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Unleashing the Potential: The Transformative Role of Artificial Intelligence in Precision Medicine

December 12, 2023Unleashing the Potential: The Transformative Role of Artificial Intelligence in Precision Medicine By: Shantala Hari Dass From left to right: Dr. Naveed Aziz, Fanny Sie, Dr. Devin Singh, Dr. Tracie Risling Introduction: The landscape of health care is on the cusp of transformation, and Artificial Intelligence (AI) holds the key to revolutionizing patient outcomes, refining clinical decision-making, and streamlining costs. However, this transformative potential is accompanied by a set of challenges and ethical considerations that demand careful consideration. CGEn curated an insightful panel discussion on November 13, 2023, at the Canadian Science Policy Centre’s annual conference in Ottawa, titled ‘The Role of Artificial Intelligence in Delivering Precision Medicine of the Future’, moderated by Dr. Naveed Aziz, CEO at CGEn. Renowned panelists—Dr. Devin Singh, Emergency Medicine Physician and Clinical Lead in Artificial Intelligence and Machine Learning at SickKids, Dr. Tracie Risling, Associate Professor in the Faculty of Nursing at The University of Calgary, and Vice-President of the Canadian Nurses Association, and Fanny Sie, Head of AI and Emerging Technology External Collaborations at Roche Global Integrated Informatics—shared profound insights into the opportunities and challenges presented by the integration of AI into precision medicine, with a focus on ethical, regulatory, and societal implications. This report encapsulates key take-aways and poignant quotes from the discussion. Three Key Takeaways: 1. Innovation in Policy for AI in Precision Medicine: There is an urgency to innovate policies governing the implementation of AI solutions in precision medicine. This sets the tone for the broader discussion on adapting regulatory frameworks to unlock potential benefits. A unified approach would contribute to mitigating potential risks and fostering a secure pipeline for AI industry development. “It would be nice for the Federal Government to come up with a broad implementation strategy that can be adjusted and adopted in Provinces and Territories across the country.”– Fanny Sie “There is an opportunity for Canada to learn from policy models in the US and EU to mitigate potential harms and build a pipeline for the industry that is deeply aligned with citizen privacy.”- Devin Singh 2. Collaborating to Build AI Tools for Precision Medicine: How well-informed is the general public in Canada about AI and precision medicine? This question is pivotal, considering the collaborative efforts required between patient partners and practitioners in co-designing solutions. These AI tools should be built in collaboration and cooperation with patients and healthcare professionals such as doctors and nurses. In this process, we must caution against making assumptions based on social determinants of health, stressing that individuals facing challenges like food insecurity or lack of housing can still be valuable contributors to the development and implementation of emerging technologies. The gaps extend to the workforce as well with the massive gaps in education around ethical AI use. Concerns were raised about creating a workforce ill-equipped to implement AI solutions effectively and equitably, stressing the need for comprehensive education. “We need a better handoff between academic research outputs and industry to get Canadian-made technology/AI solutions into the Canadian healthcare system”- Fanny Sie “For an effective implementation of AI in health care, you need practitioners with IA – intelligence amplification. AI won’t replace practitioners, but it will be on the shift with them,” – Tracie Risling 3. Diversity and Sustainability in AI Implementation: AI is pushing the diversity question to the forefront, necessitating attention in ways that previous technologies did not. However, the lack of reflective data from these diverse communities has hindered the capitalization of this potential. “Canada has some of the most diverse communities in the world whose expertise and data can be used to build equitable AI tools“- Devin Singh “If you want scale and sustainability, you need long-term engagement of patients and practitioners, and trust.” – Tracie Risling Conclusion: The CGEn panel has illuminated the intricate landscape of AI’s role in the future of precision medicine. The discourse navigated through the urgent need for policy innovation, the imperative of closing educational gaps, and the importance of data reciprocity to empower patients. The panelists stressed that diversity is not just a checkbox but a catalyst for developing equitable AI tools. Furthermore, multidisciplinary collaboration and trust emerged as critical elements for scaling AI initiatives in healthcare. As we forge ahead, learning from global policy models and establishing a broad federal implementation strategy could position Canada at the forefront of AI-driven precision medicine. Summarising the need for such discussions, Naveed Aziz highlights,” In the realm of precision medicine, the transformative alliance of AI beckons for a thoughtful discourse—a vital conversation that navigates the potential benefits, ethical considerations, and necessary policies to ensure responsible and impactful integration for the betterment of health care. These cannot be one-off events but instead, ongoing dialogues that inform policy, practice, and implementation at all levels.” The panel discussion at the Canadian Science Policy Centre’s annual conference has not only fostered an essential dialogue but also charted a course for the future of healthcare outcomes for all Canadians. [...] Read more...

DNA Day 2023

April 25, 2023DNA 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. [...] Read more...

Dr. Edward M. Rubin joins prestigious Royal Society of Canada as International Fellow

September 7, 2022Dr. Edward M. Rubin joins prestigious Royal Society of Canada as International Fellow Chair of CGEn’s Scientific Advisory Board, Dr. Edward M. (“Eddy”) Rubin has been named a Fellow of the prestigious Royal Society of Canada (RSC) in recognition of his long-term contributions to advancing genomics internationally. Dr. Edward M. Rubin RSC Fellows are elected by their peers for their outstanding scholarly, scientific and artistic achievement. Recognition by the RSC is the highest honour an individual can achieve in the Arts, Social Sciences and Sciences. Dr. Rubin is one of 102 new 2022 RSC Fellows. “Edward Rubin pioneered laboratory and computational technologies as part of the Human Genome Project, to sequence and analyze human chromosomes 5, 16 and 19. He then decoded these complex data, comparing DNA sequences between species to discover genes of pivotal evolutionary and biomedical importance. Throughout, Professor Rubin has generously shared his knowledge with Canadian scientists and been a champion of their research worldwide,” states the RSC. “Canadian science is indebted to Eddy’s long-term contributions to advancing genomics internationally through his own research, and more specifically in Canada through sharing his wisdom and vision while sitting on many national advisory boards in our country, including CGEn’s Scientific Advisory Board,” says Dr. Naveed Aziz, CEO, CGEn. “On behalf of CGEn, I congratulate Eddy on this well-deserved honour by the Royal Society of Canada, and thank him for his continued leadership and commitment to CGEn’s scientific excellence and impact.”The RSC will welcome the new 2022 RSC Fellows in November at the RSC Celebration of Excellence and Engagement in Calgary, Alberta. [...] Read more...

CGEn receives $48.9 million in federal funding through the Canada Foundation for Innovation’s Major Science Initiatives Fund

August 19, 2022CGEn receives $48.9 million in federal funding through the Canada Foundation for Innovation’s Major Science Initiatives Fund August 19, 2022, TORONTO – From deepening our understanding of climate change to diagnosing rare diseases, to developing targeted treatments for hard-to-cure cancers, new research will unlock the potential for a healthier, more resilient and sustainable future for Canadians thanks to renewed investments in genomics infrastructure in Canada. Announced today by the Honourable François-Philippe Champagne, Minister of Innovation, Science and Industry, CGEn, Canada’s national platform for genome sequencing and analysis, has been granted $48.9 million from the Canada Foundation for Innovation (CFI) through the 2023 Major Science Initiative (MSI) Fund Competition. “This new investment from the Government of Canada will enable CGEn to harness the power of large-scale genomics and support the scientific community from coast to coast,” says Dr. Naveed Aziz, Chief Executive Officer, CGEn. As Canada’s national platform for genome sequencing and analysis, CGEn provides genomics services to a wide range of projects led by principal investigators across the country, working in a wide variety of sectors including health, environment, forestry, fishing, agriculture, and other areas important to Canada and its research community. “Genomics is transforming medical and life science research here at The Hospital for Sick Children (SickKids) and across the country and will underpin Canada’s greatest scientific discoveries to come. Today’s investment will enable Canadian researchers to access and expand the use of genome analysis to address important biological questions at a pace we’ve never seen before,” says Dr. Stephen Scherer, Scientific Director, CGEn-Toronto, Director, The Centre for Applied Genomics (TCAG) at SickKids and Professor of Genome Sciences, University of Toronto. “The Government of Canada’s investment in CGEn today will not only help to sustain current research, but will also serve as a catalyst for innovative genomics research that may lead to new discoveries and breakthroughs that will be of value to all Canadians in the future,” says Dr. Mark Lathrop, Scientific Director, CGEn-Montreal, Professor of Human Genetics and Scientific Director, McGill Genome Centre, McGill University. “This renewed funding for CGEn will help to ensure that Canada’s scientific community will continue to have access to the latest, cutting-edge technology, advanced training and expertise, and ensure Canada is poised to handle future challenges requiring large-scale genomics,” says Dr. Steven Jones, Scientific Director, CGEn-Vancouver, Director, Head of Bioinformatics and Distinguished Scientist, Canada’s Michael Smith Genome Sciences Centre, BC Cancer. With this renewed support from the Government of Canada through the CFI, CGEn is poised to embark upon the next stage of its strategic vision, continuing to provide the leading genomic infrastructure for Canada’s research and innovation community, while also helping to solidify Canada’s position as a genomics world leader by training the next generation of Canadian genome scientists and collaborating with other major centres to push the field even further. “We remain committed to our vision and core values of providing essential infrastructure and expertise to enhance, accelerate and support genomics research in Canada. We are grateful for CFI’s support to continue our work with partners and stakeholders to forge a path towards a healthier and more sustainable future for all Canadians through the power of genomics,” says Aziz. For more information about the CFI MSI 2023 awards, please visit the CFI website. About CGEn Established in 2017 as a CFI MSI, CGEn is comprised of three nodes: The Centre for Applied Genomics, The Hospital for Sick Children (SickKids), Toronto; McGill Genome Centre, McGill University, Montreal; Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver. More than 200 CGEn staff serve close to 3,000 distinct laboratory teams, have authored over 670 scientific publications, and the data and support CGEn has provided has helped to train more than 16,000 highly-qualified personnel since CGEn’s inception. With a mandate to make cost-effective and high-quality genome sequencing a reality for all Canadian researchers, CGEn provides services to projects funded by Canadian funding agencies like Genome Canada, the Canadian Institutes of Health Research (CIHR), the Natural Sciences and Engineering Research Council (NSERC) as well as other internationally-funded projects. CGEn’s intensive work with academics, industry and government has substantiated the power of genomics, enabling research and development in Canada and beyond. Media contact: Hillete Warner, CGEn hillete.warner@cgen.ca [...] Read more...

DNA Day: CGEn Celebrates 10,000 Human Genomes in the Canadian HostSeq Databank

April 25, 2022DNA Day: CGEn Celebrates 10,000 Human Genomes in the Canadian HostSeq Databank April 25, 2022 – CGEn, Canada’s national platform for genome sequencing and analysis, and its partners are marking World DNA Day by celebrating Canada’s landmark human genome sequencing initiative called HostSeq. Led by CGEn, the HostSeq databank will include the whole genomes (the full set of DNA) of 10,000 Canadians (“Hosts”) with the aim to help understand the genomic architecture of the host response to COVID-19. The HostSeq databank also includes linked standardized clinical information collected at multiple clinical sites across Canada over the past two years of the pandemic. “The need for a national genomics databank grew very quickly early on in the pandemic. As soon as we started to observe differences of disease manifestation and symptoms in people infected with SARS-CoV-2 virus, we realized that there was an urgent need to collect and analyze population-wide host genetic data,” explains Dr. Naveed Aziz, Chair of the HostSeq Implementation Committee and Chief Executive Officer, CGEn. “The Government of Canada’s prior investment in CGEn allowed us to deploy our capacity to sequence genetic information of Canadians who were experiencing vastly different health outcomes in response to infection by the virus.” The national HostSeq initiative, funded by the Federal government through Genome Canada’s Canadian COVID-19 Genomics Network (CanCOGeN), is accessible to Canadian and international researchers to help study the health outcomes of those affected by the virus and to identify the genetic contributors of disease severity. This first-of-its-kind Canadian genomics databank may help to better diagnose and treat those predisposed to severe illness, backed by their genomic data. Owing to a concerted effort led by CGEn and its team, 14 clinical and research studies across the country were brought together to contribute to the databank that includes 10,000 study participants who have consented to the use of their genomic and clinical data for future research. The HostSeq databank will not only help to answer current research questions related to the virus, but will also serve as a resource when responding to future infections and preparing for future pandemics. “We are thrilled to have a population-based whole genome sequencing effort in Canada,” says Dr. Lisa Strug, Director of the University of Toronto’s Data Sciences Institute and the Ontario regional Centre of the Canadian Statistical Sciences Institute; Senior Scientist, Genetics and Genome Biology, and Associate Director, The Centre for Applied Genomics, The Hospital for Sick Children (SickKids). “Many countries have whole genome sequencing cohorts that they have made available and have had an important impact in health research broadly. The HostSeq databank will provide the Canadian perspective, and reflect data from individuals living in Canada,” says Strug, who is part of the HostSeq Implementation Committee and Chair of the Genetic Epidemiology Committee. The HostSeq databank gives Canadian scientists access to a rich dataset to help analyze and identify genetic determinants of susceptibility, severity and outcomes of COVID-19. It will also enable researchers to investigate population-level risks for many other diseases, including the potential to deliver new biomarkers that support prediction of risk, and novel therapeutic strategies. This DNA Day, there are countless scientific advancements to celebrate, and Canadians can count the HostSeq databank as a major step in how important population-level data can be collected and shared to help advance research and health care in Canada. “The delivery of the HostSeq project would not have been possible without the effort and commitment of its Implementation Committee, whose tireless efforts since the beginning of the project has allowed CGEn to play a key role in Canada’s response to the COVID-19 pandemic. The HostSeq project has proven that large-scale genomics is a present reality in Canada. The time is now for all partners and stakeholders to come together and build on the years of investment and effort towards a Canadian ecosystem where research is enabled by large datasets,” says Aziz. Linked Resources HostSeq: A Canadian Whole Genome Sequencing and Clinical Data Resource by Dr. Lisa Strug et. al. Read about the importance of Big Data in enabling data-driven Canadian research and discovery in Dr. Naveed Aziz’s latest blog post. To apply for HostSeq data access, please visit the CGEn website. About CGEnCGEn is a federally funded national platform for genome sequencing and analysis. Established in 2014, CGEn employs over 200 staff, and is funded primarily by the Canada Foundation for Innovation (CFI) through its Major Science Initiatives Fund (MSI), 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. [...] Read more...

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