Right on target: Medical treatment with accuracy, thanks to genetics

This article is adapted from the third edition of the Foundation’s magazine

“It’s the medicine of the future—thanks to the specific genetic information we collect, we’ll be able to improve prevention, detect conditions early, diagnose our patients better, and select the most effective medication for each individual.”

As a distinguished researcher and the director of the Beaulieu-Saucier Pharmacogenomics Centre at the Montreal Heart Institute, Dr. Marie-Pierre Dubé pushes the limits of genetics to understand its wide-ranging impact on health. She took the time to explain the basic principles of precision medicine, which allows doctors to personalize patient treatment by analyzing their genetics.

Health and genetics: When DNA help us understand disease

A real math and biology whiz, Dr. Dubé first developed a keen interest in genetics during university. “I fell in love with genetics. I saw it as the quantitative science of biology—it allows us to apply math and statistics to health.”

In her quest to understand the role genes play in the development of diseases, this young woman completed a doctorate in genetic statistics. Dr. Dubé happily recalled the days when they were still laying the foundations of precision medicine. “In the early aughts, it was all pretty new. People were only interested in mutations with strong effects that explained certain rare diseases. But a new statistical model that looked at more subtle variations was just coming to light.”

To illustrate this innovative vision, Dr. Dubé began, “Why does a person have thin or curly or brown hair? It’s due to a number of genes all converging to result in a particular expression. That’s what human diversity is—it’s the product of tiny genetic variations. The same thing applies to health. Beyond studying genetic mutations with strong effects, we can now develop models for many variations with weak effects to explain diseases more precisely.”

Personalized treatment: Precision medicine for proper care

Pharmacogenomics is the part of precision medicine that focuses on personalizing treatment, which is at the heart of Dr. Dubé’s research. “Genetics has very concrete applications. In pharmacogenomics, we use information about genes to develop better, more personalized medication that can be prescribed to the right person, with the right dosage. Two people with the same disease can react differently to the same medication—a treatment that proves to be highly effective for one person can turn out to be ineffective or even harmful for another. Pharmacogenomics allows us to get it right the first time.”

Going from scientific discovery to medical applications

Dr. Dubé believes that genetics research on the effectiveness of medication will make a big difference in people’s lives in the near future. “Our studies have shown that precision medicine works and that we can change the paradigms in the development process for medication. Some research, initiated at the Montreal Heart Institute and conducted in many countries around the world, suggest that one type of medication used to prevent a heart attack from recurring is suitable for 20% of people who recently suffered a heart attack. These promising results push us to keep going. Ultimately, we’d like everyone to be able to get the best benefits from the right medication.”

The Beaulieu-Saucier Pharmacogenomics Centre: A leader and agent of change

The experiments are tightly controlled at the genomics labs and research facilities within the Montreal Heart Institute’s Beaulieu-Saucier Pharmacogenomics Centre, making it a world leader in its field.

“We have over 600,000 samples stored at our pharmacogenomics centre—they help us in our research, which is based on clinical studies. They allow us to measure and sequence DNA, quantify proteins in the blood and identify which groups of patients would most benefit from one type of medication over another,” the researcher explained.

“We’re leaders in terms of computational power and our ability to work in tandem with the clinical trials being conducted. We don’t have to wait for the end of the study—we collect biological samples so we can act during the trial and guide the development of new treatments. We’re trying to change the prescriptions that are offered to patients—we want to have a real impact on healthcare,” added Dr. Dubé, who’s been leading the centre for over 10 years.

A new DNA sequencer, thanks to donors

Thanks to the Foundation, the pharmacogenomics centre recently acquired a next-gen DNA sequencer to help them carry out their many research projects. According to Dr. Dubé, this hi-tech robotic device will help the team further their knowledge of genetic mutations.

“Everyone’s DNA comes from their parents. People think DNA is static, but it can alter over time—these changes are called somatic mutations. With our DNA sequencer, we can study the role they have in the proliferation of blood cells and how these mutations relate to heart disease. This device allows us to do parallel sequencing on different cells so we can uncover the mutations that develop in our lifetime and see if certain medications can limit their harmful effects. We’re the first to ever do this and it’s all thanks to the Foundation.”

Both researcher and patient: An insider’s hope for personalized medicine

Dr. Dubé was born with a heart condition, so she can speak first-hand about the impact of the research being done at the Montreal Heart Institute.

“I rarely talk about it, but my personal history with the Institute inspires me and spurs me on. I was a patient here and I see the potential of all our research, which will always be focused on people’s well-being. I’m on the front line and I see our doctors proactively take our research and put it into practice. They want to work with our researchers to make an immediate difference for the current generation—for the patients they’re treating today.”

Want to learn more about the role of genetics in cardiovascular disease? Watch Dr. Marie-Pierre Dubé’s webinar on the subject.