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Study finds advanced genetic testing opens new treatment options for cancer patients
By London Health Sciences Centre Research Institute
Expanded DNA testing can uncover genetic changes missed by standard testing, helping match more personalized therapies, trials
By London Health Sciences Centre Research Institute
A study led by researchers at Western University's Schulich School of Medicine & Dentistry and London Health Sciences Centre Research Institute (LHSCRI) shows that expanded genetic testing can help match cancer patients to more personalized treatment options.
Nearly one in three patients were found to be eligible for therapies not typically used for their specific type of cancer, based on the unique DNA of their tumour.
When someone is diagnosed with cancer, physicians run tests to learn more about the tumour. Currently, standard-of-care testing looks at a small number of genes linked closely to the type of cancer a patient has.
The prospective study, called Precision Oncology at Western University (POWER) and published recently in The Journal of Molecular Diagnostics, looked at whether next generation sequencing, which test for genes linked to numerous types of cancer, could help improve care.
The study examined 554 patients with a wide range of cancers, including gastrointestinal, lung, head and neck, breast, gynecologic, genitourinary, brain and nervous system, sarcoma, skin, and cancers of unknown origin.
This kind of evidence helps us make more informed decisions, so patients are not asked to endure treatments that are unlikely to help and instead are guided toward options with real potential.
Associate Professor and Division Head, Medical Oncology
Patients treated at London Health Sciences Centre’s (LHSC) Verspeeten Family Cancer Centre underwent advanced DNA testing that analyzes hundreds of cancer-related genes at the same time. The approach uncovered genetic changes that standard testing often misses, enabling access to therapies and clinical trials that might otherwise be unavailable for patients with limited treatment options.
“This study is one of the first to show, in real-world settings, that broader testing can find important changes in a tumour’s DNA and help identify alternative treatment options,” said Bekim Sadikovic, PhD, professor in pathology and laboratory medicine, and co-principal investigator on the study. “In almost one in three patients we tested, we found changes in their DNA that would make them eligible for different therapies that may be more effective than the standard of care.”
Many patients with advanced cancer eventually run out of standard treatment options. The results of this study give physicians evidence to support access to off‑label and compassionate‑use treatments, helping connect patients to therapies most likely to benefit them based on advanced genetic testing.
“Accessing off‑label drugs, which are treatments approved for one use but not another, is often challenging. However, when there is strong evidence that a specific therapy is likely to work for an individual patient, it can help open the door to access and has the potential to transform cancer care,” said Sadikovic, who is a scientist at LHSCRI and head of the Verspeeten Clinical Genome Centre.
The research found that 79 per cent of patients had a clinically relevant genetic variant, meaning researchers found a mutation that would respond to a specific therapy. Twenty-eight per cent of participants in the study became eligible for new treatment options, including clinical trials, off-label therapies and compassionate access programs that were previously unavailable to them.
“I meet with patients every day whose only remaining options are compassionate access to a specific drug or enrollment in a clinical trial,” said Dr. Stephen Welch, associate professor and division head of medical oncology. “This kind of evidence helps us make more informed decisions, so patients are not asked to endure treatments that are unlikely to help and instead are guided toward options with real potential.”
The research team also found that expanded genetic testing could have broader benefits for Ontario's health-care system.
- For 14.5 per cent of patients, testing gave access to treatment options deemed safer by oncologists, potentially reducing treatment-related morbidity.
- For 12.5 per cent of patients, genomic testing helped identify effective treatments earlier, reducing the need for later use of more costly publicly funded cancer drugs.
- For 17.3 per cent of patients, the order of treatments was adjusted, helping ensure they received the most appropriate therapy at the most effective time.
The research team is continuing this prospective study to better understand the impact of expanded genetic testing on patient outcomes and the broader health-care system.
“Our team is building real-life evidence that this genomic testing is making a difference in the lives of patients with cancer and has a true positive impact on our health-care system. It’s the future of precision medicine and the future of cancer care that we are really excited about,” said Welch, a scientist at LHSCRI and medical oncologist at LHSC.
The study was conducted through the Verspeeten Clinical Genome Centre and supported by a donation to London Health Sciences Foundation by the late Archie and Irene Verspeeten. Thanks to this transformational gift in 2020, the Verspeeten Clinical Genome Centre was established as the first of its kind in Canada, enabling state-of-the-art genetic diagnostics, personalized treatment options, better care and improved patient outcomes.