{"id":73731,"date":"2025-03-07T10:30:43","date_gmt":"2025-03-07T09:30:43","guid":{"rendered":"https:\/\/www.embl.org\/news\/?p=73731"},"modified":"2025-03-07T10:37:09","modified_gmt":"2025-03-07T09:37:09","slug":"a-federated-future-to-support-genomic-medicine","status":"publish","type":"post","link":"https:\/\/www.embl.org\/news\/science-technology\/a-federated-future-to-support-genomic-medicine\/","title":{"rendered":"A federated future to support genomic medicine\u00a0"},"content":{"rendered":"\n<article class=\"vf-card vf-card--brand vf-card--bordered vf-u-margin__bottom--800\" default>\n  <div class=\"vf-card__content | vf-stack vf-stack--400\">\n      <h3 class=\"vf-card__heading\">\n      Summary    <\/h3>\n                <p class=\"vf-card__text\"><h1><\/h1>\r\n<ul>\r\n \t<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">The Federated European Genome-phenome Archive enables secure access, sharing, and reuse for sensitive genomic data.<\/span><\/li>\r\n \t<li style=\"font-weight: 400;\" aria-level=\"1\">FEGA\u2019s network has expanded to include more partners. Poland, Portugal and most recently Canada have joined the network alongside the original nodes: Sweden, Norway, Finland, Germany, and Spain.<\/li>\r\n \t<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">FEGA is set to grow further by integrating multi-omics and clinical data, exploring federated analytics, and leveraging emerging technologies.<\/span><\/li>\r\n<\/ul><\/p>\n      <\/div>\n<\/article>\n\n\n\n\n<p>The <a href=\"https:\/\/ega-archive.org\/about\/projects-and-funders\/federated-ega\/\">Federated European Genome-phenome Archive (FEGA)<\/a> is transforming how sensitive human genomic data is shared and accessed. Building on the longstanding <a href=\"https:\/\/ega-archive.org\/\">European Genome-phenome Archive (EGA)<\/a> \u2013 a database for human genetic, phenotypic, and clinical data \u2013 FEGA enables researchers to securely discover and analyse human genomic data while ensuring compliance with national and international data protection regulations. By decentralising data storage across national nodes, FEGA ensures data remains secure within its country of origin while also being accessible to researchers worldwide.<\/p>\n\n\n\n<p>To mark the news that Canada has now joined FEGA and to celebrate the recent publication of <a href=\"https:\/\/www.nature.com\/articles\/s41588-025-02101-9\">FEGA\u2019s landmark paper in <em>Nature Genetics<\/em><\/a>, we take a look at FEGA&#8217;s achievements so far, the network&#8217;s future, and the collaborative effort driving the initiative.\u00a0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">From centralisation to federation<\/h2>\n\n\n\n<p>In the last two decades, as the volume of human genomic datasets grew larger and legal requirements to access the data were tightened, it became clear that a single repository like the EGA could no longer meet the global community\u2019s needs. The EGA team proposed adopting a federated model, in line with local legal and ethical frameworks, while also allowing access to these data globally.<\/p>\n\n\n\n<article class=\"vf-card vf-card--brand vf-card--striped vf-u-margin__bottom--800\" default>\n  <div class=\"vf-card__content | vf-stack vf-stack--400\">\n      <h3 class=\"vf-card__heading\">\n      What is a federated model?     <\/h3>\n                <p class=\"vf-card__text\"><span style=\"font-weight: 400;\">A federated model is a distributed network in which multiple entities operate under a common framework. Each node or entity retains control over its own data and processes, while agreed-upon standards and protocols allow them to collaborate and share data globally. This approach enables secure and coordinated data sharing across different countries, ensuring that local legal and ethical requirements are met.<\/span><\/p>\n      <\/div>\n<\/article>\n\n\n\n\n<p>EMBL-EBI and the Centre for Genomic Regulation (CRG) in Spain have co-managed the EGA since 2008. Together, they helped shape the federated data-sharing model now used by FEGA.<\/p>\n\n\n\n<figure class=\"vf-figure wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"683\" class=\"vf-figure__image\" src=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07161-1024x683.jpg\" alt=\"\" class=\"wp-image-73733\" srcset=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07161-1024x683.jpg 1024w, https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07161-300x200.jpg 300w, https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07161-768x512.jpg 768w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"vf-figure__caption\">Participants at the FEGA launch symposium. Credit:&nbsp;Centre for Genomic Regulation<\/figcaption><\/figure>\n\n\n\n<p>Two major ELIXIR-funded projects also helped make FEGA\u2019s federated model possible. The <a href=\"https:\/\/elixir-europe.org\/about-us\/how-funded\/eu-projects\/excelerate\">ELIXIR-EXCELERATE<\/a> initiative \u2013 a programme supporting international data sharing \u2013 helped lay the early groundwork with proof-of-concept studies. <a href=\"https:\/\/elixir-europe.org\/about-us\/how-funded\/eu-projects\/converge\">ELIXIR-CONVERGE<\/a> \u2013&nbsp; a project to standardise data management across Europe \u2013 has accelerated the development of the first national FEGA nodes.&nbsp;<\/p>\n\n\n\n<p>\u201cIn the early days of setting up FEGA, we were grappling with the limitations of a centralised system. It felt like we were facing enormous challenges,\u201d said <a href=\"https:\/\/www.ebi.ac.uk\/people\/person\/mallory-freeberg\/\">Mallory Freeberg, Human Genomics Team Leader at EMBL-EBI<\/a>. \u201cThrough collaboration, we overcame those obstacles to build the foundations of FEGA. I\u2019m immensely proud to have been part of this endeavour. It\u2019s an exciting time for this network, and there is so much more to achieve as we continue pushing the boundaries.\u201d<\/p>\n\n\n\n<p>By 2020, the foundation for FEGA\u2019s federated model was set, leading to <a href=\"https:\/\/www.ebi.ac.uk\/about\/news\/announcements\/federated-ega\/#:~:text=September%202022-,European,-institutes%20commit&amp;text=2022%20European-,institutes,-commit%20to&amp;text=European%20institutes-,commit,-to%20data&amp;text=institutes%20commit-,to,-data%20access&amp;text=commit%20to-,data,-access%20across&amp;text=to%20data-,access,-across%20borders&amp;text=data%20access-,across,-borders%20Research&amp;text=access%20across-,borders,-Research%20institutes&amp;text=borders%20Research-,institutes,-from%20five&amp;text=from%20five-,European,-countries%20have&amp;text=have%20committed-,to,-improving%20the&amp;text=discover%20and-,access,-sensitive%20human&amp;text=sensitive%20human-,data,-across%20national&amp;text=human%20data-,across,-national%20borders&amp;text=across%20national-,borders,-to%20enable&amp;text=national%20borders-,to,-enable%20more&amp;text=Related%20links-,European,-Genome%2Dphenome%20Archive&amp;text=ELIXIR%20Tags%3A-,data,-science%2C%20data&amp;text=data%20science%2C-,data,-service%2C%20database%2C&amp;text=database%2C%20embl%2Debi%2C-,european,-genome%2Dphenome%20archive%2C&amp;text=is%20%E2%80%98ready-,to,-go%E2%80%99%20long&amp;text=Funding%20awarded-,to,-develop%20a&amp;text=global%20Pathogen-,Data,-Network%2030&amp;text=is%20set-,to,-improve%20access&amp;text=to%20improve-,access,-to%20sensitive&amp;text=improve%20access-,to,-sensitive%20human&amp;text=sensitive%20human-,data,-in%20a&amp;text=-,European,-institutes%20commit&amp;text=European-,institutes,-commit%20to&amp;text=European%20institutes-,commit,-to%20data&amp;text=institutes%20commit-,to,-data%20access&amp;text=commit%20to-,data,-access%20across&amp;text=to%20data-,access,-across%20borders&amp;text=data%20access-,across,-borders%20%7C&amp;text=access%20across-,borders,-%7C%20EMBL%2DEBI\">the official launch of the resource in September 2022<\/a>. The first collaboration agreements were signed by nodes in Sweden, Norway, Finland, Germany, and Spain.<\/p>\n\n\n\n<figure class=\"vf-figure wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"683\" class=\"vf-figure__image\" src=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07111-1024x683.jpg\" alt=\"\" class=\"wp-image-73735\" srcset=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07111-1024x683.jpg 1024w, https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07111-300x200.jpg 300w, https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07111-768x512.jpg 768w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"vf-figure__caption\">Federated cake pops to celebrate FEGA&#8217;s launch. Credit:&nbsp;Centre for Genomic Regulation<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Impact through global collaboration<\/h2>\n\n\n\n<p>\u201cGlobal health challenges like pandemics and rare diseases do not respect national borders,\u201d said <a href=\"https:\/\/www.crg.eu\/en\/programmes-groups\/ega-team\">Arcadi Navarro, ICREA Research Professor at the Universitat Pompeu Fabra and Director of the EGA team at the Centre for Genomic Regulation<\/a>. \u201cBy expanding beyond Europe and adding the Canadian node, we consolidate the Federated EGA as the world\u2019s most comprehensive, secure, and diverse resource for genomic and health data to tackle these urgent questions.\u201d<\/p>\n\n\n\n<p>The <a href=\"https:\/\/www.ebi.ac.uk\/about\/news\/announcements\/first-datasets-available-in-the-federated-ega-network\/\">first datasets were submitted to FEGA<\/a> by late 2023, proving the federated model in practice. These data have since continued to grow, with FEGA now holding nearly 40 datasets. The network has also expanded with nodes in Portugal and Poland joining in 2023, and Canada in December 2024. Discussions are also ongoing with many other collaborators, including a Swiss node who are currently \u2018Observers\u2019 of FEGA.&nbsp;<\/p>\n\n\n\n<p>\u201cThis milestone partnership provides Canadian researchers with a swift, secure connection to global collaborators, fostering scientific and clinical innovation while continuing to uphold our commitment to privacy and compliance,\u201d said <a href=\"https:\/\/www.bcgsc.ca\/people\/steven-jones\">Steven Jones, lead for the CGA node and Co-Director of Canada\u2019s Michael Smith Centre for Genome Sciences at BC Cancer<\/a>.<\/p>\n\n\n\n<p>FEGA aims to support global research in disease diagnosis and personalised treatment. The following are a few examples.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>FEGA data from the <a href=\"https:\/\/ega-archive.org\/studies\/EGAS50000000209\">Swedish Childhood Tumour Biobank<\/a> will help drive paediatric cancer studies.&nbsp;<\/li>\n\n\n\n<li><a href=\"https:\/\/ega-archive.org\/studies\/EGAS50000000267\">Circulating small RNA sequencing data<\/a> have been made available from the node in Norway; these can be used to identify biomarkers for endometrial cancer.&nbsp;<\/li>\n\n\n\n<li>The <a href=\"https:\/\/ega-archive.org\/studies\/EGAS50000000096\">first dataset shared from Poland<\/a> is being used by researchers at the University of Vilnius to investigate the genetic basis of overgrowth syndrome, a rare genetic disorder that causes excessive growth in children.<\/li>\n<\/ul>\n\n\n\n<figure class=\"vf-figure wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"683\" class=\"vf-figure__image\" src=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07013-1024x683.jpg\" alt=\"\" class=\"wp-image-73737\" srcset=\"https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07013-1024x683.jpg 1024w, https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07013-300x200.jpg 300w, https:\/\/www.embl.org\/news\/wp-content\/uploads\/2025\/03\/IP_07013-768x512.jpg 768w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"vf-figure__caption\">Arcadi Navarro speaking at the FEGA launch symposium. Credit: Centre for Genomic Regulation<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">A federated future&nbsp;<\/h2>\n\n\n\n<p>Looking ahead, FEGA will also continue to refine its metadata standards, including those developed as part of the <a href=\"https:\/\/www.ga4gh.org\/\">Global Alliance for Genomics and Health (GA4GH)<\/a>, to increase data discoverability and interoperability. This will support future integration of multi-omics datasets, as well as clinical health records for a more complete picture of disease biology.&nbsp;<\/p>\n\n\n\n<p>Efforts to support more data submissions are also underway, including the development of training materials and the establishment of FEGA node-specific help desks to assist local users. Federated analytics are also in the works, which will enable secure, multi-node analyses without the need to download sensitive data.<\/p>\n\n\n\n<p>As FEGA evolves, it sets a high standard for global human genomics data sharing. By integrating multi-omics and clinical data, FEGA will support research towards improved personalised medicine and help inform public health strategies to ultimately improve patient outcomes.&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>The Federated European Genome-phenome Archive (FEGA) has expanded its network and continues to evolve by embracing emerging technologies.<\/p>\n","protected":false},"author":77,"featured_media":73739,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[17591,11056],"tags":[28,515,36,132,42,5778,1950,212,4760,5686],"embl_taxonomy":[2906,11974],"class_list":["post-73731","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science-technology","category-technology-and-innovation","tag-bioinformatics","tag-ega","tag-embl-ebi","tag-european-genome-phenome-archive","tag-genomics","tag-human-ecosystems","tag-human-genetics","tag-medicine","tag-precision-medicine","tag-rare-disease","embl_taxonomy-embl-ebi","embl_taxonomy-european-genome-phenome-archive-and-european-variation-archive"],"acf":{"vfwp-news_embl_taxonomy":[11974,2906],"featured":true,"show_featured_image":false,"field_target_display":"both","field_article_language":{"value":"english","label":"English"},"article_intro":"<p>The Federated European Genome-phenome Archive (FEGA) has expanded its network and continues to evolve by embracing emerging technologies<\/p>\n","related_links":false,"source_article":[{"publication_title":"The Federated European Genome-phenome Archive: A global network for discovery and access of human genomics data","publication_link":{"title":"","url":"https:\/\/www.nature.com\/articles\/s41588-025-02101-9","target":""},"publication_authors":"D\u2019Altri T., et al ","publication_source":"Nature Genetics ","publication_date":"03 March 2025","publication_doi":"doi.org\/10.1038\/s41588-025-02101-9"}],"in_this_article":false,"press_contact":"None","article_translations":false,"languages":""},"embl_taxonomy_terms":[{"uuid":"a:3:{i:0;s:36:\"b14d3f13-5670-44fb-8970-e54dfd9c921a\";i:1;s:36:\"89e00fee-87f4-482e-a801-4c3548bb6a58\";i:2;s:36:\"a99d1a7c-ca83-4c00-ab61-d082d3e41ce3\";}","parents":[],"name":["EMBL-EBI"],"slug":"embl-ebi","description":"Where &gt; 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