APPLaUD：患者和参与者获取个体水平未解释基因组数据的途径。
APPLaUD: access for patients and participants to individual level uninterpreted genomic data.
机构信息
Centre of Genomics and Policy, Department of Human Genetics, McGill University Faculty of Medicine, Montreal, Quebec, H3A 0G1, Canada.
Icahn School of Medicine at Mount Sinai, New York, USA.
出版信息
Hum Genomics. 2018 Feb 17;12(1):7. doi: 10.1186/s40246-018-0139-5.
BACKGROUND
There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts.
MAIN BODY
We review legal frameworks and literature on the benefits, risks, and practical barriers of providing individuals access to their data. We also survey genomic sequencing initiatives that provide or plan to provide individual access. Many patients and research participants expect to be able to access their health and genomic data. Individuals have a legal right to access their genomic data in some countries and contexts. Moreover, increasing numbers of participatory research projects, direct-to-consumer genetic testing companies, and now major national sequencing initiatives grant individuals access to their genomic sequence data upon request.
CONCLUSION
Drawing on current practice and regulatory analysis, we outline legal, ethical, and practical guidance for genomic sequencing initiatives seeking to offer interested patients and participants access to their raw genomic data.
背景
越来越多的人支持这样一种立场，即患者和研究参与者在临床和研究环境中应该能够更好、更容易地访问他们的原始（未解释）基因组序列数据。
主要内容
我们回顾了关于提供个人访问其数据的好处、风险和实际障碍的法律框架和文献。我们还调查了提供或计划提供个人访问的基因组测序计划。许多患者和研究参与者期望能够访问他们的健康和基因组数据。在某些国家和情况下，个人有权访问他们的基因组数据。此外，越来越多的参与式研究项目、直接面向消费者的基因检测公司，以及现在的主要国家测序计划，都允许个人根据要求访问他们的基因组序列数据。
结论
借鉴当前的实践和监管分析，我们为寻求向感兴趣的患者和参与者提供其原始基因组数据访问权限的基因组测序计划概述了法律、伦理和实践指导。
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