DNA Day 2023

DNA Day 2023: A Call for Diverse Genomic Datasets – Time for Canada to Step Up

By: Naveed Aziz, CEO, CGEn

Diverse, large-scale health genomic resources are key to realizing the true potential of research, and to fully exploit the power of new health technologies based on artificial intelligence (AI), to improve health for all. The data these resources hold is used to identify and study genetic variations associated with disease, which in turn can enable clinicians to provide personalized care to patients based on their genetic makeup, known as Personalized Medicine.

However, the lack of diversity in population genomic data has been a systemic challenge; the research community must work collaboratively with underserved communities to integrate inclusion and diversity in all aspects of study designs to advance health equity.

Until recently, genomic datasets have been largely limited to individuals of European descent, leaving out other ancestries and populations. This lack of diversity can have serious implications for downstream health research and care. For example, treatments and therapies developed for one population may not be as effective across all populations, while groups underrepresented in the data are potentially missing out on tailored care. All of this compounds established and existing socially determined health care disparities.

In Canada, researchers currently lack access to a large-scale human genomic resource that is fully representative of our population. While Canadian investigators can access data from the UK Biobank, 94% of its participants self-identify as White British or other White background. The United States’ AllofUs initiative data is more diverse, but it is currently only available to US-based researchers.

Canada is a country of immense diversity, composed of people from a variety of backgrounds, including Indigenous peoples, immigrants, and refugees. In fact, the 2021 Census reported more than 450 ethnic and cultural origins, 200 places of birth, 100 religions and 450 languages. The ability to research Canadian population-level data would provide a unique opportunity to study the effects of variations in genetic backgrounds on research outcomes and provide insights into the disparities arising from diverse cultural and social contexts.

Recently, CGEn’s HostSeq Initiative, funded through Genome Canada’s CanCOGeN network, built a national databank that includes the genomes of over 10,000 Canadian residents impacted by COVID-19 along with in-depth clinical data. HostSeq demonstrated that Canada is capable of generating human genomic data at-scale and produced a blueprint for genomic health data sharing, analysis and access. 

Through community partnerships and inclusion of diverse groups within study teams, Canadian researchers have begun to make in-roads with previously underrepresented populations to engage in genomics and other research. These partnerships must be built upon when considering a Canadian genomic data generation project at a population scale. The AllofUs initiative, as an example, has prioritized diversity and inclusion with dedicated participant engagement teams working within communities to enrol participants from previously underrepresented groups.

We now have the tools to organize and mine genomic data at scale. AI-based tools are being developed and used across sectors – including health care. In the context of large-scale genomic and health data, AI can help maximize its use and impact by providing insights that would otherwise be difficult to uncover. For example, predictive models can be developed for the identification of individuals at risk for certain diseases or conditions, or to inform personalized treatments based on an individual’s genetic profile, including identifying new therapeutic targets and drug candidates.

Canada must ensure it has access to the necessary data to support AI research and maintain its competitive edge in this area, as the accuracy of AI models is dependent on the data used to train them and in order to produce AI-based genomics tools that will be effective across a population, large-scale, high-quality and diverse data resources are needed. At the same time, even the best AI models can be difficult to interpret and explain, and further research into the ethical and legal implications of using AI in genomics research is greatly needed to ensure our health care systems are equipped to properly and equitably implement them.

The future of genomics in personalized medicine is bright and full of possibilities for Canada. Genomic testing has already revolutionized the diagnosis and treatment of many diseases, and it will become even more valuable in health care, if supported by research based on large-scale diverse data and other technology developments. The resulting more precise, targeted, and effective treatments provided to patients, will lead to better outcomes and health care system efficiencies and savings.

In the last 5 years, the Federal government has invested in CGEn, building and supporting the large-scale infrastructure required to produce health data at scale. However, Canada is lagging behind other countries in capturing its genomic diversity due to a lack of funding and resources dedicated to the collection and analysis of genomic health data at a population-scale. We must build a foundation of diverse and equitable datasets and research that is inclusive and representative of the diversity within the Canadian population. I urge all of us to take action now to prioritize the ethical, legal, and social implications of genomics in health care and to work to ensure equitable access to personalized medicine for all patients.

Finally, we must collaborate across different fields and sectors to bring together the expertise and resources needed to advance personalized medicine in Canada. This includes healthcare providers, researchers, policymakers, industry leaders, patient advocates, representatives from equity-deserving groups and other stakeholders. By working together, we can unlock the full potential of genomics to improve health care and provide better outcomes for patients. On DNA Day, let us take this call to action to help create a future where personalized medicine is expected, and every Canadian receives the best possible care based on their unique genetic makeup.

CGEn CEO Announcement Aug 4, 2021

CGEn CEO Announcement

The Board of Directors and Executive Committee of CGEn, Canada’s national platform for genome sequencing and analysis, is pleased to announce the appointment of Dr. Naveed Aziz as Chief Executive Officer effective June 1, 2021.

Dr. Aziz has served as CGEn’s Chief Administrative & Chief Scientific Officer, since 2017. Under his stewardship, CGEn has grown into a multi-million-dollar genomics enterprise that supports genome sequencing studies across many human diseases and genome analysis of all other species. As one of the largest data producers in the world, CGEn has also built the underlying informatics infrastructure to house and decode complex genomic data. Most recently, CGEn leads the $20M “Host-Seq” project funded by the Government of Canada, sequencing the genomes of 10,000 people affected with COVID-19 to search for the genetic factors influencing the wide-range of response to infection.

Dr. Aziz holds a PhD in Gene Targeting from University of Dundee, UK, MPhil in Biotechnology and Executive MBA from Bradford School of Management, UK. His previous roles include serving as the Director of Technology programs at Genome Canada, Head of Genomics at University of York, UK and as Research Fellow at the Noble Research Institute, USA.

About CGEn

CGEn is a federally funded national platform for genome sequencing and analysis. Established in 2014, CGEn employs over 200 staff, funded by the Canada Foundation for Innovation (CFI) through its Major Science Initiatives Fund, leveraging investments from Genome Canada and other stakeholders. CGEn operates as an integrated national platform with nodes in Toronto (The Centre for Applied Genomics at The Hospital for Sick Children), Montréal, (McGill Genome Centre at McGill University) and Vancouver (Canada’s Michael Smith Genome Sciences Centre), providing genomic services, including genome sequencing and analysis, that enable research in agriculture, forestry, fishery, the environment, health sciences, and many other disciplines of interest to Canadians.

Biogenome

CGEn-led Canadian genomics team joins international initiative to study and protect global biodiversity.

Every spcies on Earth possesses a characteristic genome, shaped by millions of years of evolution. Through the study of genomes—the complete genetic and inheritable information of an organism—we can explore life’s diversity, better understand how species are related, how they develop together to create ecosystems, foster conservation, and uncover the biology of health and disease for all living things. 

The Earth BioGenome Project aims to resolve in detail the genomes of all complex life on Earth. With new funding of approximately $6.5 million, Canada is now joining this global initiative through the Canadian BioGenome Project, led by Dr. Steven Jones, Scientific Director of CGEn-Vancouver node and Co-Director and Head of Bioinformatics for Canada’s Michael Smith Genome Sciences Centre (GSC; part of the BC Cancer Research Institute) and Dr. Maribeth Murray, Director of the Arctic Institute of North America at the University of Calgary. Other CGEn scientists included in the project team are Dr. Stephen Scherer, Scientific Director of CGEn-Toronto node and Chief of Research at Hospital for Sick Children, Toronto, and also, Dr. Ioannis Ragoussis, CGEn-Montreal node at McGill Genome Centre.

“Sequencing the genomes of Canada’s plants and animals is a massive proposition that requires significant scientific collaboration—one with enormous benefits not only for better understanding the evolution of life itself but in uncovering fundamental principles of health and disease, for individuals and populations,” says Dr. Jones, who is also a Scientific Director of CGEn Vancouver node. CGEn is a federally funded national platform for genome sequencing and analysis with nodes at the GSC, The Centre for Applied Genomics at Hospital for Sick Children, Toronto and the McGill Genome Centre. “We are proud to contribute CGEn’s expertise and technology to this important endeavor, which has been made possible through substantial recent advances in genome sequencing technology and computational biology.”

Canada possesses significant biodiversity, having approximately 80,000 plant and animal species in environments ranging from desert to the arctic. Many of these species are under threat due to rapid changes in climate and other human-led impacts on our environment. In collaboration with scientists, Indigenous peoples and conservation groups, this project will embark on the task of determining the genetic diversity of Canada’s plants and animals through genomic sequencing.

In 2018, CGEn launched the CanSeq150 program to perform de-novo genome assemblies for 150 species deemed important to Canada’s biodiversity and conservation. The program has sequenced species ranging across the various classes of animals (vertebrate and invertebrate) and plants with economic, cultural, social or environmental significance to Canada. More than 100 species are already selected for sequencing through the CanSeq150 program. The CanSeq150 program has provided a platform for biologists, ecologists, population geneticists and other scientists who have in-depth knowledge and expertise in species of interest to work with genomic scientists to generate valuable data that can help advance research in important biological and conservation related areas. The addition of this Canadian arm of the Earth BioGenome project will lead to tangible benefits to Canada in wildlife conservation, recovery and monitoring.

“Genome BC recognizes the urgent need to develop and address international systems to monitor and protect our rapidly changing environment,” says Dr. Federica di Palma, Chief Scientific Officer and Vice President, Sectors. “Applications of this data are real-time, and it builds on our strengths in genome sequencing in this province.”

Initially the project will identify approximately 400 species that would benefit from a fully sequenced genome. The species will be selected based on existing and established priorities of Indigenous peoples, federal and provincial organizations, academic scientists and other conservation and wildlife groups.

Through a case study approach, the team will also work with partners to establish priorities for genomics tools development, policy recommendations for the use of genomics to maintain biodiversity and support conservation and management, and a user-friendly geospatial platform of genomics data and information from the project. The data generated will also be freely available to scientists in Canada and worldwide.

This project was funded through Genome Canada’s 2020 Large-Scale Applied Research Project Competition: Genomic Solutions for Natural Resources and the Environment.

CGEn’s Response to COVID-19

CGEn’s Response to COVID

Over the last few months CGEn through its nodes in Toronto, Montreal and Vancouver have joined the fight against COVID-19 by leveraging our best resources – our people, expertise and infrastructure.  As many research laboratories, companies and government agencies are laser focused on finding ways to stop the spread of COVID-19, CGEn is doing its part both collectively and individually. Here is a brief summary of CGEn’s ongoing response to COVID-19:

  1. CGEn will lead Canada’s COVID-19 host genome sequencing initiative as part of Genome Canada’s newly launched Canadian COVID Genomics Network (CanCOGeN). An investment of $20 million from the federal government will enable this initiative which includes sequencing 10,000 Canadians affected by COVID-19.
  2. CGEn is working with strategic partners to develop databases and tools to store and share COVID-19 related genomic data to researchers and public health agencies globally
  3. CGEn-Montreal is leading the set up and management of the province wide COVID-19 biobank
  4. CGEn-Toronto, through strategic partnerships with the McLaughlin Centre at University of Toronto, is assisting investigators access COVID-19 research funding to conduct critical studies
  5. CGEn-Vancouver is assisting the province of British Columbia Centre for Disease Control by developing and implementing automated high throughput viral nucleic acid extraction and investigating alternate sustainable reagent sources. They are also conducting naso-pharyngeal metagenome analysis for the presence of microbial species that may influence disease trajectory
  6. All three CGEn nodes have made safeguarding of staff a priority with strict social distancing measures in place, and non-essential staff working from home
  7. CGEn Toronto and CGEn-Vancouver continue to support important non COVID related research especially in cancer and paediatric development
  8. CGEn is supporting scientists across the country to apply for the many newly launched COVID-19 related grant funding programs.

COG-UK Partnership

The COVID-19 Genomics UK (COG-UK) consortium and the Canadian COVID Genomics Network (CanCOGeN) launch new partnership

COG-UK and CanCOGeN are working together to share knowledge and protocols

News announcement: 4 May 2020

The COVID-19 Genomics UK (COG-UK) consortium is collaborating with the newly formed Canadian COVID Genomics Network (CanCOGeN) as it launches a national sequencing network to monitor the pandemic’s development.  By sharing knowledge, lessons learned and protocols , the initiatives will each support national efforts to coordinate the work of healthcare, public, private and academic organisations to sequence and analyse the spread and evolution of the SARS-CoV-2 virus and how it affects patients. The partnership will also allow both groups to share insights and discoveries to drive understanding of the pandemic as it changes over time.

For further details, click here.

NR-April-23-2020

CGEn joins Canada’s fight against COVID-19 with the launch of Canada’s COVID-19 Host Genome Sequencing Initiative

CGEn will receive $20 million in Federal funding to sequence the genomes of thousands of Canadians, in order to better understand the variable clinical response to COVID-19.

April 23, 2020 – OTTAWA, Ontario – Following an announcement by Prime Minister Justin Trudeau, the Federal Government is committing $40 million to support Genome Canada’s launch of the newly formed Canadian COVID Genomics Network (CanCOGeN). This investment includes $20 million in funding to CGEn, Canada’s national facility for genome sequencing and analysis, to lead a nation-wide Host Genome Sequencing Initiative with the aim to sequence genomes of 10,000 Canadians affected by COVID-19.

As the national and global data on the infection and disease burden evolve, the risk factors for severe illness are still being established. Older patients and those with chronic medical conditions appear to have higher risk, although disease severity varies among individuals with similar levels of exposure. This implies an important role played by the human host genome in response to the virus.

“This investment will allow CGEn to harness the power of our Canadian genomics infrastructure to explore the genetic architecture of the human genome”. said Dr. Naveed Aziz, Chief Administrative & Chief Scientific Officer at CGEn. “Canada’s COVID-19 Host Genome Sequencing Initiative promises to generate new knowledge and provide much-needed data to support diagnosis, prognosis, and treatment of this devastating pandemic, and those that will surely follow”.

CGEn’s team of renowned researchers from across Canada will work together to decode the genomes of thousands of Canadians across the country, who have been infected with the virus causing COVID-19, or are still at risk of infection. CGEn will develop and bring access to an information-rich, national database which will serve as a resource to catalyze national and international research to help determine why people experience vastly different health outcomes.

“The emergence of COVID-19 at the footsteps of SARS and MERS highlights a significant issue –   that there will be similar outbreaks of severe infectious disease in the future. This investment from the Government of Canada addresses the current COVID-19 outbreak, prepares Canada for a possible re-emergence, and lays the foundation to handle future pandemics”, says Dr. Stephen Scherer, CGEn Principal Investigator and Professor of Genome Sciences at the Hospital for Sick Children and University of Toronto.

Canada’s COVID-19 Host Genome Sequencing Initiative will be led by CGEn, a national platform for genome sequencing and analysis, developed to be response-ready to large-scale Canadian scientific challenges. CGEn has already developed regional, national, and international linkages to ensure that this project will have maximal impact for the health of Canadians.

“CGEn brings to the CanCOGeN partnership table the ability to undertake host genome sequencing on an unprecedented scale. Understanding the disease burden – why in some cases people get very sick and others do not – is essential in helping us identify individuals at highest risk and take proactive measures to protect them and the frontline workers treating them. These measures could include more targeted, patient-specific therapies as well as better public health policies in preparation for secondary waves or future pandemics,” said Dr. Rob Annan, President and CEO, Genome Canada.

CGEn scientists were the first to sequence the SARS genome in 2003 and determine it to be a coronavirus. This funding will further Canada’s salient contributions to our understanding of the genetic interactions and genomics of coronavirus infection” said Dr. Steven Jones, Principal Investigator CGEn-Vancouver node and Co-Director & Head, Bioinformatics, Genome Sciences Centre, while Mark Lathrop, Principal Investigator CGEn-Montreal node and Professor, Human Genetics, McGill University added “This initiative highlights the importance of the government’s investments in national research infrastructures such as CGEn which are necessary to assure that Canada can respond to globally important challenges including health dangers such as COVID-19”.

About CGEn

CGEn, funded primarily by the Canada Foundation for Innovation (CFI) and Genome Canada, and leveraging investments from other stakeholders, is a genome sequencing and analysis network operating as an integrated national platform with nodes in Toronto (The Centre for Applied Genomics at The Hospital for Sick Children), Montréal, (McGill Genome Centre at McGill University) and Vancouver (Canada’s Michael Smith Genome Sciences Centre). CGEn’s mission is to enable Canadian science in basic and clinical research through the characterization of genome sequences, the promotion of genome research in Canada, and by building and operating an unprecedented infrastructure that enhances our national capacity for sequencing and informatics analysis.

CGEn Year in Review: Highlights of 2019

CGEn Year in Review: Highlights of 2019

Enabling Canadian leadership in genomics research by supporting world-class research or technology development

  • In 2019, using the infrastructure funded by the Canadian Foundation for Innovation (CFI), CGEn completed the delivery of over 18,000 whole genome, 39,500 transcriptome, 5,359 exome, and 110,611 other genome-wide experiments on biosamples from Canadian research projects, including human and non-human studies.
  • CGEn’s flagship  CanSeq150 program, committed to de novo sequencing of 150 novel Canadian species, has now selected over 90 species as individual projects. Data delivery is complete for some and sequencing is now well underway for many other projects. See full list of projects here.

CGEn scientific leaders acknowledged for their contributions through prestigious awards and recognitions.

  • Dr. Stephen Scherer, (Scientific Director, CGEn-Toronto) was awarded the Killam prize in health sciences. Dr. Steven Jones (Scientific Director, CGEn-Vancouver) was awarded the first Tier 1 Canada Research Chair in Computational Genomics and Dr. Marco Marra was awarded the Don Rix Award for Lifetime achievement by Life Sciences BC.
  • CGEn investigators Dr Steven Jones and Dr Marco Marra were named on the highly cited list in 2019

CGEn researchers made significant scientific contributions to genomics research and precision medicine

  • The Autism MSSNG project reached its initial goal of sequencing more than 10,000 whole genomes of individuals with autism and their family members, creating the world’s largest open-source precision medicine database specific to understanding autism.
  •  Exciting high-impact research findings from all three nodes have been disseminated through peer-reviewed publications. A few examples of such findings are the development of single-cell sequencing approaches to detect changes in Cancer, identification of predictive markers for early diagnosis of Autism, and single-cell transcriptomics to define developmental mechanisms in Childhood Brain Tumors.

Mark Caulfield

Mark Caulfield, Genomics England interim CEO & CGEn’s Board of Directors member awarded knighthood in the Queen’s birthday honours.

Professor Mark Caulfield, the interim Chief Executive at Genomics England and Professor of Clinical Pharmacology at Queen Mary University of London, has been awarded a knighthood in the Queen’s Birthday Honours List.

Since 2013 Professor Caulfield has been instrumental in delivering the world-leading 100,000 Genomes Project, which hit its target of sequencing 100,000 whole genomes in 2018 and has already delivered life-changing results for patients.

This NHS transformation programme used whole genome sequencing to bring new diagnoses to people with rare diseases and to help choose cancer therapies.

To increase the value for participants in the project, Professor Caulfield established a coalition of 3,000 researchers worldwide and assisted the NHS in the creation of the National Genomic Test Directory. This will offer equitable access for 55 million people, depending on clinical need, to the appropriate genomic tests via a new National Genomic Medicine Service.

For further details, click here.

GrizzlyBear

Canseq150 helps Canadian scientists map the Grizzly genome.

Among the largest predators in country, the Grizzly bear now has another claim to fame: the most complete genetic map for its species. Within 37 pairs of chromosomes composed of about 2.3 billion nucleotide base pairs, scientists have now revealed the location of 19,848 coding genes, 7,061 non-coding genes, 3,671 pseudo-genes, and more, within the Grizzly genome.

The Grizzly bear DNA was sequenced from a 20-year old male named Samson. He was found as an orphan in Alaska in 1998, when he was less than a year old, rescued and then raised at the Alaska Children’s Zoo. He now lives at the Toronto Zoo. The blood sample donated to the GSC was collected during a routine physical exam.

Published in the journal, Genes, the sequencing effort was performed at Canada’s Michael Smith Genome Sciences Centre at BC Cancer, a leading international centre for genomics and bioinformatics research. Dr. Steve Jones, GSC Co-Director and Head of Bioinformatics, was the Principal Investigator.

CanSeq150

Canada’s Genomics Enterprise launches CanSeq150 to lay the foundation for Canada’s next 150 years of science.

To commemorate the 150th Birthday of Canada in 2017 and to lay the foundation of Canadian excellence in research for the next 150 years, Canada’s Genomics Enterprise (CGEn) and its partners are embarking upon the Canada 150 Sequencing Initiative (CanSeq150). The aim is to sequence 150 new genomes to support sequence-based genomics research in Canada by enabling future research in biodiversity and conservation, applications in breeding and biomedicine, as well as technology development, across Canada.

For further details, please click here.