Aussies Must Rise to Genetics Challenge as New Analysis Reveals Raw Reality for Cancer Families

08 Jun 2022

Pink Hope launches an advocacy collaboration to help Australian families get the answers they need sooner, as new analysis highlights the potential barriers and delays to genetic testing across the nation

  • Families failed by red tape: A new analysis from Invitae, a leading medical genetics company, reveals that up to two-thirds of Australian breast cancer patients with high risk, hereditary gene variants (such as BRCA) would not qualify for genetic testing due to the nation’s eligibility criteria and would be unable to access what can be life-changing knowledge.1

  • Consequences of delayed testing: For those who do receive a referral for genetic testing in NSW, they can face over a 12 month or longer wait time2 – during which they and their family members could develop cancer, have their cancer progress, or not get access to personalised treatment that could increase survival.

  • A new genetics advocacy collaboration launches today with the aim to educate and empower Australians to get information and access to genetic testing faster: The initiative includes a Genetic Pathway Resource to help people navigate the genetic testing pathways available, so they get the answers they need to understand their hereditary cancer risk.


8 JUNE 2022 (SYDNEY) An analysis of data from Invitae – a leading medical genetics company – has revealed that applying the nation's current testing eligibility criteria would make up to two in three Australian families with breast cancer (60%), who have high risk, hereditary gene variants, unable to access potentially life-saving genetic testing.

Even those who do qualify for public testing often end up on a waitlist, during which time they could develop cancer or have their cancer progress. In NSW alone, those who do receive a referral for public genetic testing can face a 12 month, or longer, wait time.2

Roughly 1 in 20 (5%) of women with breast cancer and about 1 in 7 (15%) of women with ovarian cancer have an inherited mutation in a known high-risk cancer gene.3 These genetic variants have also been linked to other cancers such as prostate, bowel (particularly Lynch syndrome), and pancreatic cancer, as well as melanoma.4

Sarah Powell, Chief Executive Officer at Pink Hope, said: “When a person is diagnosed with cancer, there can sometimes be genetic factors behind the disease. This also means their children, and other blood relatives, may also be at increased risk for a range of cancers.

"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.‚Äč”

Ultimately, with no nation-wide standard of care driving practice, too many patients face confusion over what pathway to follow to receive genetic testing (whether that’s public or private). Expanding the testing criteria, as a first step, can work to ensure everyone at risk has a better chance at identifying genetic variants and therefore potentially improved personalised management options for many patients diagnosed with cancer, and their families.1

Dr. Robert Nussbaum, Chief Medical Officer at Invitae, explained: “Invitae is committed to empowering people to make decisions about their health through the power of genetics. 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.”

"Invitae has always been on a global mission to democratise genetic testing and now offers two accessible, affordable options for Australians who don't qualify for public health genetic testing, or who want their results as soon as possible. Invitae tests can be ordered through a qualified healthcare professional or via our partner, Eugene Labs, a specialist genetics service in Australia.”

Prof David Amor says: "The advances in our knowledge of genetics in diseases has opened up many exciting medical advances. But, it has also put the public health system under extraordinary pressure. There is a need to help people understand the public and private options available to them for genetic testing in Australia. Anything that helps increase awareness of, and equitable access to, genetic health information is a great step forward."

The Genetic Pathway Resource is available for download here. For more information and helpful resources on the genetic risk involved in cancer and genetic testing, visit Invitae at or Pink Hope at

To find a qualified genetic counsellor visit 

To visit Invitae 

About Pink Hope

Pink Hope is a preventative health hub that gives our community the tools to assess, manage and reduce their risk of breast and ovarian cancer, while also providing personalised support for at-risk women. 

As an independent advocacy organisation Pink Hope does not endorse one particular genetic testing option over another, and always insists patients consult with a qualified healthcare professional to decide what pathway is right for them. 

About the research

Invitae Corporation conducted research whereby a prospective U.S.-based cohort of 953 unselected breast cancer patients referred by their providers for multigene germline genetic testing were retrospectively analysed – 50% of whom met U.S. National Comprehensive Cancer Network (NCCN) testing criteria and 50% of whom did not meet criteria.5 The cohort consisted of primarily Caucasians of Northern European ancestry, a similar ethnic distribution to that of Australia. 

Assuming that the diagnostic yield from genetic testing for hereditary breast and ovarian cancer would be similar between US and Australian patients, we applied the eviQ BC referral criteria (1620 v6) to the same cohort of 953 breast cancer patients to determine the proportion of individuals who would have been recommended for further evaluation for genetic testing eligibility. 

The analysis focused on the yield of pathogenic germline variants in high-risk breast/ovarian cancer genes with eviQ clinical management recommendations. Overall, 4.5% of patients carried disease-causing inherited variants in genes with eviQ clinical management recommendations. Importantly, testing only those who met the referral guidelines would have missed two-thirds of the 43 individuals with these high-risk inherited variants. These results are in line with previously published results.   


  1. Invitae Corporation. Data on file.
  2. NSW Government & Agency for Clinical Innovation. Organisational model of care: Clinical genomics model of care. Available at: Date Accessed: May 2022
  3. Pink Hope. Gene Mutations. Available at: Date Accessed: May 2022
  4. Genomics for Life. Inherited Cancer Testing. Available at: genetic mutations can be, then in the general population. Date Accessed: May 2022
  5. Beitsch, P. D., Whitworth, P. W., Hughes, K., Patel, R., Rosen, B., Compagnoni, G., Baron, P., Simmons, R., Smith, L. A., Grady, I., Kinney, M., Coomer, C., Barbosa, K., Holmes, D. R., Brown, E., Gold, L., Clark, P., Riley, L., Lyons, S., Ruiz, A., … Nussbaum, R. L. (2019). Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 37(6), 453–460.
  6. Rowley, S.M., Mascarenhas, L., Devereux, L., Li, N., Amarasinghe, K.C., Zethoven, M., Lee, J.E.A., Lewis, A., Morgan, J.A., Limb, S., Young, M.-A., James, P.A., Trainer, A.H. and Campbell, I.G. (2019). Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility. Genetics in Medicine, [online] 21(4), pp.913–922. doi:10.1038/s41436-018-0277-0.