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World of Genomics: Canada

For the latest in the World of Genomics series, we head over to the Great White North and home of THE Santa Claus – more commonly known as Canada. Canada has a long history of discovery in genetics, from the discovery of stem cells and the T-cell receptor to the identification of genes involved in cystic fibrosis and early-onset Alzheimer’s disease. There is an active Canadian research community addressing key questions in genetics as well as ongoing efforts to disseminate information among the workforce and public. Canada is also transforming the patient healthcare experience through the integration of a precision health strategy.

The population of Canada

Located in North America, Canada is the world’s second largest country and a nation of newcomers. It was originally inhabited by Aboriginal peoples, until French and British immigrants colonised Canada in the 17th century. Over the last 60 years, immigration has continued to flourish with people arriving from every corner of the globe. It is expected that the diversity of Canada’s population will increase significantly in the next two decades. It is predicted by 2031, between 25 to 28 percent of the population will be foreign-born. Studying the population of Canada holds the potential to provide great insights into indigenous populations as well as that of immigrants. In fact, a study revealed that the average Canadian has more continental European DNA than the average British, Irish or Scottish individual.

Geographic and demographic information

Summary statistics:

  • Land area: 9,984,670 km2
  • Gross domestic product (GDP):
    • Total: $1.979 trillion
    • Per capita: $51,713

Population statistics:

  • Population size: In 2021, the total population size of Canda was estimated to be 38,048,738.
  • Birth rate: In 2019, the crude birth rate was 9.9 per 1,000 people.
  • Death rate: In 2019, the crude birth rate was 7.6 per 1,000 people.
  • Infant mortality rate: The crude infant mortality rate is 4.44 per 1,000 people.
  • Average life expectancy: The average life expectancy in 2018 was 81.95 years. 
  • Ethnicity: Aboriginal peoples, English and French settlers are the original founding pillars of Canada. Over centuries, immigration has made Canada more diverse with arrivals from many European countries In the 2016 census, 32.3% of Canadians considered their ethnic origin to be Canadian. Other major groups recorded were English (18.3%), Scottish (13.9%), French (13.6%), Irish (13.4%), German (9.6%) and Chinese (5.1%). Canada’s aboriginal people are growing at twice the national rate.

Healthcare system

Canada has a publicly funded, universally accessible healthcare system. Access to healthcare in Canada is based on need rather than ability to pay. Their system, known as Medicare, was born in one province in 1947. It then spread across the country and eventually was harmonised through standards in the Canada Health Act of 1984. Rather than having a national healthcare plan, healthcare in Canada is based on its 13 provinces and territories (each of which has its own unique health insurance plan). Like many other countries, the ageing population and costs of advanced medical technology has put pressure on Canada to control health expenditure. As a result, they have been forced to ration, which has led to delays and poor coverage in the provision of cutting-edge drugs. Another issue that exists within the Canadian healthcare system is long treatment waiting lists, which has been worsened by shortage of personnel and equipment. While there are problems in the system, Canadians tend to view Medicare as a national symbol and prize.

Health priorities

According to 2019 statistics, cancer was the leading cause of death in Canada, accounting for a total of 80,152 that year. The second leading cause of death among both men and women was heart disease. Surprisingly, the third leading cause of death was accidents. Suicide was also in the top ten leading causes of death in Canada, affecting males more than females. It has been reported that one in three Canadians live with at least one of the following chronic diseases: cancer, diabetes and mood and/or anxiety disorders.

Earlier this year, Health Canada released their departmental plan for the year 2021-22. It discussed their plans to develop a national strategy on high-cost drugs for rare diseases, as well as continued efforts to ensure Canadians have access to medications despite increased demand. Another key priority outlined was addressing the persistent opioid overdose crisis. The report highlighted that they will further assist community-based organisations and also work to deliver evidence-based treatments and prevention programs. They also aim to ensure that Canadians have access to appropriate mental health services.

Genomic medicine capabilities

The beginning of medical genetics in Canada really started with Madge Macklin who moved to Canada in 1921 and worked at the University of Western Ontario. Here, she coined the field’s name in 1932. Despite her participation in the eugenics movement, Macklin is still considered the ‘founding mother’ of medical genetics. From then, the field of medical genetics took hold from the opening of the first genetic counselling clinic in 1947 to the recognition by the Royal College of Physicians and Surgeons (Canada) of medical genetics as a free-standing medical speciality in 1989.

Canada has one of the longest-standing genetics professional speciality organisations (The Canadian College of Medical Geneticists). It is also one of the few countries that offer specialised training, including a master’s level degree for genetic counselling.

Genetic testing in Canada is typically performed in provincial laboratories or outside of the country. Most genetic centres in Canada are primarily linked to academic settings. With genomics becoming more prevalent, there have also been several efforts to develop more extensive patient and family information i.e., the Genetics Education Project.

Newborn screening for phenylketonuria was first introduced in 1963 in Prince Edward Island and expanded to the rest of the country by 1970. Congenital hypothyroidism was added throughout the country in the mid-1970s. Since then, variations have emerged across provinces and territories.

The Society of Obstetrics and Gynecology of Canada recommends that all pregnant women should be offered a range of prenatal screening tests to identify pregnancies at risk of specific chromosome abnormalities and open neural tube defects. These tests were previously only offered to women 35 years and older but have now been extended to all age groups. Screening practices and performance parameters differ across jurisdictions. Uptake also varies by maternal preferences, provider practices and maternal sociodemographic characteristics.

Despite the great promise that genome editing techniques such as CRISPR/Cas9 hold, ethical and social concerns have restricted their use in Canada. Canada has some of the most restrictive gene editing laws in the world. For example, under the Assisted Human Reproduction Act of 2004, gene editing on inheritable genes is a criminal offence, punishable by up to 10 years in prison.

Notable projects

  • Canadian COVID-19 Genomics Network (CanCOGeN): Launched by Genome Canda in April 2020, CanCOGeN aims to establish a network for large-scale SARS-CoV-2 and human host sequencing data to track viral origin, spread and evolution, as well as to characterise the role of human genetics in COVID-19 disease.
  • Personal Genome Project (PGP) Canada: PGP-Canada was launched in 2012 and shares the guiding principles and open consent policy of the parent project in the US. It aims to develop a public dataset of fully annotated genomic information linked to human trait information.
  • The FORGE (Finding of Rare Disease Genes) Canada Consortium: The FORGE Canada Consortium began in 2011 with the objective to rapidly identify genes associated with a wide spectrum of rare paediatric-onset single-gene disorders present in the Canadian population.
  • Genome Canada’s All for One initiative: The All for One initiative aims to improve the health and wellness of Canadians with serious genetic conditions by enabling access to a timely and accurate genomic-based diagnosis. Part of this initiative is a clinical implementation project that will facilitate the uptake of genome-wide sequencing as a standard of care for rare diseases.

Notable organisations and companies

  • Genome Canada: Founded in 2000, Genome Canda is a not-for-profit organisation funded by the Government of Canada. It aims to act as a catalyst for developing and applying genomics to create benefits for Canadians. There are currently six regional genome centres in Canada that receive funding from Genome Canada: Genome British Columbia, Génome Québec, Ontario Genomics, Genome Alberta, Genome Prairie and Genome Atlantic.
  • The Canadian College of Medical Geneticists (CCMG): The CCMG is one of the oldest genetics specialty organisations, credentialing clinical and laboratory geneticists since its inception in 1976.
  • The Ontario Institute for Cancer Research (OCIR): The OICR is a not-for-profit organisation established in 2005 with a focus on the prevention, early detection, diagnosis and treatment of cancer. 
  • The Centre for Applied Genomics: This genome centre was founded in 1998 and is based in the Research Institute of The Hospital for Sick Children, and is also affiliated with the University of Toronto. Research at TCAG focuses on the genetic and genomic basis of human variability, health and disease, with an emphasis on the use of NGS and bioinformatics support.
  • The Structural Genomics Consortium (SGC): SGC is a public-private-partnership founded in 2003 focussed on elucidating the functions and disease relevance of all proteins encoded by the human genome.
  • DNA Genotek Inc.: DNA Genotek Inc. is a leading provider of products for biological sample collection, stabilisation and preparation that was established in 1998.

Notable individuals

There are many individuals born or immigrated early to Canada who have had a significant impact on the genetics field. Below are just a few of these individuals:

  • Charles Scriver (1930-): Scriver is a Canadian paediatrician and biochemical geneticist who has made many important contributions to our knowledge of inborn errors of metabolism. He also led in establishing a nationwide newborn metabolic screening program.
  • Stephen W. Scherer (1964-): Scherer is a Canadian scientist who alongside Lap-chee Tsui founded Canada’s first human genome centre – TCAG. His discoveries also led to the initial description of copy number variations (CNVs) and the frequency of these events. Scherer and colleagues also launched the Personal Genome Project Canada in 2012.
  • Johanna Rommens: Rommens is a Canadian geneticist who was on the research team which identified and cloned the CFTR gene (responsible for causing cystic fibrosis).
  • Phyllis McAlpine (1941-1998): McAlpine was a Canadian geneticist and pioneer in mapping the human genome. She also served as Chair of the HUGO Gene Nomenclature Committee, recognising the importance of standardised nomenclatures.
  • Tak Wah Mak (1946-): Mak is a Canadian medical researcher, geneticist, oncologist and biochemist. He became widely known for his discovery of the T-cell receptor in 1983 and the discovery of the function of CTLA-4 in 1995.
  • Thomas J. Hudson (1961-): Hudson is a Canadian genome scientists known for his leading role in the generation of physical maps of the human and mouse genomes as well as his role in the International HapMap Project.
  • Carolyn J. Brown (1961-): Brown is a Canadian geneticist and Professor at the University of British Columbia. Brown is known for her work on X-chromosome inactivation, having discovered the human XIST gene in 1990.

Next steps

With the breadth of diversity and the minds of some of the greatest geneticists, Canada is the perfect place to study genomics and implement genomic medicine. Nonetheless, several challenges remain to ensure that genomics is deployed appropriately. For the benefits of genomics to be effective within clinical practice, the genomic literacy of healthcare professionals must be advanced. In addition, access to clinical genomic testing across Canada is currently inconsistent, which is often correlated with socioeconomic and/or regional differences.

The launch of the All for One initiative has laid the foundation for precision medicine in Canada and aims to address some of these key issues. The framework established will also support connecting projects and institutions within the All for One initiative, while enabling partnership with other national initiatives.

Earlier this year, Genome Canada also announced investment into five applied genomics research projects that will improve the well-being of Canadians. The research will focus on the following:

  • Early detection and better treatment for atrial fibrillation.
  • A profiling tool to better understand the unique progression of breast cancer.
  • Delivering genomics-based precision health services to children as part of the All for One initiative.
  • Using genomics to breed better soybeans (the third most important crop in Canada).
  • Developing an early warning system for identifying gill disease in salmon farms.

Continued investment in genomics research and collaborations among academic, industry, healthcare and other partners will not only improve the lives of Canadians but will also help Canada recover and stay competitive in a post-pandemic economy.


  • Little J, Potter B, Allanson J, Caulfield T, Carroll JC, Wilson B. Canada: public health genomics. Public Health Genomics. 2009;12(2):112-20.
  • Leeming W. The early history of medical genetics in Canada. Social History of Medicine. 2004 Dec 1;17(3):481-500.
  • Martin D, Miller AP, Quesnel-Vallée A, Caron NR, Vissandjée B, Marchildon GP. Canada’s universal health-care system: achieving its potential. The Lancet. 2018 Apr 28;391(10131):1718-35.
  • Irvine B, Ferguson S, Cackett B. Healthcare Systems: Canada. Civitas, January. 2013.