Cloud system facilitates transcontinental human data exchange

International collaboration CINECA facilitates genomic data exchange

Cloud system facilitates transcontinental human data exchange

23 Jan 2019 - 16:29

Summary

  • A new cloud-based data collaboration makes human omics data from more than a million individuals accessible to authorised researchers
  • Federated data sharing will now be possible on an unprecedented scale through the transcontinental CINECA project
  • Enabling secure access to clinical research data will help accelerate disease research, drug development and discoveries

24 January, Cambridge – Registered researchers will be able to analyse population-scale genomic and biomolecular data with the launch of the Common Infrastructure for National Cohorts in Europe, Canada and Africa (CINECA), an international project led by EMBL’s European Bioinformatics Institute (EMBL-EBI). A virtual cohort of data from 1.4 million individuals will be made accessible to approved researchers around the world through CINECA’s federated cloud-based network.

Rapid access to clinical research data allows scientists to share their findings and reduce the need to duplicate costly studies. This accelerates research and helps advance benefits to patients through the responsible sharing of genetic, phenotypic and life-style data on an unprecedented scale.

Comprised of 18 partner organisations* across three continents, CINECA is composed of data from 11 cohorts selected to provide a diverse representation of studies in rare disease, common disease and national cohorts over time (longitudinal).

Personalised medicine

Within the next five years it is predicted that the majority of human genomes will be generated through national-scale healthcare initiatives. Federated analysis tools, such as those within the CINECA initiative, could help identify relevant treatments for patients on an individual basis and it is hoped that, in the near future, the cloud will be utilised by personalised medicine programmes worldwide.

"By enabling access to genetic data from diverse human populations, CINECA will support the development of treatments tailored to each individual patient's genetic profile, the ultimate goal of personalised medicine," says Thomas Keane, Team Leader at EMBL-EBI.“Clinicians need to be able to compare a patient’s genome to a large set of healthy people and sick people, in order to understand the underlying genetics of the patient. And by “large”, we mean hundreds of thousands or even millions of other people.”

Tools for discovery

A key aim of CINECA is to develop tools which allow for rapid data discovery, secure access and authorisation within the cloud. Such tools will enable researchers to quickly discover data which are relevant to ongoing research projects, without duplicating studies. This raises the potential for novel discoveries into causes of rare and common disease such as cancer and diabetes.

“The project provides an avenue for us to align with international best practices, and contribute to these from an African and resource-limited perspective,” says Nicola Mulder, Head of Computational Biology at University of Cape Town and Principle Investigator of H3ABioNet (a Pan African bioinformatics network for H3Africa). “At the same time as contributing our own expertise in working with diverse African genetic data, we hope to gain experience in new technologies for data sharing and clinical implementations.”

The challenges

Federated international sharing of human data presents ethical and technical challenges, and is a task tightly embedded within the CINECA project. Delivering a solution to meet all ethical and security requirements for the international sharing of health data is a key aim of the project, providing the base upon which CINECA operates.

To protect patient privacy, access to the federated data cohorts will follow the established structure used by the Global Alliance for Genomics and Health (GA4GH), where researchers must formally apply for data access on an individual basis.

“This project is a large scale implementation of almost all of the GA4GH standards, in particular, data use and Researcher ID standards,” says Keane. “The goal of this implementation is to accelerate the process of accessing datasets in a safe and secure way.

“All the control of the datasets remains with the local cohorts, as we’re not trying to create a centralised resource, but a federated one.”

What is a Researcher ID?

A Researcher ID functions similarly to a passport; a researcher presents their Researcher ID to a data cohort, which then allows the cohort to rapidly verify the researcher’s identity and organisation. Once approved, access to the data cohort is granted automatically.

"The CINECA project will bring together studies from across continents, empowering these studies to gain new insights only possible from the larger scale achieved from their collective analysis,” adds Fiona Brinkman, Professor of Molecular Biology and Biochemistry at Simon Fraser University.

"From across Canada, teams of researchers will tackle different key challenges in bringing these studies together, including enabling more federated data analysis, and a common language for the data so that studies from across continents can be brought together.”

CINECA partners

Institute name Short name Country
European Molecular Biology Laboratory EMBL Germany
IT Center for Science CSC Finland
University of Applied Sciences Western Switzerland HES-SO Switzerland
SIB Swiss Institute of Bioinformatics SIB Switzerland
ERASMUS University Medical Centre Rotterdam EMC Netherlands
Royal Institution for the Advancement of Learning, McGill University MCG Canada
The Hospital for Sick Children SickKids Canada
University of Cape Town UCT South Africa
National Institute for Health and Medical Research INSERM France
University of Tartu UTARTU Estonia
Clinicalgeno Limited Clinicalgeno United Kingdom
Centre for Genomic Regulation CRG Spain
University Medical Center Groningen UMCG Netherlands
The Chancellor, Masters and Scholars of the University of Oxford UOXF United Kingdom
Simon Fraser University SFU Canada
The Hyve BV The Hyve Netherlands
Masaryk University MU Czech Republic
Biobank and Biomolecular Resource Research Infrastructure Consortium BBMRI-ERIC Austria

Funding

This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 825775.

Contact the news team

Oana Stroe
Communications Officer
stroe@ebi.ac.uk
+44 (0)1223 494 369

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