SOPHiA GENETICS

Sophia Genetics was co-founded by Dr. Jurgi Camblong, Dr. Pierre Hutter, and Prof. Lars Steinmetz in 2011 as a start-up at École Polytechnique Fédérale de Lausanne . It began as a research tool for hospitals and federally regulated health care labs, and then expanded to biopharma institutions.In 2014, the company introduced an analytical software platform, the SOPHiA DDM Platform , which helps to interpret circulating tumor DNA and circulating tumour cells in blood, urine, cerebral spinal fluid and other liquid samples. The SOPHiA DDM Platform is a Cloud-based, Software-as-a-Service that uses machine learning and AI algorithms to provide genomic insights to doctors and researchers from complex multimodal datasets. Insights are shared across the platform with all participating institutions. This means that as the user-base scales, the AI becomes smarter and more accurate as it’s fed more data. The platform is used for oncology, hereditary cancers, metabolic disorders, pediatrics, cardiology, and for rare disease research.The company initially designed the platform to help hospitals with processing and storing large genomic data-sets, but research showed that the more pressing problem was data accuracy. That then became the platform's primary focus. The startup worked with hospitals to benchmark DNA samples analyzed via their sequencing systems, and then trained algorithms of their own to perform the diagnosing process automatically and recognize relevant patterns in the genome data. The algorithms were built bottom-up from raw FASTQ data.To use the platform, DNA is extracted from a patient sample, enriched, and sequenced by an NGS machine. Once this data has been digitized, it is loaded into the platform. The SOPHiA DDM Platform's AI algorithms then pull out unique genetic variants and pre-classifies data according to pathogenic predictions. Doctors and researchers can then review the detected variants and take action – the SOPHiA DDM Platform in turn learns from those actionsIn 2017, Sophia Genetics was ranked as one of the 50 smartest companies in the world by the MIT Tech Review.In 2018, the company set up its first research and development center in France and made acquisition of a France-based molecular biology and genetic analytics software development company, Interactive Biosoftware. That same year, Sophia Genetics opened its U.S. headquarters in Boston, Massachusetts. At the time, the company was supporting more than 100 university hospitals in the U.S.. It also received the Salus Partner Excellence in HealthTech Award in 2018. In 2020, the company appointed Troy Cox, former board of directors member, as its new chairman, and Lara Hashimoto as chief business officer. In August, the company released a data analysis solution that was focused on predicting the disease evolution of the SARS-CoV-2 virus. The platform’s AI system was designed to conduct a full-genome analysis of the virus. It then combines that data with patient genetic information, and clinical data such as the results of lung and CT scans to discover abnormalities predictive of disease evolution. Sophia Genetics also received the Best Overall Genomics Company in the 2020 MedTech Breakthrough Awards.In 2021, the company was named a Microsoft Partner of the Year finalist and went public, now listed on the Nasdaq. At the time, its platform was in use at more than 750 hospitals, laboratories, and biopharma institutions around the world and had analyzed over 770,000 genomic profiles worldwide.In 2022, Sophia Genetics was named one of the 100 Best Places to Work in Boston by Built in Boston.Also in 2022, the firm began development of a new method for detecting extrachromosomal DNA through collaboration with startup firm Boundless Bio.