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Expert Perspectives

A New Paradigm for Precision Health

By Allison Hazell, Director of Clinical Innovation, Medcan

The origins and implications of our pioneering Genomic Health Assessment.

Several years ago, I began working as a genetic counsellor on the Personal Genome Project (PGP) Canada study, an ongoing cross-disciplinary academic effort evaluating the effectiveness of whole genome sequencing in healthy people. By 2018, we had sequenced the whole genomes of 56 Canadians, and discovered that 100% of participants had a medically relevant finding.

Medcan’s genetic counselling team continues to donate our time to PGP Canada, which has solidified for us the value that whole genome sequencing data can have for healthy people. But it also helped us realize the limitations of looking at this data in isolation of your broader clinical picture and healthcare team. The real value of whole genome sequencing exists in its ability to empower you to be able to efficiently take action on the information you learn. Without the support of your healthcare provider, and other clinical baseline data, you may find yourself in a situation where you have some information about a particular health risk, but no avenue to address the risk clinically. This experience has served to shape the development of Medcan’s recently launched Genomic Health Assessment.

The Genomic Health Assessment combines one’s whole genome sequencing data with the thousands of clinical data points that we collect from our hallmark Annual Health Assessment. This means that, for the first time, a Canadian provider is empowering clients with the most complete picture of their current and future health. Our genetic counsellors guide clients through the process from start to finish, but also collaborate with our primary care physicians and a broad roster of physician specialist teams, including geneticists, cardiologists and gastroenterologists. After over a decade of speaking directly to our clients about what they want and need, we built this program with three fundamental principles in mind.

Get the most comprehensive data – “sequence once, interpret often”

Most genetic testing available today on the consumer market analyzes only a small portion of the human genome. (For example, Medcan’s proactive genetic screening evaluates 147 key genes.) Such analysis is a great option for those looking for specific targeted information (such as their future cancer risk). But as we have heard from clients over the years, some want access to all of the genetic information available. These are people who want to know everything they can about their genetic risks – whether it be related to cancer, heart disease or neurological disease. They want to use this information for preventive health decisions, as well as for personal life planning purposes, and to provide important information for their children and other family members.

Whole genome sequencing refers to testing that systematically reads through each letter of an individual’s genetic code – up to 20,000 genes, or roughly three billion letters. What’s important to realize is that while we know a lot about our genome, there is still much of the genome that we aren’t yet able to interpret. Currently, we understand the function of about 5,000 of our genes – and we can typically link mutations (or mistakes in the code) back to a particular health risk. That information can then be used by people who have had their whole genomes sequenced to guide lifestyle choices, and preventive health decisions. However, as we continue to learn about new genetic discoveries, we are able to unlock additional pieces of the genetic code (without needing additional testing or blood samples). For this reason, we have designed our program to allow individuals access to updated reports over time (the first is complimentary) so they can have the most comprehensive genomic information available to them today, and in the future.

Quality and privacy matters

In order to ensure our clients have access to the highest quality DNA sequencing and analysis, we’ve collaborated with the world-renowned Genome Diagnostics Lab at SickKids hospital to perform this testing. An added benefit of working with an academic institution for this testing is that we can ensure all data and samples remain in Canada, and that your data will not be used for commercial purposes.

Since scientists sequenced the first complete human genome in 2003, many have anticipated the day that anyone and everyone can manage their healthcare based on a fulsome understanding of the information encoded in our DNA. The genetic testing industry has exploded since we achieved that milestone. What is missing, too often, is quality and data privacy.

In the consumer genetics market today, wide variation exists in the quality of DNA sequencing and interpretation. As my colleague has previously written, we urge any individual to use caution and do your research when seeking out genetic testing for the purpose of making health decisions.

Integrated care allows you to take action

As mentioned above, the real value of unlocking your genome comes when you can take meaningful next steps to integrate the information into your medical care. By combining whole genome sequencing with the Annual Health Assessment, and expert guidance from our genetic counselling team, we’re ensuring you have the ability to use these insights to proactively manage your health and wellbeing, with the guidance of experts equipped with the background and context they require to optimize your personalized wellness over the long term.

A new chapter of preventative care is here. The advent of the Genomic Health Assessment represents the most comprehensive way currently possible to step forward into the new world of precision health—a world that allows you, for the first time, to optimize your wellness based on the sequencing of your entire genome.

To arrange a conversation about Medcan’s Genomic Health Assessment, call 416.350.5900.

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