Collecting, analyzing, interpreting, predicting… and acting

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

How the Pharmacogenomics Centre is driving the future of medicine

Ian Mongrain has directed operations at the Beaulieu-Saucier Pharmacogenomics Centre for more than 10 years. He has borne witness to how the team brings scientific innovations to life every day. He told us how the Biobank works and how, in the near future, the combined strength of ongoing clinical studies and statistical analyses will enable scientists to prevent diseases and provide patients with personalized care.

The cornerstone of personalized medicine

Since it was created in 2008, the MHI’s Pharmacogenomics Centre has been dedicated to advancing knowledge and promoting discoveries in precision medicine through pharmacogenomic research. As the director of operations, Ian Mongrain summarizes the Centre’s goal this way: “It’s an organization dedicated to promoting personalized medicine, which means using a patient’s information, a study, or samples and data to explain a medical phenomenon and improve the treatments available. In other words, what the Pharmacogenomics Centre does is to collect and interpret data to ensure that we provide treatments that are adapted to each patient.”

The MHI’s Biobank: a unique repository of samples

The MHI’s Biobank, housed at the Pharmacogenomics Centre, was created to turn clinical studies into tangible applications. “The Centre’s Biobank was built using data from the MHI patients who agreed to take part in this project. We created the Biobank to have as many samples from patients in our freezers as possible so that in future projects, we can carry out genetic analyses cross-referencing medical information,” said Ian. What sets the MHI’s Biobank apart from others is not only the number of samples it contains (more than 500,000 collected to date), but that it is continuously evolving. “The biggest advantage of our Biobank is that it allows us to study longitudinal data. Because the MHI’s patients are monitored over a period of time, we can update the research data. That means the Biobank is always evolving. This in turn allows researchers to explain, interpret and compare data over time. It represents a wealth of information that we can track. We can also contact patients again to invite them to take part in additional studies, for instance if we want to validate a discovery pertaining to the efficacy of a drug. Because it is a hospital cohort, we can combine the genetic information in the samples we analyze with data collected from the hospital. That way, we have a global view of healthcare data, which can lead to in-depth analyses.”

Leveraging the strength of a multidisciplinary team to collect and interpret data

The Pharmacogenomics Centre has developed a stellar reputation in the pharmaceutical field thanks to the scientific rigour of its approach and its capacity to analyze the data collected. “Our strength is being able to house both laboratory and statistical skill sets under one roof. These two teams come together to conduct clinical studies and extract and analyze relevant information. That means we need nurses, physicians and managers at the Biobank along with technicians, researchers and IT assistants who can build the data collection tools used in the lab. We also have statisticians and IT specialists to analyze this data. When we proceed with analyses, we follow very stringent laboratory practices from the get-go. These enable us to achieve the highest standards of quality. We now have immense credibility within the industry: when we publish the results of a new study, they’re highly valued because everything has been done in line with best practices,” said Ian. As proof of the exceptional quality of the Centre’s work, it recently obtained the North American CAP/CLIA certification, which has rarely been awarded in Quebec.

The dal-GenE study

According to Ian, the dal-GenE study is a perfect example of the Centre’s analytical and interpretation abilities. “A few years ago, pharmaceutical giant Roche had to end a major study on the efficacy of a drug to reduce cardiovascular events in patients with acute coronary syndrome due to inconclusive results. A global study indicated that the medication was no more beneficial than a placebo. In collaboration with Dr. Jean-Claude Tardif, our team at the Pharmacogenomics Centre conducted a genetic review of the data stemming from this study. We were able to determine that some patients had a genetic variant that allowed them to derive a significant benefit from the drug. Meaning that it was probably efficient, but only for certain people. When traditional clinical studies fail, we now have ways of understanding the data and we can deliver new solutions thanks to advanced genetic analyses. Today, the clinical study has resumed, but only in patients with the genotype we identified. That’s what precision medicine is all about.”

He added: “Developing a molecule or a drug in the lab is one thing. Everything gets much more complex once we’re in the clinical stage. We often don’t understand why the drug doesn’t work as planned. Cogenetic data allows us to comprehend and use that information to treat patients more efficiently.”

Personalized medicine: acting to prevent

What will precision medicine look like in the next few years? This is a broad and intricate question about a field that is experiencing tremendous growth. But Ian has an idea: “I expect we’ll be able to use a small blood sample, taken at birth or when the patient is a young adult, to sequence their DNA and guide clinical decisions throughout their life. This is the part of preventive medicine that will focus on screening and prevention rather than treatments. There will be fewer cases of chronic diseases and fewer negative impacts of ill-suited drugs because we will know the relative efficacy of the medication on a patient according to their genetic profile. That’s significant considering that side effects from medication are a major source of hospitalizations in the U.S. and Canada. Even today, randomized studies have proven that precision medicine reduces the number of hospital admissions. It’s time to change mindsets and to quickly conduct the clinical studies needed to convince the healthcare sector that acting in a preventive way is a win-win situation for everyone,” he said.

Ian’s heart

If Ian’s heart could speak, here’s what it would say:

The future is in good hands with personalized medicine. I’m sure that very soon, there will be major scientific breakthroughs in precision medicine—not only in cardiovascular medicine but in every field.