For many conditions, the link between genes and certain diseases is proven and widely accepted in clinical practice.

Think inherited breast cancer and an altered BRCA1 or BRCA2 gene. But reaching consensus and national consistency in how the results of gene tests are interpreted can be a complex process, particularly in a country such as Australia where practices can differ between states and territories.

That is why a recent study, the results of which are published in the Journal of Medical Genetics, is a significant breakthrough: it achieved national consistency in the interpretations of gene tests for hereditary cancer diagnosis. Moreover, it set up a process to allow for regular review of genes involved in hereditary cancer.

The study sought the opinions of representatives from Australian Family Cancer Clinics (FCCs) regarding the “clinical utility” of 157 genes initially collated for the national research project, Australian Genomics Hereditary Cancer Flagship.

“The consensus opinion documented by this study will promote consistent practices in the ordering and interpreting of genetic tests across the Australian FCC setting, and will allow relatives from families who span two or more states/territories or FCCs to receive consistent advice,” the paper says.

Implementing Gene Curation for Hereditary Cancer Susceptibility in Australia: Achieving Consensus on Genes with Clinical Utility is a joint study including Australian Genomics, QIMR Berghofer Medical Research Institute and Family Cancer Clinics from across Australia.