REDEFINING MOMENT FOR THE FUTURE OF DATA-DRIVEN MEDICINE

n medicine, you often end up caring for specific patients. For me it was always about trying to see if I could have a larger impact on care by unlocking data. It’s always been about how I can help others. I view where I’ve landed now as a way to help affect a greater number of people on a larger scale.

My training is in molecular biology with a strong focus on in vitro diagnostics in both the development and clinical laboratory sides of the business. I gained experience with what it takes to bring novel technologies into clinical practice. In doing so, I was able to see the benefits to healthcare systems, patients, and practitioners.

Since the early days following the completion of the human genome project, advances in both molecular technologies and our understanding of the underlying genetics of disease have grown enormously. Today, we are faced with new challenges; how do we deal with the huge amounts of data generated by the new technologies? How do we ensure we extract every ounce of insight with better understanding of disease? The potential benefits are unmeasurable. Even if we succeed, unless the results of these efforts are democratized and accessible to all, it will never be considered a complete success. It is for these reasons that I was attracted to SOPHiA. Now, I’m leading some of their teams as Director of Genomics for Rare Diseases.

There are many ways to unlock the power of data, but I was really attracted to the vision and the mission of Jurgi and SOPHiA GENETICS in general about democratizing Data-Driven Medicine. I think every part of that sentence is very important because the point is, there’s so much power in data, but we really need to make the right use of it. Having a platform play the role of spidering the webs of people and information into one intricate and efficient space enables the sharing aspect that is so necessary at this time in order for medicine to progress.

The current COVID-19 pandemic has presented the company with an opportunity to demonstrate the value of our multimodal technology portfolio in a real-world setting. Active research points toward multiple factors influencing disease susceptibility, severity, and progression. SOPHiA’s comprehensive portfolio seems uniquely suited to explore these multimodal signatures predictive of COVID-19 clinical behavior and outcomes. Our team is exploring ways to demonstrate the power and clinical utility of applying all modalities to understand COVID-19 progression across the spectrum of clinical outcomes for patients: asymptomatic to mild, severe, and sometimes fatal cases including young patients with no known preexisting conditions.

There are tremendous amounts of research initiatives focused on understanding the complex clinical research questions raised by the COVID-19 pandemic. Due to our extensive experience with analytics and a comprehensive portfolio, we have the capabilities to harness the power of data from multimodal inputs (viral, host and patient data) to gain insights for development of therapeutics, including vaccines and disease management.

A Next-Generation Sequencing (NGS) solution allows you to sequence the whole genome of the virus. This means you can track, with high quality, the variations of the virus. The issue is that with all of the different NGS applications, depending upon the panel and the sequencer, you’ll have noise. With our technology platform, trained to handle noise from different NGS sources, we can very quickly and accurately calibrate the signal and normalize data. It can be done from any healthcare institution in the world. Because of everything that has been built over the past decade in this company around cancer and rare disease research, we were able to pivot rather quickly. This is an emergency, but as we know very well, cancer is a slow-moving emergency.

It is very gratifying on a personal level to be in a position to contribute to the better management of major healthcare crises. We’ve all been confined at home for a while, but in a strange way it has brought us all together. To me, it’s bringing out the best in people in terms of collaboration. It only reaffirms that we are on the right trajectory and that we can really make a difference and possibly accelerate the future sharing of data insights for the benefit of all. It is a privilege to be part of a company that has the vision and the kind of leadership that can make that difference.