Lausanne, October 2021 – GenomSys, a pioneer in the development and adoption of the ISO/IEC 23092 MPEG-G open standard for genomic data, announces the launch and the successful CE-marking of its latest GenomSys Variant Analyzer. The first tool worldwide that enables genomic professionals to leverage the benefits of the new genomic standard (MPEG-G) and the most updated databases on human genetic variants.

GenomSys_Alessio_AscariIt is not only us that see the trend moving to whole-exome or whole-genome analysis. For example, the NIH [National Institutes of Health] predicts that everyone will have their genome sequenced by 2030 at the latest [1]. We have to deal with this vast amount of data more reliably and efficiently because each dataset represents an individual human being and time is crucial in medicine. GenomSys Variant Analyzer takes full advantage of MPEG-G, and thanks to its user-friendly dashboard and cloud-based architecture it simplifies the life of geneticists allowing them to focus on the analysis itself and not on bioinformatics., explains Alessio Ascari, Chief Executive Officer of GenomSys.

GenomSys Variant Analyzer is CE-marked as an in-Vitro Diagnostic Medical Device according to 98/79/CE directive. Natively operating on the new international genomic standard, the cloud-based platform offers several advantages in genetics:

  • Intuitive Design and User-Friendly Interface providing professionals with a large set of easy-to-use yet powerful features such as an extensive range of dynamic filtering options to adapt and tailor their preferred analytical criteria
  • Reliable results thanks to the integration of the variant databases curated by Varsome©
  • Dramatically faster data access time and storage size reduction, enabling professionals to quickly access multiple analyses at reduced costs.
  • Automated Workflow for secondary and tertiary analysis and ubiquitous cloud-based infrastructure, adjustable to the individual needs of every user
  • Swiss Quality and Precision designed by genetic experts for genetic experts

Genomics evolution has accelerated over the last decade, mainly thanks to the massive parallel sequencing approach through next-generation sequencing (NGS) with the overall goal of improving patients’ lives [2]. Most recently, the American College of Medical Genetics and Genomics (ACMG) recommended a whole-exome sequencing (WES) or whole-genome sequencing (WGS), for certain diseases, for a higher diagnostic yield and being more cost-effective when ordered early in the diagnostic evaluation [3]. This broader approach in genetic testing – instead of the analysis of only pre-defined regions with gene panels – creates further challenges concerning processing the tremendous amount of information generated.

Luca Trotta CSOIt is good to see that genomics has become a more and more important source of information in diagnostics. The sequencing cost has dropped tremendously over the last decade, creating a new bottleneck: the analysis of the identified variants, especially with broader approaches such as WES or WGS. This generates a demand for reliable, easy-to-use, and efficient software to analyze the results. Based on this premise, we designed GenomSys Variant Analyzer for the analysis of the vast amount of data generated by whole-exome sequencing to support geneticists in deciphering the causes of rare disorders.”, says Luca Trotta, Chief Scientific Officer.

GenomSys Variant Analyzer is now available for everyone in Europe (with a SaaS model). It will be showcased at this year’s BioData World Congress from November 2nd – 4th in Basel (Visit us at booth 17).

About GenomSys

GenomSys SA is a Swiss health technology software company that develops secure, clinical-grade solutions bringing personalized medicine to everyday life.

GenomSys first took genomics to the digital era by addressing the issues of legacy genomic text-based data formats. The company developed and led the ISO international standardization of MPEG-G (ISO/IEC-23092), a digital data format for genomic data representation that delivers substantial benefits in terms of efficient compression, interoperability, native protection, and selective access.

Now GenomSys is taking the next step, enabling laboratories and individuals to take advantage of the new standard: MPEG-G native GenomSys Variant Analyzer for more focused analyses via selective access.

You can download the press kit (English, French, German, Italian and Spanish) on the launch of GenomSys Variant Analyzer at the following link: Dropbox link.

Contact: Lucas Laner, Marketing Manager:

[1] Manickam, K., McClain, M.R., Demmer, L.A. et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med (2021).
[2] Green, E.D., Gunter, C., Biesecker, L.G. et al. Strategic vision for improving human health at The Forefront of Genomics. Nature 586, 683–692 (2020).
[3] Hood L, Balling R, Auffray C. Revolutionizing medicine in the 21st century through systems approaches. Biotechnol J. 2012;7:992–1001.

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