OPENING THE DOOR TO A NEW ERA OF BREAST CANCER PREVENTION

Since my first DNA extraction in my high school AP Biology class, I knew I wanted to work in genetics.

During my undergrad degree in Biology with a specialization in Marine and Freshwater Science from the University of New Hampshire, I decided I wanted to familiarize myself with fish DNA, so I did an internship at a lab where they were doing Aquaculture and Fish Genetics combined.

The first job I got after graduating was at a fish farm in south Florida, scraping algae and delivering fish to the airport every day. Needless to say, it wasn’t enough research for me. So I decided to go back to school and get an advanced degree. Luckily, I found a PhD program at the International Agency for Research on Cancer and they were happy to give me a shot. So in 1998, I moved to Lyon, France without knowing a word of French.

The idea for my PhD was to look for polymorphisms associated with colorectal cancer and inflammatory bowel diseases, but at the time we didn’t have a sequenced human genome. We had to find the variants ourselves. My thesis was about how to detect these variants and use them in our studies. Of course, when the Human Genome Project was completed in 2001, everything I was working on became irrelevant. But it was the beginning of the evolution to bioinformatics and statistics and I was ready to learn how to do genetics in the post-genome era.

At that point, we were at the onset of genome-wide association studies (GWAS) where we could look at common variability across the entire genome and find associations with human disease. From there, I went on to do my postdoc at The Harvard School of Public Health in 2003, where I also did a Masters in Epidemiology. In 2007, we published the first GWAS on breast cancer, and that was really the first building block of a cutting-edge application known today as PREVENT.

Today, we’ve gone from a few hundred to a few hundred thousand people in GWAS for breast cancer. We now have a huge body of data to be able to say there are hundreds of variants associated with breast cancer risk. When we put them all together with non-genetic factors, we have a very powerful solution to stratify people based on their risk, this solution became PREVENT, a risk assessment application for breast cancer prevention.

I knew we had to find a way to put this in the hands of clinicians. That’s how the opportunity to work with SOPHiA GENETICS popped up. In 2015, I met Gioia Althoff, the Senior Vice President Genomics, at a congress where we discussed our respective ongoing projects, we realized we wanted to go in the same direction.

In my role as a Clinical Application Product Manager at SOPHiA GENETICS, I’m responsible for the entire PREVENT product line. I see it as two roles. The first is that of an orchestra director, I coordinate all the departments that are involved in PREVENT. The second is that of a Chinese juggler with hundreds of plates on sticks. I need to keep them all spinning. It’s a challenging job, but I had reached a dead end in my academic career and I wanted to keep developing. This role gives me that opportunity.

What keeps me motivated is my past experience working in an academic study on the metastatic phase of breast cancer. As part of that study, I would get an email every time a new patient would come in. With every new email, it meant another woman had just been diagnosed with metastatic breast cancer. During the first year of the study, I had emails coming on Christmas Eve. These women were being told they had a 4 in 5 chance they wouldn’t be around after four more Christmases. I want to make sure as few women as possible get those messages, at Christmas or any other time of year. Detecting cancer at the earliest possible stage increases the chance of a cure. Screening traditionally is based solely on age. PREVENT allows clinicians to better estimate risk, and therefore apply screening to women who need it most – regardless of their age.

What makes SOPHiA GENETICS a great place to work is the open-mindedness. It goes beyond flexibility and diversity—they give you the ability to do big things. I also love the fact that the company gives people with a variety of backgrounds the chance to shine.