Sophia Genetics analyses 2 million genomic profiles with AI

SOPHiA GENETICS has announced it has analysed over two million genomic profiles on its AI-powered analytics platform, SOPHiA DDM.

The company states that 1.5 million of these profiles were analysed from cancer patients, marking a substantial contribution to data-driven medicine. According to SOPHiA GENETICS, this milestone underscores the role of AI in enhancing precision medicine by providing more accurate diagnoses and targeted treatments.

The platform aggregates data from 800 healthcare institutions in 72 countries, highlighting its broad usage and relevance. Clinicians can upload genetic data to the SOPHiA DDM platform for analysis and receive results in approximately 45 minutes, a significant improvement in turnaround time that benefits patients with aggressive cancer forms.

"When we announced one million profiles analysed in 2022, it was a landmark moment in the evolution of data-driven medicine," said Jurgi Camblong, Chief Executive Officer and Co-founder of SOPHiA GENETICS. "Less than three years later, we have doubled that number, an acceleration that reflects both the trust our partners place in our platform and the increasing role of AI in transforming healthcare."

The SOPHiA DDM platform continues to be a valuable resource for healthcare institutions worldwide. It processes thousands of new oncology and rare disease cases daily, leveraging its real-world dataset to refine its AI capabilities.

Pierre Hutter, Co-founder and former Chief Scientific Officer of SOPHiA GENETICS, commented, "At SOPHiA GENETICS, our vision was to create a platform that could harness genetic data to benefit patients worldwide. Reaching two million genomic profiles is a historic milestone, strengthening a platform that now integrates hundreds of millions of data points across multiple health dimensions, driving even greater impact for precision medicine."

Lars Steinmetz, Chair of the Department of Genetics at Stanford University and Co-founder of SOPHiA GENETICS, added, "From the beginning, we knew that scale and diversity of data would be essential to making AI truly impactful in healthcare. Today, the platform reflects an unprecedented range of profiles, ensuring that AI-driven insights are not just powerful, but also inclusive and globally relevant."

SOPHiA GENETICS's platform utility is further supported by testimonials from healthcare professionals around the globe. Gilles Millat at CHU Lyon, France, notes how the platform has enhanced the efficiency and speed of analysing hereditary cardiac pathologies, while Dr. R. Venkataramanan from Karkinos Healthcare, India, shared how it has advanced cancer diagnostics for patients, including those in underserved areas.

Dr. Angelo Minucci at Fondazione Policlinico Universitario Agostino Gemelli in Rome, Italy, explains, "SOPHiA DDM allows us to tackle a wide range of genetic analyses, from exome sequencing to hereditary cancer and HRD testing, without compromising accuracy or efficiency."

In the United States, Dr. Jessica Van Ziffle from UCSF Clinical Cancer Genomics Lab highlights a specific instance of the platform's efficacy: "With SOPHiA DDM, we have been able to confidently identify genetic rearrangements that provide critical insights into the complexity of cancer." She added, "One recent analysis allowed us to leverage SOPHiA GENETICS's advanced algorithm to detect a BRCA1 rearrangement—an ALU insertion—that could have otherwise easily been missed. The ability to detect these challenging variants with precision ensures we acquire the best possible knowledge for research, patients and their families."

SOPHiA GENETICS recognises the contributions of its global network of healthcare professionals and patients in achieving this milestone. The announcement was made in conjunction with their participation at the NVIDIA GTC AI Conference in California, where they showcased their advancements in data-driven medicine.