SOPHiA GENETICS is a health-tech company that provides AI-driven data analytics solutions to hospitals and biopharma companies, enabling decentralized, cloud-based analysis of complex genomic and multimodal data for precision medicine.
Could you tell us about the concept behind SOPHiA GENETICS?
When we started SOPHiA GENETICS in 2011, we recognized that the way we approached diseases was on the verge of a radical transformation. Advances in science and technology were generating entirely new categories of data, particularly in genomics, which would revolutionize our understanding of cancer and rare inherited diseases. We saw an opportunity to go beyond research and leverage this data in the cloud using algorithms to analyze information across hospitals. By doing so, we aimed to provide physicians with better insights when making medical decisions based on their patients’ genomic data.
At that time, precision medicine was gaining traction in biopharma and biotech, but few understood that data itself would be the key driver behind it. Our vision was clear: genomic data would be produced near patients for diagnostics, other clinical data would be integrated with it, and a single platform would be needed to break down information silos between hospitals. This exposure to diverse datasets would allow us to build sophisticated algorithms that could benefit all medical institutions equally. Our goal was democratization—ensuring that hospitals, regardless of their resources, could access the same level of intelligence as the world’s top academic centers. A doctor in San Francisco and one in Armenia should have the same capability to diagnose and treat a patient with the best available insights.
With AI-driven healthcare solutions becoming more prevalent, what differentiates SOPHiA GENETICS from its competitors?
Our differentiation lies in our approach. For any technology to gain adoption, it must provide a tangible benefit to the user. Just as you only use tech tools that serve a clear purpose, hospitals adopt our platform because it delivers actionable value. We have invested heavily in developing algorithms that can identify critical signals—biomarkers, mutations—despite the vast heterogeneity and complexity of medical data. Genomic and clinical data can be extremely messy, and our strength lies in our ability to extract precise insights from it.
To achieve this, we take inspiration from Swiss watchmakers, focusing on the precision mechanics of our algorithms. Every hospital that uploads its data to our platform benefits from highly accurate computational analysis, ensuring exceptional sensitivity and specificity. This means we not only detect all relevant genomic variations but also minimize false positives and negatives. This relentless focus on accuracy has allowed us to build a global network of nearly 800 Tier 1 hospitals. Today, our platform processes over 30,000 patient cases monthly, soon reaching 2 million, ensuring that hospitals worldwide can compute their data with unparalleled precision.
Can you provide a concrete example of how SOPHiA GENETICS helps practitioners apply precision medicine?
Around 80% of the 30,000 cases we support each month are in oncology, where molecular profiling plays a crucial role in treatment decisions. One real-world example comes from a recent case in Brazil, where our algorithms enabled the identification of an actionable mutation in a child’s cancer when they were just nine months old. As a result, their brain was not irradiated, Tand they receive targeted therapy. Today that child is alive and is 4 years old. Hospitals generate vast amounts of patient data, and our role is to process and analyze it, providing them with highly accurate genomic insights that drive better decision-making.
For example, in leukemia cases, the DNA profile of a tumor helps determine disease progression and potential therapeutic strategies. The process begins with a blood sample taken at the hospital, followed by DNA extraction and sequencing. The raw sequencing data is then uploaded to our cloud platform, where we apply our AI algorithms to detect relevant mutations. This is extremely challenging due to variations in hospital workflows, biological complexities, and biases introduced during sequencing. By overcoming these obstacles, we enable hospitals to diagnose and treat cancers more rapidly and effectively.
What impact has your company had in making precision medicine more accessible in different regions?
One striking example is our work with Tata Memorial Hospital in India. Before partnering with us, they had to send patient samples to the U.S. for molecular profiling, a process that took six weeks and cost thousands of dollars. Today, using our platform, Tata Memorial can complete the same analysis in under two weeks, with the actual data computation taking just four hours. This makes testing significantly cheaper and allows them to profile far more patients than before.
By decentralizing genomic testing, we ensure that medical decisions are based on comprehensive molecular profiling rather than guesswork. Patients benefit directly because doctors now have precise insights into what drives their cancer, how it might evolve, and which treatments will be most effective. This model of bringing genomic expertise closer to patients, rather than relying on centralized labs abroad, has had a transformative impact on access to precision medicine worldwide.
SOPHiA GENETICS also collaborates with biopharma companies. Could you elaborate on your partnership with AstraZeneca, for example?
Yes, our work with AstraZeneca is a great example. When pharma companies develop highly sophisticated drugs, they need to identify the right patients who can benefit from these therapies. The ability to perform accurate, decentralized genomic testing is critical in this process.
One area where this is particularly relevant is liquid biopsy, which allows cancer testing through a simple blood sample rather than an invasive tissue biopsy. However, until recently, liquid biopsy testing was highly centralized, limiting access to targeted treatments. AstraZeneca recognized this challenge and partnered with us to decentralize liquid biopsy testing through our platform. We worked with Memorial Sloan Kettering Cancer Center (MSK), one of the world’s top cancer institutions, to industrialize this technology. In just a few months, we deployed it in over 34 hospitals across 10 countries on five continents, enabling hospitals worldwide to perform liquid biopsy testing with the same level of accuracy as MSK in Manhattan (New York).
SOPHiA GENETICS recently launched its OncoPortal. Could you explain its significance and how it advances the field of minimal residual disease (MRD) tracking?
The OncoPortal Mutation Tracker is an important development for SOPHiA GENTICS, particularly in the space of MRD tracking. Unlike centralized solutions, our approach is focused on serving a decentralized network, similar to what we achieved with MSK-ACCESS powered with SOPHiA DDM. Liquid biopsy plays a crucial role here, as it allows for blood-based testing over time while a patient is being treated. Unlike traditional tissue biopsies, which are too invasive to perform repeatedly, liquid biopsies enable continuous monitoring of cancer evolution with minimal risk to the patient.
This capability allows us to track mutations present in the blood at extremely low frequencies—what we call variant allele fractions—providing an early signal of potential cancer relapse. In some cases, this could detect a relapse before imaging results show any changes. In other cases, physicians can track specific mutations that influence treatment decisions. Our ability to decentralize this process will significantly expand access to MRD tracking worldwide.
Where do you see SOPHiA GENETICS in the next three years?
Our vision has always been to create a connected network, starting with genomic data but expanding to include longitudinal clinical data as well. Over the past few years, we have demonstrated the value of integrating multiple data types. For example, in France, several hospitals use our platform to analyze multimodal data for kidney cancer, enabling physicians to have informed discussions with patients about whether to begin immuno-oncology treatments.
Over the next three years, we plan to deploy these multimodal capabilities more broadly across our network. Our goal is for hospitals to not only use our platform to understand the genomic drivers of a patient’s cancer but also compare individual cases against thousands of others in our system. By leveraging collective intelligence, hospitals will be able to identify optimal treatment paths based on real-world data from similar cases. This shift toward data-driven, personalized treatment strategies is where I see SOPHiA GENETICS making a significant impact in the near future.
