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Expanding access to genetic testing for children with cancer

What if cancer treatment could be tailored to each child and their cancer using insights from their own DNA? Genetic tests such as germline multi-gene panel testing are opening these new possibilities in precision oncology by analyzing inherited DNA to identify genetic changes linked to cancer risk. 

For children with cancer, this testing can reveal hereditary traits that could help doctors better understand their disease or their risk for future cancers and guide treatment decisions. It can also identify cancer risks for other family members, helping families better understand their own risk and potentially detect cancer earlier. 

However, this testing is only offered to a small percentage of children within our publicly funded health-care system because there’s limited evidence about the benefits, and the costs, of expanding access.  

With $511,000 in support from a Terry Fox New Investigator Award, Dr. Samantha Pollard, assistant professor at Simon Fraser University and investigator at the BC Children's Hospital Research Institute, is working to change that by generating the evidence needed to bring multi-gene testing into standard care for children with cancer.  

“By the end of this project, I aim to deliver clear, practical evidence that shows how genetic testing can be offered to children with cancer in a way that truly helps patients, families and the health system,” says Dr. Pollard.  

Over the next three years, her team will bring together patients and families, clinicians, health economists, people involved in clinical trials and health-system decision makers to explore how this type of testing can be delivered in ways that are effective, equitable and sustainable. 

First, Dr. Pollard and her team will work with patients and families who have experienced germline testing to learn about the challenges they face and identify practical ways to improve how testing and results are delivered.  

“Patient engagement is critical at every stage of cancer research, including testing. Through their lived experiences, patients provide valuable insights that strengthen research design and implementation. Their perspectives help ensure that studies address real-world needs and priorities. Dr. Pollard has consistently been an industry leader in championing meaningful patient engagement and integrating patient voices into the research process,” says Randy Thompson, patient partner and member of the Marathon of Hope Cancer Centres Network (MOHCCN) Patient Working Group. 

“The scientific questions we ask have to be guided by patient and family perspectives because those are the people who will be impacted by these interventions and policy changes,” adds Dr. Pollard. “Patients are often navigating incredibly complex information at a vulnerable time. Understanding their preferences, their values and the trust they place in their care teams is essential to designing approaches that truly work.” 

Her team will also work with healthcare providers and health system decision makers to better understand the barriers that currently exist, and the evidence needed to support broader access.  

Another key component of the project will focus on strengthening existing methods of data collection and access. The team will identify what data is needed and develop faster, more comprehensive ways to collect it to better evaluate the clinical benefits, costs and long-term impacts of expanding access to germline testing.  

“Working in pediatric precision oncology means striving not only to improve outcomes for children with cancer, but also to support families, reduce uncertainty and ensure that advances in genomic medicine are implemented equitably and responsibly across Canadian health systems,” says. Dr. Pollard. “This project bridges discovery and real-world impact.” 

She hopes the project will help catalyze a broader, patient-driven effort across Canada and lay the groundwork for future studies in pediatric precision oncology.  

“Involving patients in the foundational stages of projects like this should be the standard. Dr. Pollard continues to centre the patient’s experience as a person in her research, and the outcomes are all the better for it,” says Summer Konechny, patient partner and member of the MOHCCN Patient Working Group. 

 “Ultimately, this will guide decisions in British Columbia and provide a clear, practical model that can be used across Canada to improve equity in genetic testing and ensure discoveries in genomic medicine translate into real benefits for children with cancer and their families,” says Dr. Pollard.