Nature.com | COLLECTION | 17 September 2019
In this collection, we highlight commentary and reviews from across the Nature Research journals that address some of the questions and considerations surrounding access of human genomic data. We have also selected research articles from across our journals that demonstrate the power of large-scale genomic data and data access.
We are now firmly in the genomics era. The cost of large-scale genotyping and sequencing has declined to the point that human genomic association studies with hundreds of thousands of individuals is now a reality. At the same time, the biological insight that can be derived from these data dramatically increases when data are shared, used in combination with other data sets, and analyzed with new computational methods. Data sharing also allows verification of results. For these reasons, publishers, including Nature Research and BMC, and funders increasingly mandate some level of data access. However, the unique considerations for sensitive human data mean that these data cannot be made openly available without restrictions.
Barriers to accessing public cancer genomic data
Although increasingly recognized as critical to genomic research, genomic data sharing is hindered by an absence of standards regarding timing, patient privacy, use agreement standards, and data characterization and quality. Only after months of identifying, permissioning for use, committing to terms restricting use and sharing, downloading, and assessing quality, is it possible to know whether or not a dataset can be used. In this paper, we evaluate the barriers to data sharing based on the Treehouse experience and offer recommendations for use agreement standards, data characterization and metadata standardization to enhance data sharing and outcomes for all pediatric cancer patients.