Genetic sequencing shows promise for matching people with rare cancers to the right treatments, according to a new trial. Credit: The Walter and Eliza Hall Institute of Medical Research.

A clinical trial led by Walter and Eliza Hall Institute of Medical Research in Australia has demonstrated that genomic profiling could help match rare cancer patients with appropriate treatments.

Conducted at four sites across Australia, the patient-driven NOMINATOR trial assessed if genomic sequencing of rare cancers can enable better diagnosis and treatment.

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The trial investigators sequenced a panel of genomic markers in cancers to identify molecular features or mutations that can be targeted with treatments currently available for other cancer types with similar characteristics.

The pilot study included 36 patients. The study showed that genomic profiling yielded meaningful information in more than 50% of the participants, which influenced diagnosis and treatment.

NOMINATOR has been designed as a two-year study and is set to enrol 100 rare cancer patients with few standard treatment options.

“Genomic profiling provided meaningful information that influenced diagnosis and treatment in around half of the participants.”

Walter and Eliza Hall Institute researcher Clare Scott said: “Australians in this trial came to us after they had exhausted all their options. Using genomic profiling we were able to uncover new information that gave many patients new treatment options – and ultimately, new hope.

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“Genomic profiling provided meaningful information that influenced diagnosis and treatment in around half of the participants. 20% of those tested got a new treatment plan as a result and 6% of participants were given a new diagnosis.”

A cancer type is considered to be rare if fewer than six out of 100,000 people are affected per year.

In Australia, rare cancers constitute more than 20% of cancer diagnoses and are said to be collectively responsible for more cancer deaths than any single cancer type.

The researchers believe that this type of cancer requires better treatment options, and these early trial results could be a step forward to meet the needs.

Clinical Oncology Society of Australia president Phyllis Butow said: “Around 52,000 Australians are diagnosed with rare or less common cancers each year. Those directly affected by the disease helped call for and fund this research, so it’s great to see these initial promising results being presented to cancer experts from across the country.”