28 September 2022 - - Saudi Arabia-based King Faisal Specialist Hospital and Research Centre (KFSH and RC) will integrate Swiss precision-medicine company Saphetor's proprietary human genome variant interpretation engine, VarSome, into its research and clinical genomics programs, the hospital said.

The integration aligns with Saudi Arabia's Vision 2030 to strengthen the Kingdom's healthcare sector and its services with technological advancements.

KFSH and RC is a leading tertiary and quaternary healthcare provider in the Middle East.

A globally recognized and accredited hospital, KFSH and RC provides high-quality clinical services, including treatments in oncology, transplantation, cardiovascular diseases, neurosciences, and genetics.

Saphetor's VarSome, integrates and harmonizes 140 genetic data sources, over 32m publications, and numerous unique annotations from a community of over 500,000 users, making it the most comprehensive database of human genome variants.

VarSome also includes automated variant classification tools that apply globally recognized standards developed by the American College of Medical Genetics and Genomics, and the Association for Molecular Pathology, for interpreting germline, somatic, and structural variants.

This addresses a crucial bottleneck in analyzing next-generation sequencing data - the need to manually and individually query numerous data sources and in silico prediction tools.

By implementing VarSome, KFSH and RC's clinicians and researchers will be able to analyze their data with greater speed and power to reduce the time taken to provide a diagnosis and find answers for their patients.

VarSome will be deployed as an API using an on-premises installation. The integration will ensure that data will not leave Saudi Arabia, in accordance with the Kingdom's data governance and protection laws.

Saphetor developed VarSome to aggregate data in line with data privacy requirements worldwide and to overcome the difficulties of moving large volumes of data associated with whole genome sequencing.

King Faisal Specialist Hospital and Research Centre (KFSH and RC) is a tertiary and quaternary healthcare provider in the Middle East.

KFSH and RC's mission is to provide the highest level of specialized healthcare in an integrated educational and research setting.

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.