Australian women at risk of cancer missing out on genetic testing

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New data has revealed the negative impact on Australian women at high risk of cancer due to the lack of access to potentially life-saving genetic testing.

The analysis conducted by US-based Invitae has revealed that applying Australia's current testing eligibility criteria would make up to two in three Australians with breast cancer, who have high-risk hereditary gene variants, unable to access genetic testing.

Unfortunately, even those who do qualify for public testing often end up on a waitlist. In New South Wales, women with a referral can wait 12 months or longer.

Around 5 per cent of women with breast cancer and 15 per cent with ovarian cancer have an inherited mutation in a known high-risk cancer gene.

Pink Hope is a preventative health organisation that provides women and their families with tools to assess, manage and reduce their risk of breast and ovarian cancer.

CEO Sarah Powell said, "There's a very high threshold to qualify for a publicly-funded genetic test, so many family members are unable to find out if they are at increased risk. Even those who do qualify for a public test can often face a very long wait.

"Our organisation’s mission is to empower people to have a genetic test at the earliest possible point in their pathway, where the potential to avoid a cancer diagnosis is in reach.”

Currently, there is no Australia-wide standard of care or pathway for genetic testing. Pink Hope says that at least expanding testing criteria, as a first step, would help ensure the early identification of those at risk. This would improve early intervention and management.

Invitae's chief medical officer Dr Robert Nussbaum said, “As an analysis of our data shows, there is still a long way to go in Australia in ensuring all those eligible or interested in genetic testing have both the knowledge of, and timely access to, the tests they need to learn of a risk of a hereditary condition, inform their diagnosis and guide treatment."

The company said it does offer genetic testing options for Australians who do not qualify for testing provided by the public health system. It offers testing in Australia through partner Eugene Labs. Dr Nussbaum added tests can be ordered through a healthcare professional.