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DNAbling the Healthcare Revolution

Dr. Christopher McMaster, Dalhousie University. Photo Credit: Danny Abriel

Dr. Christopher McMaster, Canada’s newest scientific director of the Institute for Genetics, is excited about the potential of genomics to help people stay healthier longer. “I think over the next decade genomics and other ‘omics fields will revolutionize how medicine is practiced,” he said.

In 2000, the Canadian Institutes of Health Research (CIHR) established the Institute for Genetics – along with 12 other institutes – to support research discovery and its translation into improving health and strengthening our health care system.  At the same time, scientists were racing to complete the mapping of the human genome.

By 2003 the first human genome was sequenced. It cost $1 billion and took 13 years to complete. Now a human genome can be sequenced in a few days for less than a thousand dollars.  McMaster uses the analogy of purchasing a Ferrari to reference how incredible technology advances have rapidly reduced the cost of DNA sequencing. “It’s the equivalent of purchasing a Ferrari for $394,000 in 2003 and selling that same Ferrari to me today for 40 cents,” he said.

More Analysis Needed

Unfortunately, the ability to rapidly acquire genetic data has significantly outpaced our capacity to interpret and use it. In his role as scientific director, McMaster explains, “We will need to increase our capacity to analyze genomic data if we are to determine what keeps us healthy and what makes us sick.”

But analyzing genomic data is not a simple task. Scientists searching for genetic mutations tend to look in protein-coding DNA, which comprises the exons of known genes, but that only makes up two per cent of the human genome. More recently, researchers have uncovered ‘dark DNA’ in the remaining 98 per cent of the human genome where the function of the DNA sequence is not clear and interpreting its effect is a challenge. “We don’t understand what every gene does or how it’s regulated,” said McMaster. “There’s a lot more basic science that needs to happen if we’re going to make the most of the millions of genomes being sequenced.”

Opening Doors Internationally

McMaster explains that in order to improve our capacity to decipher the meaning of genetic variants, especially those that cause rare inherited diseases, large amounts of data must be collected and shared by clinicians and researchers. The more genomes sequenced and aggregated in databases, the better we will get at predicting a person’s health and potential for disease. “It means clinicians can be prognostic and help patients stay healthy, whether it’s making sure they change behaviors, change diets, or get on medications prior to symptoms kicking in,” he said.

This is where the CIHR Institute of Genetics plays a vital role. McMaster is planning on strengthening Canada’s genetic community by furthering the Institute’s collaborations with Europe, United States, China, Japan, Australia and the world. “We are looking to leverage our partnerships so genomics data can be integrated, harmonized, and accessed across international boundaries for the betterment of health, worldwide,” he said.

Addressing Patient Privacy

While pooling genomic data will be better for patients in the long run, sharing data is not how medicine is traditionally practiced. “Protecting patient privacy, by addressing policy and legal challenges, is a priority as we begin to access, analyze, and manage more data,” he said.

Model for Success

The ease with which the human genome can be sequenced and the potential for genomics to become a routine part of medicine, makes it fitting to have the CIHR Institute of Genetics housed in the Sir Charles Tupper Medical Building of Dalhousie University’s medical school. “Dalhousie University has provided us with institutional support and first-class space,” said McMaster. “Plus being on the ground floor makes us accessible so researchers, clinicians and scientists working in genetics can drop by anytime to find out what’s happening and ask for advice. It’s an ideal model for success.”

This is the first CIHR Institute to be located in Atlantic Canada and McMaster and his team look forward to having national and international leaders in genomics come to Halifax.  Not only will these leaders meet with Institute staff but it presents an opportunity to showcase the unparalleled success Atlantic Canadian researchers have had, particularly in the areas of inherited disease and the microbiome, from discovering genes linked to orphan diseases to developing new therapies. “There’s an opportunity to exchange ideas and learn from the expertise of these leaders in genomics,” he said.

McMaster’s first order of business is to set the strategic direction for the Institute of Genetics. “This is the fastest moving medical field out there, so as we plan for the future, it’s important to get our priorities right because the impact on the healthcare system will be massive,” he said. The newly appointed scientific director is already working with an institute advisory board and consulting with patients, doctors, and scientists about what directions are most important for the Institute to pursue and discussing ways to translate research evidence into policy and practice to improve the health of Canadians and people around the world.

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