A new project involving the BC Centre for Disease Control (BCCDC), Oxford University and Public Health England (PHE) is building data-sharing capacity between the three groups to accelerate the use of genomics as a tool for the diagnosis, treatment and tracking of tuberculosis (TB). Funded in part by Genome BC, this pioneering work will support PHE and BCCDC’s efforts to validate the use of a genomic platform in a clinical setting through developing user-friendly reports to assist doctors in faster and more effective diagnosis and treatment.
Through a previous collaboration, the researchers demonstrated that using genomics to diagnose and characterize TB infections can reduce the time to diagnose and fully characterize an infection from an average of 31 days to just five days. Genomics also provides important information on the drug resistance profile of the tuberculosis strain, which helps doctors to identify the best treatment and avoid using antibiotics that will not be effective. The use of genomics in the clinic means patients will have access to the most effective treatment several weeks earlier.
Led by Dr. Jennifer Gardy at BCCDC and Dr. Derrick Crook, University of Oxford and PHE, this research project is exploring how to communicate the complex data from a genomics-based test in a simple and effective laboratory report. This will allow clinicians, many of whom have not worked with genomic data before, to quickly and easily find the information and get the interpretation they need to ensure a direct benefit for patients.
“We have evidence showing genomics is faster and often more accurate than current techniques for diagnosing and characterizing bacterial infections,” says Jennifer Gardy, Senior Scientist, BCCDC Communicable Disease Prevention and Control Services and Assistant Professor, University of British Columbia. “If we want genomics to be routinely used in public health microbiology, we need to make genomics tests results accessible and interpretable by primary care providers.”
Valued at $168,000, the SMAC: Sharing Mycobacterial Analytic Capacity project is using techniques from the field of information visualization to design a better laboratory reporting form. Through a series of online surveys and iterative designs, the researchers are developing a simple, two-page report that describes a patient’s diagnosis, the antibiotics that are predicted to work to treat the infection, and whether or not the patient is part of an outbreak. As part of SMAC, the UK and Canadian teams are also sharing resources and expertise in TB genomics and bioinformatics in order to accelerate the clinical validation and implementation of genomics-based TB diagnostics, first in the UK, and ultimately in BC.
“BC is leading Canada on the international stage for sophisticated use of genomics to generate practical insights into infectious disease management,” says Dr. Rachael Ritchie, Director, International Partnerships. “The UK is leading the world with their clinical readiness and we’re happy to lend our expertise to help them in their final push. By breaking down barriers for the UK, we can expedite introducing something similar to BC over the next few years.”
This partnership is a product of the Memorandum of Understanding (MOU) signed by Genome British Columbia and Genomics England last year to improve diagnostic capability and outcomes for patients with cancer, rare diseases and infectious diseases. The SMAC project reflects the mutual desire to share and co-develop information and tools, and a mechanism for the international exchange of knowledge, data and materials in the field of genomics.
- Although one-third of the world’s population is infected with Mycobacterium tuberculosis, the disease garners relatively little attention, as it is predominantly a disease of developing nations and disadvantaged populations. In 2011, approximately 8.7 million new cases of tuberculosis were identified and 1.4 million tuberculosis-related deaths occurred worldwide.
- Although tuberculosis in Canada has steadily decreased over the last 30 years, it continues to disproportionately affect some populations in Canada.
- Antimicrobial-resistant strains are evolving and becoming increasingly difficult to treat. Significant advances against tuberculosis (TB) have been made in the past century, but without new tools for TB diagnosis and management, it will be impossible to further reduce the burden of disease worldwide.
About Genome British Columbia:
Genome British Columbia leads genomics innovation on Canada’s West Coast and facilitates the integration of genomics into society. A recognized catalyst for government and industry, Genome BC invests in research, entrepreneurship and commercialization in life sciences to address challenges in key sectors such as health, forestry, fisheries, aquaculture, agri-food, energy, mining and environment. Genome BC partners with many national and international public and private funding organizations to drive BC’s bioeconomy. In addition to research, entrepreneurship and commercialization programs, Genome BC is committed to fostering an understanding and appreciation of the life sciences among teachers, students and the general public. www.genomebc.ca
About Genomics England:
Genomics England is a company owned by the Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project will sequence 100,000 whole genomes from NHS patients and their families by 2017.
Genomics England has four main aims:
- to bring benefit to patients
- to create an ethical and transparent programme based on consent
- to enable new scientific discovery and medical insights
- to kickstart the development of a UK genomics industry
The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers.