能还不清楚。这个问题的核心是使人类参与者在这些研究中保持匿名或去识别的策略。互联网上基因组数据储存库和其他数据库中的基因组数据丰富，使得去识别数据能够被打破，研究主题能够被识别。去识别的安全性忽略了DNA本身是一种识别元素的事实。因此，数据安全标准是否能够在当前条件下或未来真正保护患者的身份是值得怀疑的。随着大数据方法的进步，额外的数据来源可能会重新识别入组下一代测序（NGS）研究的患者。因此，现在是时候重新评估共享基因组数据的风险并制定新的良好做法准则了。在这篇评论中，我解决了联邦资助的研究者面临的挑战，他们需要在遵守联邦（US）人类受试者规则和最近要求开放获取/共享美国国家卫生研究院（NIH）资助的涉及人类受试者的研究数据之间取得平衡。
The sequencing of the human genome and technological advances in DNA sequencing have led to a revolution with respect to DNA sequencing and its potential to diagnose genetic disorders. However, requests for open access to genomic data must be balanced against the guiding principles of the Common Rule for human subject research. Unfortunately, the risks to patients involved in genomic studies are still evolving and as such may not be clear to learned and well-intentioned scientists. Central to this issue are the strategies that enable human participants in such studies to remain anonymous, or de-identified. The wealth of genomic data on the Internet in genomic data repositories and other databases has enabled de-identified data to be broken and research subjects to be identified. The security of de-identification neglects the fact that DNA itself is an identifying element. Therefore, it is questionable whether data security standards can ever truly protect the identity of a patient, under the current conditions or in the future. As Big Data methodologies advance, additional sources of data may enable the re-identification of patients enrolled in next-generation sequencing (NGS) studies. As such, it is time to re-evaluate the risks of sharing genomic data and establish new guidelines for good practices. In this commentary, I address the challenges facing federally funded investigators who need to strike a balance between compliance with federal (US) rules for human subjects and the recent requirement for open access/sharing of data from National Institute for Health (NIH)-funded studies involving human subjects.