Genomics in Canada
GENOMICS: What is genomics? Simply stated, genomics is the branch of science that studies the genome – the genetic material of a given individual encoded in its DNA. In human beings, this genetic material is carried in our chromosomes, which are located in each one of our cells.
The publication of the human genome sequence (the Human Genome Project)in 2003, constituted a major scientific turning point in the development of genomics. Now, with the information provided by thislarge multinational project, we are able to better understand how our genetic makeup influences our health. More than 10 other human genomes have been sequenced and published since then and many more are now being sequenced,generating great amounts of data that are already having a strong impact on healthcare and medical practice.
On drug development, advances in genomic technologies and its applications are revolutionising and impacting the entire drug discovery process. The biopharmaceutical industry is adopting genomic strategies for target discovery, efficacy and safety profiling, as well as biomarker discovery and validation. As key contributors in the development of personalised medicines, the pharmaceutical companies and other life-scienceplayers are becoming increasingly interested in developing biomarkers and companion diagnostics to help prescribe the right medication to the right patient at the right time and at the right dose.
New imperative tool
The development of genetic tests is a new imperative tool to improve efficacy and safety profiles even more when one considers the enormous costs associated with drug discovery and the mounting costs of treating adverse drug events. There are currently five companion diagnostic tests approved by the Food & Drug Administration that arerequired before using some medications (e.g. CCR5-Selzentry for patients withHIV, EGFR-Erbitux for patients with head and neck cancer and for patients withcolon cancer, HER2/neu-Herceptin for patients with breast cancer). Another 15 tests are now recommended by the FDA. The developmentof companion diagnostics is evolving rapidly and will be an essential elementto our healthcare system to improve drug response and reduce costs.
Genetic biomarkers are used to stratify theindividuals in a given population who will respond, or not, to some drugtreatments. The development of specific genomic biomarkers already helps the development of targeted drugs with better efficacy and tolerability.
Large and well-characterised patient cohortsare imperative to providing clinical validation of biomarkers. Accordingly,medical research needs access to genomic data in large sets of patients inorder to unravel the genetic causes of common and rare diseases. As such,several countries, including Canada (CARTaGENE), have launched large population studies that are well coordinated with international cohorts, such as thePublic Population Project in Genomics (P3G).
Provides a solid foundation
Many believe Canada has opportunities to develop unique approaches to personalised medicine, given its universal healthcare coverage, international leadership in human genetic research and access to provincial health databases for evaluation of safety and effectiveness of therapeutic interventions. Génome Québec, a non-for-profit organisation funded 10 years ago, has as its mission to reinforce the Québec innovation system by funding large research initiatives in genomics and by placing genomics at the heart of socioeconomic development in Québec. About 70%of its investments have been dedicated to projects in human health and, through those investments, Génome Québec has been supporting research directly associated to personalised medicine, such as development of companion diagnostics, pharmacogenomic studies, patient cohorts, biomarkers development based on genomics, etc.
Personalised medicine may be described as giving the right treatment, to the right person, at the right time. This new healthcare paradigm has been aptly named P4TM medicine by Leroy Hood (Institutefor Systems Biology) in reference to its four key attributes: it isPersonalised, taking into account a person’s genetic or protein profile; it isPreventative, anticipating health problems and focusing on wellness, notdisease; it is Predictive, directing appropriate treatment, and avoiding drugreactions; and it is Participatory, empowering patients to take more responsibility for their health and care.
According to Dr. Tom Hudson, President of theOntario Cancer Research Institute recently: “There clearly is a benefit to research in personalised medicine: prevention and screening strategies targeting high-risk individuals, avoidance of serious adverse outcomes, and better matching of therapies to disease and individual profiles”. 1
As such, genomics is providing a solid foundation for the development of tomorrow’s biotechnological tools in Canada and around the world. The stakes are high, since genomics is already unlocking the secrets to some of the major diseases of our times: cardiovascular diseases, diabetes, cancer and diseases of the central nervous system, like Alzheimer’s, to name just a few.
Note1 Personalized medicine: A transformative approach is needed. Canadian Medical Association Journal, February 18,2009