SOPHiA GENETICS

SOPHiA GENETICS is a healthcare technology company focusing on data-driven medicine. SOPHiA GENETICS is the developer of SOPHiA Artificial Intelligence for clinical genomics. The company was founded in 2011. The company gathers genomic data and utilizes AI and predictive analytics to help health professionals identify potential indicators of cancer and hereditary disorders. SOPhiA GENETICS also has an application that combines medical images with clinical data to predict tumor growth. The company created the SOPHiA DDM Platform, a cloud-based SaaS platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. SOPHiA develops research platforms in the disease areas of oncology, rare and inherited diseases, cardiology, neurology, and metabolism and provides solutions in areas of drug discovery, clinical development, and commercialization of new drugs.

SOPHiA GENETICS has collaborations with GE Healthcare, AstraZeneca, and Hiroshima University.

An overview of the SOPHiA DDM Platform

The SOPHiA Data-Driven Medicine (DDM) Homologous Recombination Deficiency (HRD) Solution is a cancer testing approach that combines the identification of HRD-causing mutations with analysis of HRD-induced genomic instability across the whole genome of tumor samples. HRD is a deficiency in the ability of the cell to repair DNA double-stranded breaks through the homologous recombination repair (HRR) pathway. HRD is linked to the development of certain cancers, and it is an important predictor of tumor response to treatment with PARP (poly adenosine diphosphate-ribose polymerase) inhibitors. PARP inhibitors prevent cancer cells from repairing and allow them to die. SOPHiA DDM detects HRR mutations, such as those in BRCA1 and BRCA2, which cause HRD and the accumulated damage to genomic integrity that can result from HRD mutations. The process involves shallow whole-genome Next Generation Sequencing. The SOPHiA HRD Solution provides a decentralized approach to HRD testing for tumor samples and the user retains full ownership of their data. SOPHiA GENETICS is collaborating with AstraZeneca to expand access to in-house HRD testing across European laboratories and institutions.

For solid tumor detection, the SOPHiA GENETICS DDM platform assesses immune-oncology biomarkers such as microsatellite instability (MSI), the molecular fingerprint of deficiency in mismatch repair system, which acts during DNA replication to remove errors. This is in addition to NGS-based testing for variants such as single nucleotide variants (SNVs) and insertion/deletions (INDELs). SOPHiA’s DDM platform facilitates the determination of tumor mutation burden (TMB) scores, the total number of mutations per coding area of the tumor genome, in comprehensive genomic assays. TMB can be an indicator of how the immune system will respond to the tumor. In the precision medicine space, SOPHiA can apply machine learning algorithms to data sets and stratify patients based on progression-free survival which can inform treatment decisions.