Haga Susanne B, Friedman Bethany, Richard Gabriele
1 Center for Applied Genomics and Precision Medicine, Duke University School of Medicine , Durham, North Carolina.
2 GeneDx, Inc. , Gaithersburg, Maryland.
Genet Test Mol Biomarkers. 2017 Dec;21(12):717-721. doi: 10.1089/gtmb.2017.0143. Epub 2017 Oct 18.
The use of sequencing technologies has greatly expanded in both research and clinical settings. The generation of voluminous datasets has raised several issues regarding data sharing and access. Current regulations require clinical laboratories and some research laboratories to provide access to test data, including sequencing data, directly to patients upon request. There is some controversy over whether this access right may be somewhat broader, encompassing research data as well-a question beyond the scope of this article. It is clear that in the research setting, deposition of sequencing data into public or private databases often occurs, although little information exists about the return of data files to research participants (in contrast to the extensive deliberations regarding return of results). Thus, further consideration of the issue of access to data files is warranted as well as more effort to understand both patients' and research participants' use of the data.
测序技术在研究和临床环境中的应用都有了极大的扩展。大量数据集的产生引发了有关数据共享和获取的若干问题。当前法规要求临床实验室和一些研究实验室应患者要求直接向其提供检测数据，包括测序数据。对于这项获取权是否可能更广泛一些，涵盖研究数据在内，存在一些争议——这是一个超出本文范围的问题。很明显，在研究环境中，测序数据常常会存入公共或私人数据库，不过关于将数据文件返还给研究参与者的信息却很少（与关于结果返还的广泛讨论形成对比）。因此，有必要进一步考虑数据文件获取问题，并加大力度了解患者和研究参与者对数据的使用情况。
