Advanced genetic testing opens new treatment options for nearly one in three cancer patients, study finds

A new study from London Health Sciences Centre Research Institute (LHSCRI) shows that expanded genetic testing can help match cancer patients with more personalized treatment options, with nearly one in three found eligible for therapies not typically used for their specific type of cancer based on the unique DNA of their tumor.

When someone is diagnosed with cancer, physicians run tests to learn more about the tumor. Currently, standard-of-care testing looks at a small number of genes closely linked to the type of cancer a patient has. This prospective study, published in The Journal of Molecular Diagnostics, looked at whether next-generation sequencing, which includes testing for genes linked with 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. 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. This approach uncovered genetic changes that standard testing often misses, enabling access to therapies and clinical trials that would otherwise be unavailable and offering new hope for patients with limited treatment choices.

“This study is one of the first to show, in real-world settings, that broader testing can find important changes in a tumor’s DNA and help identify alternative treatment options,” says Dr. Bekim Sadikovic, scientist at LHSCRI and head of the Verspeeten Clinical Genome Centre. “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,” says Sadikovic, senior author and co-principal investigator of the study.

The research found that 79% of patients had a clinically relevant genetic variant, meaning researchers found a mutation that would respond to a specific therapy. Twenty-eight percent 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,” says Dr. Stephen Welch, scientist at LHSCRI and medical oncologist at LHSC. “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 the results could have broader benefits for the Ontario health care system.

• Fourteen and a half percent of patients gained access to treatment options deemed safer by oncologists, potentially reducing treatment-related morbidity.
• For 12.5% 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% of patients, the order in which treatments were given was adjusted, helping ensure they received the most appropriate therapy at the most effective time.

The research team is continuing this prospective study and collecting more information about the impact of this expanded genetic testing on patient outcomes and the larger health care system.

“Our team is building real-world evidence that this genomic testing is making a difference in the lives of patients with cancer and has a 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,” says Welch.

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Gaby Clark

MA in English, copy editor since 2021 with experience in higher education and health content. Dedicated to trustworthy science news.

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Andrew Zinin

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