Many people are familiar with genomics as a means of mapping and tracing relatives and ancestral origins and to identify genetic risk factors (WHO, 2022). However, genomics can also be widely applied to track infectious and rare diseases.
However, as a result of the recent pandemic, people have also become increasingly exposed to the concept of genomic surveillance. Genomic surveillance is the process of constantly monitoring pathogens and analyzing their genetic similarities and differences (WHO, 2022). Through genomic surveillance, researchers and public health officials are able to monitor the evolution of infection, call attention to the spread of pathogens, develop interventions and recommendations for the public, and identify means of counteracting the spread of disease, such as vaccines (WHO, 2022).
The ability to track the spread of the COVID-19 virus, to track mutations, and determine the rate of transmission as well as possible diagnostic and prevention strategies is noted to have saved endless lives. By being able to genomically assess the COVID-19 genome, researchers were able to identify the method of transmission as well as develop life-saving vaccines (Randall et al., 2022). In fact, it is estimated that over 12.7 billion doses of the COVID-19 vaccine were administered across 184 countries (Randall et al., 2022).
However, the recent COVID-19 pandemic has also unveiled a lot about the ability of different countries to prepare for, and act in response to, deadly viruses. Research has identified that only a few countries were adequately prepared to implement genomic surveillance in response to the COVID-19 pandemic (Morgan et al., 2021). Many countries, including Canada, simply did not have the equipment, tools, or experts in order to use this powerful tool (Morgan et al., 2021). Prior to the pandemic, Canada had begun to invest in research and development into pathogen genomics (Nadon et al., 2022). However, prior to the pandemic, Canada only implemented genomic surveillance for bacterial food borne diseases (Nadon et al., 2022). However, with the onset of the COVID-19 pandemic, Genome Canada launched a Canadian COVID Genomics Network (Genome Canada, 2021). This network was developed to coordinate a pan-Canadian network for the sequencing of SARS-CoV-2 genomes (Genome Canada, 2021).
During the pandemic, Canada invested large amounts of funding to build the landscape of genomics by providing increased funding to universities, research hospitals, and the Canadian Institutes of Health Research (Nadon et al., 2022). However, a lot of this funding was also provided privately to industry (Nadon et al., 2022). Further, a lot of this investment will not benefit the Canadian population until the next pandemic or epidemic occurs (Nadon et al., 2022).
As many reading this blog already know, genome sequencing is the most comprehensive test for diagnosing rare disease, providing many with rare diseases the opportunity to finally be able to understand their symptoms and access any treatment options that may be available. However, genome sequencing is not comprehensively available across the Canadian landscape. As such, Canadians may be left to wonder how this investment in genome surveillance may affect their access to genome sequencing. Some are worried that this may limit access to genome sequencing resources for patients with rare diseases, while others are urging that this investment in genome surveillance may improve the knowledge and experience of Canadian genome sequencing institutions. Other experts in the rare disease community are wondering what impact this may have on genomic data sharing.
One of the Canadian case studies of special interest to the Social Pharmaceutical Innovation (SPIN) consortium is the Genomics4RD, an integrated platform to share Canadian genomic data with the rare disease community to enhance diagnosis, rare disease identification, and gene discovery. As such, our research team is eager to determine if the investment in genomic surveillance will have any impact on the rare disease community.
Only time will tell the impact that this may have, nevertheless, the public and private investment in genome sequencing and surveillance will likely have an impact on patients with rare diseases in the near future.
Genome Canada(2021, December 30). CanCOGeN - GenomeCanada. Genome Canada. Retrieved September 30, 2022, from https://genomecanada.ca/challenge-areas/cancogen/
Morgan, O. W., Aguilera, X., Ammon, A., Amuasi, J., Fall, I. S., Frieden, I. T., Heymann, D., Schuchat, A., Wiler, L. H., & Dowell, S. F. (2021). Disease surveillance for the COVID-19 era: Time for bold changes. The Lancet, 397(10292), 2317-2319.
Nadon, C., Croxen, M., Knox, N., Tanner, J., Zetner, A., Yoshida, C., & Van Domselaar, G. (2022). Public health genomics capacity assessment: readiness for large-scale pathogen genomic surveillance in Canada’s public health laboratories. BMC Public Health, 22(1817), 1-13.
Randall, T., Sam, C., Murray, P., Cannon, C., & Tartar, A. (2022, September 30). More Than 12.7 Billion Shots Given: Covid-19 Tracker. Bloomberg.com. Retrieved September 30, 2022, from https://www.bloomberg.com/graphics/covid-vaccine-tracker-global-distribution/
WHO (2022, April 1). WHO global genomic surveillance strategy for pathogens with pandemic and epidemic potential 2022-2032. World Health Organization (WHO). Retrieved September 30, 2022, from https://www.who.int/initiatives/genomic-surveillance-strategy
Photo credit: The Blowup (2017). Greyscale Photo of Audiomixer [Image]. https://unsplash.com/photos/VBjE2KKj0FU
Written by: Shir Grunebaum MA