As countries around the world accelerate their genome-based testing readiness, Canada's health systems can't afford to fall behind

Patients are calling on provincial governments to act now so they can benefit from where science and innovation is today – and where it's headed

TORONTO, Sept. 13, 2023 /CNW/ - According to a Chief Scientist at the World Health Organization (WHO), genomic technologies are driving some of the most ground-breaking research happening today.¹ The State of Readiness in Canada Progress Report, published in Current Oncology by lead investigator and author Don Husereau, Adjunct Professor, School of Epidemiology and Public Health, University of Ottawa, brings attention to the untapped positive human impact and added value to the health system that can be realized through the routine use of genome-based testing.

Reinforcing the need for access to genomic testing, the report confirms that the five large provinces evaluated (British Columbia, Alberta, Ontario, Quebec and Nova Scotia) are falling behind in their infrastructure and operational readiness to adopt genome-based testing. Alberta received a B+ grade for its readiness, the highest grade among jurisdictions evaluated. Alberta is followed by Quebec, British Columbia, Nova Scotia, and Ontario, ranked in order of their readiness grade. 

The report also outlines tangible actions policy makers across Canada can take to ensure patients, care providers and the health system can benefit from where science and innovation is today and where it is headed in the future. It calls for equitable access to genome-based testing to ensure no matter where a patient lives or receives treatment, they can access this rapidly evolving innovation leading to informed treatments and, as a result, better health outcomes.

Cancer care and many other disease areas can benefit tremendously from genomic testing and remain a top public health priority in Canada, with an estimated 233,900 new cancer cases and 85,100 cancer deaths in 2022.² Effective healthcare for patients, including patients living with cancer, takes knowing about the nature of underlying conditions that lead to poor health. That's where genomic testing comes in. It can help clinicians learn more about the underlying conditions, predict outcomes, and more accurately determine the most appropriate treatment or therapy for a patient. Ultimately this can result in better quality of care, millions of dollars in health system savings, and improved patient experience and outcomes, while also improving the care provider experience and population health. 

"I was not provided access to genomic testing when I was first diagnosed, and I wish I had been because of how profoundly effective it could have been for me," said a patient advocate who received an initial diagnosis of Stage 3A lung cancer. "I feel like I'm living on borrowed time, and it has been tough on my family, knowing things could have been different. I had a chance at better outcomes and the likelihood that metastasis would have been greatly reduced, if I had access to Epidermal Growth Factor Receptor testing early on." 

"After my Stage IV metastatic colon cancer continued to progress and spread despite multiple surgeries and several lines of standard of care chemotherapy, next generation sequencing and a second opinion from a precision medicine specialist led to an immunotherapy treatment that saved my life," said Gordon Levine, a patient advocate diagnosed with Stage 4 colon cancer at the age of 48. "Without genomic testing and a personalized approach from my oncologist, I would not have survived."

"I was trained as a life scientist, and I thought I knew how to ask the right questions in terms of genomic testing when I was diagnosed with cancer. I didn't actually know enough to be able to navigate this at all. However, I was privileged to be in one of the networks of NGS testing that Dr. Sheffield has established in the GTA, ON," said a patient advocate based in Ontario who received a lung cancer diagnosis. "As such, I was able to access treatment in a timely manner. While recognizing my privilege, I acknowledge that not everyone has this access. The care I have received should be the standard level of care of everyone, it should be where we can take this for granted."

Researched over a two-year period, the report presents data about health infrastructures in Canada's largest regions to demonstrate where progress is being made and where more must be done. As a result, The State of Readiness in Canada Progress Report Card outlines the conditions necessary for readiness, how major Canadian provinces are meeting these conditions, and what more needs to be done in the coming years to ensure system readiness, sustainability, and resiliency that ultimately benefits patients.

"Access to timely and accurate genomic testing is the mainstay of modern-day cancer treatment and a key determinant of health outcomes for patients, yet Canada's health systems are struggling to keep pace with this rapidly evolving field," said Dr. Brandon Sheffield, Pathologist, Medical Director of Molecular Pathology and Physician Lead, Research at William Osler Health System. "By reviewing how decisions on funding are made and collaborating with stakeholders such as patients, industry, and medical experts, Ontario has the potential to be a world leader in genomic medicine."

"Patients living with cancer need faster access to better diagnostics, which requires faster access to new technologies. Nova Scotia has been successful with well-established access to reflex biomarker testing for many conditions, but there is more to be done to streamline and define the process for linked laboratory information systems and clearly established processes to secure funding for new biomarker tests as they emerge in concert with novel therapeutics," said Dr. Stephanie Snow, Professor, Division of Medical Oncology, Department of Medicine, Dalhousie University. "Province-wide education and training standards are needed to ensure consistency in the quality of testing services for all patients whether they live in the urban centre of Halifax or a more rural remote location of the province."

With the considerable health and economic impact of cancer in Canada, as well as other diseases that genome testing could impact, the findings of The State of Readiness Progress Report provide an overview of suggested steps for provinces to address the gap in care and the policy actions that are called for to address this. Some of these tangible policy actions include:

• Developing province wide education and training standards to ensure consistency in the quality of testing service.
• Establishing a single point of entry for onboarding new tests moving away from the processes that are fraught with red tape and numerous routes and programs for evaluating testing.
• Establishing a funding formula to invest in test development and frontline integration, moving away from the current patchwork approach of releasing funding on a case-by-case basis.
• Creating an engagement process and mechanisms to consult and liaise with patient organizations, patients, care providers and industry innovators.

To make their health systems more resilient, countries around the globe are accelerating their progress on genome-based testing. While Canada has made some progress toward routine use of genome-based testing, it is far from ready. The State of Readiness in Canada Progress Report Card lays out a province-by-province roadmap for policy makers and health system leaders to address the gaps in data, education, financing and more, to ensure readiness.

Canada can't fall behind. The time to act is now.

About the Access to Genomic Testing coalition:
Access to Genomic Testing is a coalition of patient advocacy organizations, care providers and innovative biotech and diagnostic companies that have come together to rally around the importance of raising Canadians awareness around unlocking the potential of genome-based testing in Canada. Aligned on a common mission, the group is committed to improving genomic-based testing infrastructure in health systems across Canada, so that more patients can have access to this potentially life-saving technology.

Visit https://accesstogenomictesting.ca/ to view the report and other related resources.

Quotes from patient organizations on the State of Readiness in Canada Progress Report:

"Health policy decision makers across Canada must ensure that patients have access to precision medicines. Genomic testing is the key to personalized medicine ensuring that patients can benefit from the most effective and targeted innovations to improve patient outcomes," said Barry D. Stein, Colorectal Cancer Canada. "We must work together to ensure equitable access to biomarker testing to ensure Canadian patients benefit from the latest and most effective advances."

"Although overall cancer rates are declining, the number of cases and deaths continues to climb, owing to population growth and the aging population. Canada cannot fall behind when it comes to genomic testing," said Shem Singh, Lung Cancer Canada. "We need to ensure we have the infrastructure in place within our health systems to be able to adopt genomic testing."

"Lung cancer is the leading cause of cancer-related death in Canada, leading to 1 in 4 of all cancer-related deaths. Newer genomic testing modalities that have been developed can provide the ability to identify many more patients, more quickly, who would benefit from targeted therapies," said Jess Rogers, Lung Health Foundation. "Canada needs to be ready to ensure patients living with lung cancer can benefit from this innovation."

"Provinces across Canada have different genomic testing availability, processes for considering what types of tests to fund and different performance and quality standards, which has created a patchwork and inequitable approach," said Cathy Ammendolea, Canadian Breast Cancer Network. "Canada needs to work towards equitable access to genomic testing for patients no matter which part of the country they live in."

"The pace of progress in Canada for genomic testing has been slow and patients don't have time to spare," said Jackie Manthorne, Canadian Cancer Survivor Network. "Making progress towards ensuring Canada is ready for genomic testing will affect the survival and quality of life of many Canadians."

Quick facts: 

Benefits of Genomic Testing
Genome-based tests evaluated for use in Canada and abroad over the last seven years have described the following benefits on patient health which have been accepted by health technology assessment (HTA) bodies:

• Reducing severe toxicities from drug therapy or the need for drug therapy.³
• Avoiding invasive procedures and reducing unnecessary surgeries.⁴
• Improving response to medication.⁵
• Reducing the need for additional diagnostic tests (including invasive biopsy).⁶
• Improving time to diagnosis.⁷
• Reducing the number of specialist referrals and follow-up visits.⁸
• Reducing medication burden.⁹

The State of Readiness Progress Report
Support for The State of Readiness Progress Report was provided to the lead researcher, Don Husereau, by innovative pharmaceutical companies Amgen, AstraZeneca, GSK, Janssen, Eli Lilly, Roche and diagnostic company ThermoFisher Scientific. For these life sciences companies, precision medicine and genome-based testing are also key research and development interest areas with the ability to create jobs, fuel innovation and to improve innovative therapeutics.

For more details about Canada's readiness for genome-based testing, review The State of Readiness in Canada Progress Report Card: accesstogenomictesting.ca

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¹ World Gealth Organization, 2022 Report: https://www.who.int/news/item/12-07-2022-who-s-science-council-launches-report-calling-for-equitable-expansion-of-genomics

² Brenner DR, Poirier A, Woods RR, Ellison LF, Billette JM, Demers AA, Zhang SX, Yao C, Finley C, Fitzgerald N, Saint-Jacques N, Shack L, Turner D, Holmes E; Canadian Cancer Statistics Advisory Committee. Projected estimates of cancer in Canada in 2022. CMAJ. 2022 May 2;194(17):E601-E607. doi: 10.1503/cmaj.212097. PMID: 35500919; PMCID: PMC9067380.

³ Ontario Health (Quality). DPYD Genotyping in Patients Who Have Planned Cancer Treatment With Fluoropyrimidines: A Health Technology Assessment. Ont Health Technol Assess Ser 2021;21:1–186.

Hannouf MB, Winquist E, Mahmud SM, et al. Cost-effectiveness of using a gene expression profiling test to aid in identifying the primary tumour in patients with cancer of unknown primary. Pharmacogenomics J 2017;17:286–300. doi:10.1038/tpj.2015.94

Ontario Health (Quality). Cell-Free Circulating Tumour DNA Blood Testing to Detect EGFR T790M Mutation in People With Advanced NonSmall Cell Lung Cancer: A Health Technology Assessment. Ont Health Technol Assess Ser 2020;20:1–176.

⁴ Ontario Health (Quality). Cell-Free Circulating Tumour DNA Blood Testing to Detect EGFR T790M Mutation in People With Advanced NonSmall Cell Lung Cancer: A Health Technology Assessment. Ont Health Technol Assess Ser 2020;20:1–176.

Perez MV, Kumarasamy NA, Owens DK, et al. Cost-Effectiveness of Genetic Testing in Family Members of Patients With Long-QT Syndrome. Circulation: Cardiovascular Quality and Outcomes 2011;4:76–84. doi:10.1161/CIRCOUTCOMES.110.957365 10. Ontario Health (Quality). Pigmented Lesion Ass.

⁵ Ontario Health (Quality). Multi-gene Pharmacogenomic Testing That Includes Decision-Support Tools to Guide Medication Selection for Major Depression: A Health Technology Assessment. Ont Health Technol Assess Ser 2021;21:1–214.

⁶ Health Quality Ontario. Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment. Ont Health Technol Assess Ser 2019;19:1–166.

⁷ Demos M, Guella I, DeGuzman C, et al. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy. Front Neurol 2019;10:434. doi:10.3389/fneur.2019.00434

⁸ Ontario Health (Quality). Pigmented Lesion Assay for Suspected Melanoma Lesions: A Health Technology Assessment. Ont Health Technol Assess Ser 2021;21:1–81.

⁹ Ontario Health (Quality). Multi-gene Pharmacogenomic Testing That Includes Decision-Support Tools to Guide Medication Selection for Major Depression: A Health Technology Assessment. Ont Health Technol Assess Ser 2021;21:1–214.

SOURCE Access to Genomic Testing

Jharna Bajaj, Hill+Knowlton Strategies, [email protected]