Major genes-focused testing for Aussies points to better treatment of rare cancers

Medical Research facility's researcher Professor Clare Scott

Many Australians with rare cancers stand to benefit from genomic profiling, with the focus on their individual genes pointing to major ways the diseases are diagnosed and treated, according to a latest research.

The study involved tests to identify molecular features of the cancers or genetic mutations that could be targeted with existing treatments used in other cancer types with the same characteristics, the Clinical Oncology Society of Australia healthcare professionals group said in a statement on Wednesday.

The approach, touted as one of the first of its kind, showed that genomic profiling provided important information that influenced diagnosis and treatment in about half of patients with rare cancers, it said.

"The treatment options for Australians with rare cancers are currently extremely limited and this ultimately leads to poor survival rates. Research has also typically been restricted because of the challenges of finding enough of each type of cancer patient to design appropriate clinical trials," said the Walter and Eliza Hall Institute of Medical Research facility's researcher Professor Clare Scott, who presented the study.

About 52,000 Australians are diagnosed with rare or less common cancers each year, according to the researchers.

Australians in the study had exhausted their other options, said Scott. "The cancers they had are extremely rare - the chances of being diagnosed with these cancer types are often around one in a million."

In one case, the researchers were able to identify that a rare heart tumor actually had a genetic profile most closely resembling a melanoma skin condition, she said.

The information allowed them to access the latest treatments for melanoma patients to hopefully provide better outcomes. The latest findings are set to lay the groundwork for other national initiatives looking into genomic profiling across a range of cancer types.

"Using genomic profiling we were able to uncover new information that gave many patients new treatment options - and ultimately, new hope," said Scott.