The promise of precision medicine

Precision medicine is an evolving field based on the principle that information derived from molecular diagnostic tests can help physicians determine the medical treatments and strategies that will achieve optimal clinical outcomes for their patients. Instead of applying one-size-fits-all solutions, precision medicine aims to customize prevention strategies and treatments based on each patient’s molecular profile. Implementing precision medicine allows enhanced disease management and ensures better health outcomes for patients, decreases the rate of adverse drug reactions and facilitates drug discovery.

Precision medicine necessitates the generation of an extraordinary amount of biological, largely digitized, data. While performing the laboratory tests is becoming increasingly inexpensive, storing, analyzing and converting raw data into meaningful information remains the main challenge. Additionally, the integration of biological information with clinical data and real-world evidence to reach comprehensive decisions on matching patients to personalized treatments is a computationally demanding task and entails sharing of data that is often siloed and inaccessible. To manage the unprecedented wealth and complexity of data, the field has successfully derived multiple layers of expertise from the disciplines of computer sciences, statistics and artificial intelligence. These have sculpted new research areas such as bioinformatics and health/biomedical informatics and shaped a new generation of health-oriented data scientists.

COVID-19: An unexpected turn of events

Precision medicine is very relevant to the challenges posed by the COVID-19 pandemic as it is placed at the intersection of disruptive laboratory technologies, biomedical big data and cutting-edge informatics and analytics approaches. Thus, it is paving the way towards the digitalization of our health care systems. Canada has already invested considerably in a variety of science projects in academia and industry that aim to bring the health care systems closer to the realization of the promise of precision medicine. The sudden arrival of the COVID-19 pandemic has demanded unconventional alleviating strategies, which triggered a rally of precision medicine experts around the biggest crisis of our lifetime. 

Among the first to react, Genome Canada (GC) took audacious steps to mobilize the Canadian research ecosystem towards that direction. As GC’s President and CEO, Dr. Rob Annan has recently pointed out, “Canada is a world-leader when it comes to health-related genomics research.” Capitalizing on CGEn, the establishment of CanCOGeN, a pan-Canadian scientific network that facilitates large-scale sequencing of viral and patient genetic material to accelerate drug and vaccine development, was only a matter of weeks. A shining example of adaptability of an established precision medicine workflow for a hallmark disease, such as cancer, to the fight against COVID-19 is the Canada’s Michael Smith Genome Sciences Centre at BC Cancer Research Institute, which is one of CanCOGeN’s nodes. Other successful precision medicine initiatives that are leveraged in the face of the pandemic include PRiME at the University of Toronto and the CoVBanQ COVID-19 biobank established by INSPQ (Institut National de Santé Publique du Québec). In the province of Alberta several precision medicine experts with domain-specific expertise are currently working to combat COVID-19, including a number of precision health initiatives at the University of Alberta and Calgary, the latter of which hosts the important project AB3C that repurposes precision health genomics pipelines developed for the elucidation of rare diseases to study the course of the COVID-19 infection among children. As great need pushes for creativity, The Metabolomics Innovation Centre (TMIC) in Edmonton launched a real-time tracking tool called COVIDmapper to help visualize the progression of the disease globally whereas DNAstack built a publicly available platform, COVID Cloud, to assist researchers with data analysis. Finally, COVID-19 has demonstrated that data sharing and trans-institutional collaborations are vital in current healthcare delivery. To that front, Genomics4RD’s previous efforts with international partners have already compiled an attractive governance model to set a solid basis for federated data access while still mitigating potential privacy or security risks.

The gains for precision medicine

In turn, the field of precision medicine will never be the same again, as the COVID-19 pandemic is dramatically transforming the priorities, objectives and collaborations of precision medicine experts and stakeholders. his presentation will expand on such future perspectives of a changing field. Our current COVID-19 experiences as a society build reinforced confidence in science and capitalize on previous investments in precision-medicine infrastructure and computational, human capital and social network resources. This is a win-win exchange as healthcare systems are likely to accelerate adoption of precision medicine to better address a range of health issues from cancer and cardiovascular disease to the COVID-19 crisis.