SOPHiA Genetics

Published by Daniel at November 30, 2023

SOPHiA Genetics is a biotechnology company that aims to provide data analytics solutions to support healthcare centers and providers by expanding the capacity of deep learning in medicine. The company was founded in 2011 by Jurgi Camblong, Pierre Huttler, and Lars Steinmetz in Lausanne, Switzerland, at École Potechnique Fédérale de Lausanne. Its founders envisioned building an organization offering long-lasting contributions and resources to the global healthcare system and enhancing cross-collaboration between nations to bring equal benefits for all users. Nowadays, the company has headquarters in Lausanne and Boston, and its technology is trusted by more than 1000 hospitals worldwide. (1,2,3)

This global leader in data-driven medicine has broadly expanded to different markets, combining genomics and radiomics to provide better diagnoses and treatment to patients. Leading hospitals worldwide are currently using these services, including the Mayo Clinic, Boston Children’s Hospital, Memorial Sloan Kettering Cancer Center, The University Hospital of Zurich, Instituto Europeo di Oncologia, and others.(1,2,3)

Smart Data, Better Solutions

Since 2011, SOPHiA’s dynamic team has grown fast-paced, with more than 300 employees in around 30 countries, including experts in AI, mathematics, engineering, and genetics. One of the factors that made this a successful business is the weight of data contributions from hospitals -as Kebin Puylaert, general manager of the company- has mentioned in simple words, “If you want to have a smarter AI, you need more data.” (3,4)

An aid for precise diagnosis and monitoring

The company has been focused on creating a Data-Driven platform supported by numerous genomic insights using essential elements of AI: statistical inference, pattern recognition, and machine learning. Sophia Genetics platform provides three solutions: radiomics, genomics, and clinical trials. The first division, radiomics, is considered a pillar of precision medicine. By transforming medical imaging, providers would improve their decisions, increase diagnosis accuracy, and enhance research. Radiomics’ primary division, Oncology, offers AI-powered 3D segmentation, processed predictive models, and biomarkers to monitor cases following the Image Biomarker Standardization Initiative (IBSI).(4,5,6)

This solution has been proven effective in multiple tumors, such as meningiomas, primary lung tumors, and metastases, and aids physicians during the extraction of these masses. The newest section of Radiomics was designed to manage COVID-19 cases by reviewing CT scans and enabling rapid identification and evolution of genomic variants during the pandemic0.(4,5,6)

By transforming medical imaging, providers would improve their decisions, increase diagnosis accuracy, and enhance research. Radiomics’ primary division, Oncology, offers AI-powered 3D segmentation, processed predictive models, and biomarkers to monitor cases following the Image Biomarker Standardization Initiative (IBSI).This solution has been proven effective in multiple tumors, such as meningiomas, primary lung tumors, and metastases, and aids physicians during the extraction of these masses. The newest section of Radiomics was designed to manage COVID-19 cases by reviewing CT scans and enabling rapid identification and evolution of genomic variants during the pandemic0.(4,5,6)

Exploring the human genome and finding solutions

Genomics is another solution offered by the company that lends a helping hand to experts in their goal to accurately detect and analyze coding regions of genes associated with solid and hematological malignancies and variants associated with hereditary disorders, including BRCA positive malignancies and von Hippel-Lindau disease, among others. This division allows multiple variants simultaneously and significantly shortens analysis time. (7,8)

Additionally, SOPHiA Genetics has designed a new platform using next-generation sequencing (NSG) to analyze the full genome of SARS-CoV-2. This section generates high-quality viral genome data for surveillance and evolution of the virus. Nowadays, it is supported by record data from hospitals worldwide, resulting in effective feedback on the changes in the virus’s genome to these centers and leading to improved therapies and outcomes.(7,8)

Three pathways to achieve a common goal

SOPHiA for Clinical Trials represents the last platform included by this institution. Its purpose is to accelerate the development of new therapies, enhance patients’ selection criteria during clinical trials, and assist with advanced clinical-grade genomic testing. The division comprises Trial Match, a unit that increases the efficacy of studies by matching patients to trials based on their genomic profiles. Trial Detect is a tool that stratifies clinical genomic networks and ensures accurate analysis.(9,10,11)

Finally, SOPHiA CDx is a section that focuses on building connections with pharmaceutical and biotech companies to accelerate quality drug development. More than 980 hospitals have proven these solutions very efficient as this platform can compute one genomic profile in only 4 minutes. (9,10,11)

Broaden horizons

More recently, the company partnered with Hitachi, a renowned Japanese AI firm, to join forces and advance in data-driven precision medicine, establish secure personal genomics data management, and accelerate drug development in oncology and other diseases. This partnership will allow SOPHiA Genetics to broaden its reach in critical geographic regions, resulting in innovative solutions that will impact patient outcomes. (12,13)

Innovative idea = Successful company

In 2017, Dr. Jurgi Camblong, the CEO of SOPHiA Genetics, won the “Emerging Entrepreneur” title in clinical genomics, and in 2018, the company earned the “Jury’s Special Prize” at the Vaud International Business Award. This business was also considered one of the smartest companies by the MIT Technology Review in 2017.(14)

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