German Human Genome-Phenome Archive

The German Human Genome-Phenome Archive (GHGA) is a consortium within the national data infrastructure (NFDI). GHGA aims to create a secure national data infrastructure for human omics data in order to make these data available for scientific research while preventing the misuse of data.^[1][2]

The main goal of GHGA is to establish a national infrastructure for human omics data. These data are to be made accessible in accordance with the FAIR principles.^[3][4] This enables the secondary use of data primarily collected in diagnostics, personalized medicine and biomedical research.^[5]

Genomic data are sensitive, personal data^[6] and require careful protection to minimise the risk of re-identification of the data subject. GHGA implements the legal requirements specific to Germany (GDPR) and thus allows human omics data to be brought together, stored and analysed in a secure, uniform and data protection-compliant framework.^[5]

Goals:^[1][2]

• Establishing a national, secure long-term archive of human omics data.
• Tackling legal and ethical obstacles for data sharing through the implementation of an unified ethico-legal framework.
• Increasing the FAIRness of omics data and facilitating its embedding in national and international data resources and infrastructures.
• Democratising access to and analysis of large-scale omics data for research via a cloud-based analytics platform.
• Increasing the value of research data by integrating multiple omics modalities and linking omics data with phenotype data.
• Training the next generation of scientists in the efficient and responsible use and management of omics data in research.

GHGA is developing a variety of services for the research community. Aside from setting up a data portal, the focus is on tackling ethical and legal issues. GHGA also works on analysing data by co-developing standardised bioinformatics analysis methods.

• Infrastructure for GDPR-compliant sharing of human omics data for secondary purposes^[7]
• Standardised, interoperable and reproducible omics workflows for the scientific community^[8]
• Legal and ethical basis for omics research, including the development of a legal basis for data sharing and tools on consent^[9][10]
• Metadata model to provide standardised information on submitted omics data and to facilitate data findability^[11]
• Educational material for and about omics research and its societal relevance^[12][13]

Within Germany, GHGA is partnering with genomDE^[14] as a research data infrastructure. genomDE is the national strategy for genomic medicine and is intended to make the use of genomic information an "innovative component of standard medical care in Germany".^[15]

Within Europe, GHGA is part of the federated network of the European Genome-phenome Archive (EGA). Functioning as the German node of EGA, the data from GHGA are findable and usable with data from other European studies via compatible standards and metadata.^[16] In the context of the GDI project^[17] funded by the European Commission and the Federal Ministry of Education and Research (Germany), GHGA ensures that German data collections can also be used within the framework of the „1+ Million Genomes“-Initiative^[18]

On 4 July 2019, the German Cancer Research Center, as the applicant institution, submitted the binding pre-application (Letter of Intent) to the DFG Head Office.^[19] On 26 June 2020, GHGA was approved by a funding decision of the Joint Science Conference together with eight other consortia in the first application round.^[20]

In March 2023, the GHGA Metadata Catalog was made available as part of the project’s first phase.^[7] The GHGA Metadata Catalog is a public portal for searching study data from German research institutions.^[21]

• German Cancer Research Center
• University of Tübingen
• University Hospital Tübingen
• Charité
• Berlin Institute for Health at Charité
• Technical University of Munich
• European Molecular Biology Laboratory
• Max Delbrück Center for Molecular Medicine in the Helmholtz Association
• TU Dresden
• University Hospital Heidelberg
• Heidelberg University
• University of Cologne
• Kiel University
• Helmholtz Zentrum München
• German Center for Neurodegenerative Diseases
• Saarland University
• NAKO e.V.

• European Bioinformatics Institute
• Helmholtz Centre for Information Security
• Leibniz Supercomputing Centre
• Helmholtz Centre for Infection Research
• National Centre for Tumor Diseases