Featured Journal Content
Nature Reviews Genetics
Volume 20 Issue 11, November 2019
Roadmap | 27 August 2019
Leveraging European infrastructures to access 1 million human genomes by 2022
Gary Saunders, Michael Baudis[…] & Serena Scollen
Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To maximize the value of the genomic data generated, these data will need to be shared between institutions and across countries. In recognition of this challenge, 21 European countries recently signed a declaration to transnationally share data on at least 1 million human genomes by 2022. In this Roadmap, we identify the challenges of data sharing across borders and demonstrate that European research infrastructures are well-positioned to support the rapid implementation of widespread genomic data access.
Our understanding of the human genome is recognized as a primary factor for improvement in health care. Initiatives on a national scale are being established to generate genomic data to realize the benefits of precision medicine. The most advanced — Genomics England in the UK — has now completed full genome sequencing for more than 100,000 participants22 and has already demonstrated benefits by providing a diagnosis for one in four participants of the rare disease component of the initiative. No other national sequencing initiative has reached this scale, with most being currently at the stage of inception.
Data sharing knowledge and technologies sit mostly within the research sector where, to date, most data have been generated. As the majority of genomics data generation shifts to the health-care sector4, a sector that is not used to handling data at this scale, the knowledge that already exists should be leveraged. Providing access to sensitive human data to authorized researchers within one country is challenging in itself; providing access to 1 million human genomes cross-border by 2022 (as proposed by the EU declaration5) will be even more so. Beyond the technical capabilities, such a project needs to ensure that patients are satisfied and understand how their data are shared, or willingness to participate will dwindle and future benefits will not be realized.
Efficient management of genomics data from human participants, ensuring that the privacy of individuals is preserved, will be vital to meet current aims. To truly federate services for controlled-access human data we will need to identify, develop and disseminate global interoperable and reusable standards, and these standards must be persistent, stable and fit for purpose. We have described in this paper the infrastructure that exists to build upon for transnational-scale genomics data access and our minimal recommendations for an EU-wide infrastructure for accessing and analysing genomics data…
Declaration of cooperation: towards access to at least 1 million sequenced genomes in the European Union by 2022. European Commission (2018).