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Agreement reached on how to interpret inherited cancer genes in Australia

Interpretation of genetic test results will be easier and more consistent in Australia due to a new study that has reached consensus on genes that are clinically important for hereditary cancer.

The study, published in the Journal of Medical Genetics, was led by researchers and representatives from QIMR Berghofer Medical Research Institute, Australian Genomics and Australian Family Cancer Clinics.

The leader of the project and head of QIMR Berghofer’s Molecular Cancer Epidemiology group, Professor Amanda Spurdle, said consensus opinion from health professionals would promote consistent practices in the ordering and interpreting of genetic tests across Australian Family Cancer Clinics.

“Genetic testing has become more widespread as science uncovers more evidence about the links between genes and certain diseases, including many different cancer types,” Professor Spurdle said.

“Unfortunately, some genes are included in tests without strong evidence for their role in cancer risk. It is important that genes are only tested if the results arising may be relevant to the management of patients and their families, so that people aren’t subjected to unnecessary anxiety when receiving reports.”

The study sought and collated input from representatives of Australian Family Cancer Clinics about the clinical usefulness of 157 genes.

Agreement was reached on the relevance of testing for 119 of these genes, depending on the cancer type/s seen in the patient and their relatives.

Professor Spurdle said reaching consensus and national consistency was a complex process, particularly in a country such as Australia where the criteria for genetic testing are set at a Family Cancer Clinic or state and territory level.

“This agreement between clinics should allow relatives from families who span two or more states, territories or Family Cancer Clinics to receive consistent advice,” she said.

“Importantly, it has also set up a process to allow for regular review of genes involved in hereditary cancers so health professionals across the country are always working with the most up-to-date evidence when considering a genetic diagnosis.”

The research was supported by Australian Genomics Health Alliance (NHMRC grant 1113531).