GenomSys is proud of the participation as sponsor of the Human Genome Meeting 2026, the flagship annual event of the Human Genome Organisation (HUGO), held this year in Athens, Greece. This participation reinforces our commitment to advancing the global dialogue on genomic data standardisation and to showcasing how ISO-compliant technology can power a new generation of precision medicine at national and international scale.
The Human Genome Meeting stands as one of the world’s most authoritative forums for genomics research, clinical genomics, and health policy. It convenes leading scientists, clinicians, biotech innovators, and health system architects from across the globe. Our presence in Athens — both as sponsor and through scientific contributions — reflects GenomSys’s unique position at the intersection of cutting-edge genomic research, open standardisation, and real-world clinical deployment.
01 — The ISO/IEC 23092 MPEG-G Standard: A Pillar for National Genomic Infrastructures
The global genomics landscape is undergoing a profound transformation. Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) are rapidly transitioning from research instruments to routine clinical tools. National health systems across Europe and beyond are launching large-scale population genomics initiatives, generating petabytes of sequencing data annually. Yet the infrastructure required to store, transmit, protect, and analyse this data at scale remains fragmented, expensive, and poorly standardised.
Legacy formats — FASTA, FASTQ, SAM, BAM — were designed for a very different era. They offer no native encryption, no embedded indexing, no selective access, and no built-in interoperability framework. As genomic programmes scale up to hundreds of thousands — or millions — of patients, these limitations translate directly into unsustainable costs and unacceptable security risks.
“To scale up, genomics requires standardisation and efficient data compression: the same key elements that have enabled successful digitalisation in other industries, such as the media sector.”
The ISO/IEC 23092 MPEG-G standard — the only international ISO standard specifically designed for genomic data — directly addresses these challenges. Developed with significant contributions from GenomSys, MPEG-G provides a unified, open, and fully standardised framework that enables national health systems to manage genomic data with unprecedented efficiency, security, and interoperability.
The standard’s core technical capabilities are transformative for large-scale national deployments:
- Lossless compression up to 77% smaller than BAM, dramatically reducing storage costs across national genomic repositories without any loss of analytical integrity.
- Selective access with up to 99% reduction in processing time compared to BAM, enabled by embedded indexing that allows precise retrieval of genomic regions without decompressing entire files.
- Multi-level selective encryption, allowing granular protection of sensitive genomic and metadata at different levels of the logical structure — a fundamental requirement for GDPR-compliant national programmes.
- Enforcement of privacy rules, with encoded data linkable to owner-defined access and usage restrictions, enabling robust data governance at population scale.
- Data streaming, allowing processing to begin before transmission ends — critical for real-time clinical workflows and distributed national infrastructure.
- Incremental metadata update, enabling files to be extended and enriched without decompression, supporting longitudinal patient follow-up and audit trails.
- Full interoperability with legacy formats and seamless integration with Electronic Health Record (EHR) systems, protecting existing investments while enabling a forward-compatible architecture.
- Single unified syntax for all data types generated by the secondary analysis pipeline — from raw sequences to aligned reads to assemblies — simplifying bioinformatics workflows at national scale.
For national health systems investing in population genomics — from cancer predisposition programmes to rare disease diagnostics to pharmacogenomics — MPEG-G provides the technical foundation required to build sustainable, secure, and scalable genomic data ecosystems. Its ISO status guarantees vendor neutrality, long-term stability, and regulatory compatibility, making it the natural choice for public health infrastructure.
Key figures: 77% file size reduction vs BAM (lossless) · 99% processing time reduction via selective access · ISO International Standard — ISO/IEC 23092
02 — Delivering MPEG-G Solutions to Healthcare
GenomSys is a Swiss health software company and the world’s leading implementer of the ISO/IEC 23092 MPEG-G standard. Our platform — built around the GenomSys MPEG-G Toolkit and the GenomSys Variant Analyzer — enables clinical-grade encoding, decoding, selective access, and analysis of genomic data conforming fully to the ISO standard. The Toolkit is available both for on-premises installation and as a private cloud deployment, ensuring compatibility with diverse national IT environments.
GenomSys’s cooperation with Philips International marks a pivotal step in the transition of MPEG-G from a standard of excellence to a clinical reality deployed within integrated healthcare systems. As a recognised Healthcare Software Provider, GenomSys contributes MPEG-G-based genomic data management capabilities to a combined health informatics portfolio, enabling hospitals, diagnostic centres, and national health programmes to access standardised genomic solutions within an enterprise-grade infrastructure they already trust.
This partnership unlocks important synergies: GenomSys’s deep technical expertise in MPEG-G implementation and its suite of validated software tools creates a uniquely powerful offering for health systems seeking to operationalise genomics at scale. Together, we are enabling a new generation of clinical genomics workflows in which raw sequencing data, variant analysis, and patient-level reporting are managed within a single, standards-compliant, interoperable framework.
GenomSys Portfolio — MPEG-G Powered Solutions
The GenomSys MPEG-G Toolkit enables encoding and decoding of genome sequencing data to ISO/IEC 23092 standard, available on-premises and on private cloud. The GenomSys Variant Analyzer supports WES and WGS analysis including SNV, indel, and CNV detection, integrated with MPEG-G for end-to-end standard-compliant workflows and customisable clinical variant interpretation reports. The GenomYou App brings genomic data directly to patients on their smartphones, supporting health and lifestyle decisions through integrated genetic counselling.
MPEG-G ISO STANDARD adoption also accelerates market access in regions where national precision medicine strategies are actively evaluating interoperability standards for genomic data. GenomSys’s ISO MPEG-G solutions are positioned to become a key component of the digital health infrastructure of multiple national health systems in the coming years.
03 — Joint Labs with IIT: Validating MPEG-G on Massive Real-World Genomic Datasets
Scientific evidence at scale is the foundation of any technology deployment in healthcare. GenomSys has therefore established joint laboratory collaborations with the Italian Institute of Technology (IIT) — one of Europe’s most prestigious research institutions — to conduct extensive, real-world validation of the MPEG-G standard on genomic datasets of extraordinary scale and clinical complexity.
This collaboration takes place within the framework of the 5000genomi@VdA Project, a landmark Italian initiative funded by the Autonomous Region of Valle d’Aosta and led by IIT in close partnership with the regional healthcare system and a network of hospitals and research centres across Italy. The project has sequenced more than 5,800 human genomes across five distinct clinical cohorts — neurodegenerative diseases, neurodevelopmental disorders, oncology, organ transplantation, and healthy population controls — making it one of the most comprehensive WGS programmes currently active in Italy.
“This collaboration represents a strategic blueprint for implementing Whole Genome Sequencing into clinical practice in Italy — and a unique testbed for validating the performance of MPEG-G on genomic datasets of unprecedented scale and heterogeneity.”
The IIT-GenomSys joint work directly demonstrated the real-world advantages of MPEG-G across the entire 5000genomi@VdA data pipeline. Encoding the WGS output of the project in MPEG-G (ISO/IEC 23092) delivered measurable, clinically significant gains:
- Up to 77% reduction in file size versus BAM through lossless compression — directly reducing storage requirements for the project’s multi-petabyte genomic repository.
- Up to 99% reduction in filtering and processing time versus BAM, through MPEG-G’s integrated indexing system enabling efficient selective access according to a wide range of criteria.
- Single unified syntax for all data types used and generated by secondary analysis, including raw and aligned sequences and assemblies.
- Seamless integration of metadata with genomic data, supporting data usage tracking, audit trails, and integration with EHR systems.
Two scientific contributions from this joint programme were presented at HGM 2026 Athens, directly showcasing the breadth of the collaboration. The first e-Poster reported on the Whole Genome Sequencing of 1,502 cases of Parkinson’s disease from Italy — a landmark study integrating short- and long-read sequencing, AI-powered variant prioritisation using Evo 2, and MPEG-G encoding for the entire data flow. The study achieved a genetic diagnosis in 13.3% of patients and demonstrated WGS’s superiority over conventional targeted assays for discovering novel mutations and pathogenic mechanisms in PD.
The second e-Poster presented the 5000genomi@VdA initiative as a whole, highlighting the computational and clinical genomics infrastructure developed by IIT, GenomSys, and the consortium, and outlining a strategic national model for integrating WGS into routine clinical practice. With over 5,800 genomes sequenced and analyses of both coding and non-coding regions ongoing across all five clinical cohorts, the project provides the most extensive real-world validation to date of MPEG-G’s performance in a national clinical genomics context.
Key figures: 5,800+ human genomes sequenced · 1,502 Parkinson’s disease WGS cases analysed · 5 clinical cohorts (neurology, oncology, transplantation, population)
The joint laboratory programme with IIT is ongoing and expanding. Its results are already informing the design of next-generation national genomic platforms in Italy and providing an internationally replicable model for the clinical deployment of the MPEG-G standard at population scale.
To learn more about GenomSys’s MPEG-G solutions, visit www.genomsys.com or contact us at info@genomsys.com.
