Lausanne, Switzerland - September 15, 2022 - Saphetor SA, a Switzerland-based precision medicine company recognized for its industry leading variant interpretation platform VarSome, has been successfully selected as one of the twelve companies to participate in the Instand-NGS4P tender which has received funding from the European Union’s Horizon 2020 Research and Innovation Programme.
The use of genomic sequencing has become more widespread in healthcare, particularly as a diagnostic and an important foundation of personalized treatment and care. As the technology matures, there is a growing need to introduce standardized, certified, and simplified workflows to scale successfully into routine care. The goal of the Instand-NGS4P project is to improve cancer patients’ outcomes by developing a Next-Generation Sequencing (NGS) workflow that is fully integrated across sample collection, library preparation, sequencing, data analysis, and data interpretation. The standardized workflow will combine information from cancer testing of both adult and pediatric cancer patients from genetic testing, pharmacogenomics testing, and e-medication into a comprehensive medical presentation to treating clinicians for supporting therapy decision-making at bedside. The project aims to produce a simple user interface for both patient and doctor to review results, data storage, data security, and state-of-the-art clinical requirements for bioinformatics knowledge.
Saphetor SA is pioneering genomic data analysis with its VarSome Clinical platform being the first such platform to receive CE-IVD certification. VarSome Clinical provides clinicians with an easy-to-use tool for genomic data analysis of NGS gene panels, whole exomes, and whole genomes with automated variant classification according to recognized standards such as ACMG and AMP interpretation guidelines. With an unmatched wealth of knowledge and data contained in its MolecularDB database, which has aggregated data from over 140 data sources today, clinicians have at their fingertips the most complete and up to date source of information to make the right decision in diagnosis and treatment options.
The Instand-NGS4P project is divided into four phases and is expected to end in 2025 at which time a full and completely integrated solution for clinicians across the European Union is to be developed.
Andreas Massouras, CEO of Saphetor SA, commented: “As precision medicine in healthcare systems becomes more widely adopted, we at Saphetor are proud to be part of the effort to make a highly targeted method of diagnosing and treating cancer available to patients around the world. We continue to work on enabling precision medicine in healthcare by providing a highly scalable solution for genomic testing designed to improve patient outcomes, reduce costs, and streamline the results.”
Kurt Zatloukal, Med Uni Graz (Lead Procurer of Instand-NGS4P) said: "We highly appreciate that leading companies in the field of NGS-based diagnostics such as Saphetor SA are taking advantage of the Instand-NGS4P pre-commercial procurement project to further advance their technology."
This is part of the Instand-NGS4P project that has received funding from the European Union’s Horizon 2020 Research and Innovation Programme, Grant No. 874719.
About Saphetor SA
Saphetor SA, 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.
Saphetor is the creator of 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.
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 CE-IVD-certified and 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.