Back
Science

Australian Research and Experts Identify Need for National Framework for Prostate Cancer Genetic Testing

Generated on: Last updated: 3 sources
View source

National Consensus Calls for Unified Genetic Testing Framework for Prostate Cancer

A national consensus study has identified a need for a unified national framework to guide genetic testing for prostate cancer in Australia. The research, described as the first of its kind in the country, found significant uncertainty among clinicians regarding testing pathways and eligibility, alongside strong consumer support for broader access.

In response to the findings, the Prostate Cancer Foundation of Australia has launched a nationwide survey on the topic, and a proposal to expand Medicare funding has been submitted to a government advisory committee.

Research Findings and Current Gaps

A national consensus paper states that Australia lacks comprehensive national guidelines for prostate cancer genetic testing. The study found that current clinical practice relies largely on international guidelines and eviQ recommendations.

Key findings from the research include:

  • Significant uncertainty exists among clinicians about which patients to refer for genetic testing and how to do so.
  • Major gaps in access to the technology and genetic counselling were identified.
  • There is strong consumer support for broader access to testing.
  • The research indicates that earlier testing in metastatic or high-risk disease can improve clinical outcomes and enable cascade testing for families, which drives the greatest health benefit by enabling early detection and prevention for relatives.

Background and Genetic Context

Prostate cancer is the most commonly diagnosed cancer and the second leading cause of cancer death in Australian men, with nearly 29,000 cases diagnosed each year.

According to the research, inherited genetic mutations cause between 5% and 15% of prostate cancers. Approximately 10% to 12% of men with metastatic prostate cancer carry BRCA1/2 mutations.

An analysis of one patient cohort found roughly 8% had BRCA mutations and about 4% had Lynch syndrome.

Currently, publicly funded Medicare-subsidised testing in Australia remains largely limited to men with metastatic castration-resistant prostate cancer who are candidates for targeted treatment. An analysis of Medicare data showed few men with metastatic prostate cancer are taking up BRCA1/2 testing, despite the test determining eligibility for these therapies.

Expert Statements and Recommendations

Professor Haitham Tuffaha, the paper's lead investigator from the University of Queensland, stated that genetic testing is becoming central to precision prostate cancer care and that clinicians need clearer national guidance and better systems to deliver it effectively.

Anne Savage, chief executive of the Prostate Cancer Foundation of Australia (PCFA), said a unified national framework covering eligibility, gene types, consent, and cascade testing must be a priority to transform survivorship outcomes.

Professor David Thomas, chief science officer of Omico, noted that precision medicine is increasingly critical for prostate cancer patients beyond BRCA mutations, citing findings of other genetic factors like Lynch syndrome in patient cohorts.

The consensus paper includes several recommendations to improve access.

  • Develop national guidelines covering eligibility by stage and risk, minimum gene sets, and testing pathways.
  • Expand Medicare Benefits Schedule (MBS) funding to include high-risk localized prostate cancer patients and review universal metastatic testing.
  • Strengthen workforce and services by scaling mainstream testing and telehealth genetic counselling.
  • Provide education for clinicians on eligibility and interpreting results.
  • Establish national datasets to audit testing uptake and equity of access.

Institutional Responses and Case Example

In March 2024, Cancer Australia assembled a national prostate cancer expert advisory group whose remit includes addressing inequity of access and early detection. Cancer Australia and Genomics Australia have also submitted a proposal to the Medical Services Advisory Committee to expand Medicare funding for prostate cancer genetic testing.

The PCFA has launched a nationwide survey of health professionals and consumers to understand awareness and use of genetic testing, with results intended to inform future policy recommendations.

A case example cited in the research involves Ross Lamb, who was diagnosed with aggressive prostate cancer in December 2021. After learning his aunt carried the BRCA2 mutation, he was tested and found to be positive. His two daughters subsequently tested negative for the mutation.