Saphetor Obtains European CE Mark

Saphetor is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge. The company developed VarSome, a suite of intuitive and data-driven bioinformatics solutions both for clinicians and researchers. VarSome.com professional community and search engine is freely accessible, featuring a widely recognized community-driven knowledge base that enables flexible queries across more than 140 genetic and genomic data resources from its community of more than 500 000 users worldwide.

VarSome Premium and VarSome Clinical are professional editions of VarSome with powerful functionality and further sophisticated data mining and analysis tools. VarSome Clinical is a HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions. VarSome can also be integrated into existing in-house pipelines via VarSome API through cloud-based or on premises installations.

The new IVDR certification for VarSome Clinical represents a major milestone in clinical genomics, as robust standards and regulations are introduced to ensure the safety and effectiveness of medical devices. Inclusion of NGS analysis software under IVDR is a reflection of the maturity of the technology and its importance in clinical practice. With this shift towards routine care comes the need for transparency and reproducibly reliable performance.

Andreas Massouras, CEO and Founder, Saphetor SA, comments:“The journey to IVDR certification has taken us more than two years. It has taken a lot of hard work across the company, and a lot of planning to put new processes in place. This now sets the new standard that all NGS diagnostic pipelines need to adhere to. Ensuring patient safety, through transparent and robust processes is crucial at this point in time. Genomic data is already having a major impact on healthcare, and so it is now critically important that it meet the standards that the rest of established medical practices have to meet. This is an exciting time, as it shows that genomics is now moving beyond clinical research and into routine clinical care. We are exceptionally proud to be amongst the first bioinformatics platforms to be awarded a CE mark under IVDR, and we look forward to continuing to help advance human health with our VarSome Clinical partners.”