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World’s First Comprehensive Risk Test for Breast & Ovarian Cancer Launched

Every year, more than 2.26 million cases of breast cancer and 313,000 cases of ovarian cancer are diagnosed across the world. Currently, women are under-screened and under-diagnosed for the risk of hereditary breast and ovarian cancer syndrome (HBOC) based on their clinical criteria.

There is significant evidence to suggest that these criteria do not capture all women who are HBOC carriers. For instance, one recent general population screen among more than 6,000 women found that out of 38 HBOC carriers identified, almost half would not have qualified for HBOC testing based on clinical criteria and their elevated risk of cancer would not have been identified. Now, the world’s first comprehensive risk assessment test can evaluate a woman’s risk of developing breast and/or ovarian cancer either from a hereditary genetic mutation or from the far more common familial or sporadic cancer. Combined with other clinical risk factors, the test provides a comprehensive risk assessment in a simple saliva test.

Genetic Technologies Limited (Melbourne, Australia) has launched the world’s first comprehensive risk test for breast and ovarian cancer that integrates its patented and proprietary GeneType platform. The test’s unique approach “appends” the detection of the 13 major “actionable” breast and ovarian cancer susceptibility genes to the GeneType test platform. The test results in a higher classification rate of women at elevated risk of breast and ovarian cancer than traditional clinical tools by assessing breast and ovarian cancer susceptibility from both rare and common genetic variants, in addition to other known clinical risk factors associated with the development of both diseases. It advances the goal of providing population-based genetic screening for breast and ovarian cancer where up to 85% of cancers diagnosed do not have hereditary or family history.

The new test platform targets women over 30 years of age in the general population who face a higher risk of developing breast and/or ovarian cancer, not just from rare genetic mutations. Genetic Technologies’ comprehensive risk assessment for both the cancers inform women of their risk profile and provide them the opportunity to take proactive actions for increasing screening and reducing their risk of developing these diseases. The risk assessment is performed from a single saliva sample and a brief questionnaire. Supplemental screening in a subpopulation of women identified as at-risk by geneType can result in an increase in early-stage, screen-detected cancers, which is associated with a high five-year survival rate of 99% and 93% for breast and ovarian, respectively.

“GTG believes this Comprehensive Risk Test for Breast and Ovarian Cancer is one of our most important and significant contributions to the advancement of population-based genetic testing,” said Simon Morriss, CEO of Genetic Technologies Limited. “We are moving beyond rare cancer-susceptibility genetics. We can look for the needle in the haystack, but we are also able to look at the haystack itself. Our non-invasive risk assessment test will address cancer risk at a population health level.”


  • Melbourne VIC, Australia
  • Genetic Technologies Limited