Sophia Genetics reveals world’s most advanced collective artificial intelligence platform

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Sophia Genetics, the global leader in Data-Driven Medicine, today unveiled SOPHiA, the world’s most advanced collective artificial intelligence (AI) for Data-Driven Medicine. A state-of-the-art technology, SOPHiA continuously learns from thousands of patients’ genomic profiles and experts’ knowledge to improve patients’ diagnostics and treatments. The unmatched analytical powers of SOPHiA rely on the genomic information pooled on Sophia DDM®, the world’s largest clinical genomics community for molecular diagnostics, gathering to date 170 hospitals from 28 countries.

Today, Sophia Genetics also revealed results proving how SOPHiA managed to obtain a 98% match with expert clinicians’ variant pathogenicity predictions for BRCA genes mutations, which bear a potential risk of susceptibility to breast cancer. To obtain such quality result, the Swiss technological company’s AI considered data from thousands of patients’ genomic tests, building on the information pooled by hospitals in Sophia DDM®, learning how to predict genomic variants pathogenicity almost the same way a clinical expert does, and evolving as more data became available.

An initial 85% match was obtained with 10.000 patient analysed, improving to 96% match with 20.000 tests and 98% with classifications by expert clinicians. The final results are based on the genomic profiles of 30.000 patients, containing 28.000 unique genomic variants. The variants considered by SOPHiA were identified and sorted by Sophia Genetics’ three proprietary and patented advanced technologies, PEPPER™, MUSKAT™ and MOKA™, ensuring the 99.9% specificity and sensitivity that oncologists, clinicians and medical specialists need to confidently report clinical genomics variants to their patients.

SOPHiA’s revolutionary technology will soon be available to hospitals and clinicians members of the Sophia DDM® community. Moving forward, the secure and private pooling of more patients’ genomic profiles on Sophia DDM® will allow for similar advances from SOPHiA for 40 other genome diseases; oncology, hereditary cancers, cardiology, metabolic disorders and paediatrics, and the advent of a true Data-Driven Medicine for patients.

Speaking about this breakthrough for breast cancer diagnostics and treatment, but also for Data-Driven Medicine as a whole, Jurgi Camblong, CEO and co-founder of Sophia Genetics declared:

I am proud to announce that Sophia Genetics is the first company with such genomic variant classification power in molecular diagnostics. SOPHiA facilitates clinical interpretation and its artificial intelligence features give medical experts more time to focus on the study of complex cases. Moving forward, we will use this state-of-the-art technology to apply SOPHiA’s predictive power to the other applications supported on our clinical genomics platform Sophia DDM®. We are already participating in better and faster diagnosing 200 patients every day and we expect SOPHiA’s results presented today to dramatically increase this number by allowing clinicians to offer faster and better diagnostics, and patients to benefit from better treatments.


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