MOVING CLINICAL TRIALS FORWARD TO BETTER MANAGE GENETIC DISEASES

Marion Brayer

I became very ill as a child. It took a while for my family to really understand how tired I was becoming, but soon they could see it on my face. It’s possible I was too young to really describe it, but seeing my eventual pain and struggling, they tried everything they could to figure things out.

I grew up in Paris, so I was lucky we were in a region with access to world-class healthcare. For about two years I was hospitalized regularly and not able to attend classes in school. After seeing multiple health experts, they determined that I have what’s called Autoimmune Hemolytic Anemia. It occurs when your immune system makes antibodies that attack your red blood cells.

This rare disease has an even more rare element for my case. According to the Genetic and Rare Diseases Information Center, in about half of cases including my own, the cause cannot be determined. It is not classified as a genetic disease, and yet I had an uncle who sadly passed away from an experimental treatment aimed to target this very same disease years earlier. Obviously, this presented an added level of concern for my family.

We were never able to determine if it was a genetic or just extremely random circumstance that led to my illness. At the time, there really wasn’t a lot of ongoing research in this area. It was tough to feel as though we were alone in this effort, searching in the dark. Without any truly optimal treatment prescribed or designated for my disease, we relied on blood transplants to support my immune system. Over much time I felt better and stronger.

Oddly enough, I never really thought about the science of it all that much as a kid. Even being in so many physician’s offices, searching for the cause of my illness had become normal to me, so I never saw it as a “diagnostic journey”. This was a beautifully ironic realization I came to many years later working in clinical trial project management.

As I grew in my education I was initially interested in international political courses, but I realized I was not having the same level of impact in the world that I’d imagined. I’d studied for some time in the United States and my proficient English skills led to an opportunity as a Clinical Trial Assistant. This was the beginning of a new passion. Meeting doctors, recruiting patients and testing the efficacy of new medicine is so exciting. Having been on the patient side for so long, it’s a very comforting thing to see how the trial process is evolving with new technology. I wish I had searchers specifically asking me to be part of a clinical trial when I was younger.

I continued to feed this passion for supporting exciting clinical trials and this ultimately led me to SOPHiA GENETICS. I now work mostly with our Data Science and Research teams. What SOPHiA is doing to help research cancers and rare diseases like my own, to me is huge. The future all comes down to multimodality and what SOPHiA brings to the table. I know from my unique history in this field, there is a need to help define multimodal signatures. This could help us know in advance if a patient is going to respond to a treatment or not based on baseline characteristics. By helping to identify new biomarkers, experts can help understand a disease and potentially predict treatment response.

I know I always want to be involved in interesting projects, and what I’m doing now while managing projects at SOPHiA is keeping me so excited to see how medicine can evolve for the future. I feel like I’m part of moving solutions forward. The help SOPHiA is providing to identify patients and match them with trials; I think this is creating paths to new possibilities.