Molecular diagnostics company Genetic Technologies Limited’s (ASX: GTG) third generation breast cancer test GeneType is on track for commercial release in the Unites States in Q1 2020.
Acting CEO Dr George Muchnicki said the company expects to take advantage of the growing confidence and interest in genomic testing, and its first to market status in the US market.
Dr Muchnicki said a “soft” launch of GeneType will be undertaken in Quarter One across 20 centres in eight States, which demonstrates the strong support from practitioners for the introduction of the company’s third generation test incorporating mammography data. The company anticipates a full launch in Q2 (2020).
Following a successful CLIA audit in December 2019, the company now has continuing CLIA certification for its laboratory developed tests in all 50 States in the US, and also maintains licenses in all individual States that require supplemental accreditation including New York. In addition, the company’s current 35,000 test laboratory capacity has the ability to be scaled up in line with demand.
Dr Muchnicki said there is now significant maturity in industry acceptance of polygenic risk scores as a tool for measuring the risk of cancer and other common complex diseases.
BC polygenic risk was originally identified in Genome Wide Association studies (GWAS) comparing hundreds of thousands of BC cases to controls (no BC). This work has since then been cross validated in numerous international consortia consisting of tens of thousands additional women (case/controls cohorts).
Only one in 500 women carry a BRCA mutation, representing 0.2% of the population.
Dr Muchnicki said GeneType for BC will help classify the other 99.8% of women into risk categories. Women identified as high risk will, together with their practitioners, now have the opportunity to choose supplemental screening and prevention options to meet their breast health needs.
He said the company’s test is uniquely placed to accurately predict BC risk, with the ability to identify low (1/5 of average risk) as well as high (5 x average risk) risk patients from the age of 35.
“Furthermore, the addition of mammography data to the GeneType for BC test enables the ability to better stratify women with dense breast tissue. Dense breast tissue presents unique challenges due to the increased risk of BC and poor visualisation of breast tissue abnormalities, a phenomenon known as masking.”
Dr Muchnicki said the use of the cheek swab and a significant uptake across millions of genetic ancestry users has resulted in a massive increase in interest in Genomics, and in Health Genomics to achieve affective personal medical outcomes.
“2019 represented a tipping point for the Genomics industry, with the call from KOLs and industry leaders for the introduction of Polygenic Risk Score (PRS) into clinic guidelines. Terms such as “powerful, accurate, better outcomes, lower mortality, better use of medical resources” are a mantra that has never before been stated so boldly or so often.
“GeneType for BC is well positioned to take advantage of this change, and provides a best in class genomic solution for the identification of BC risk, as well as better stratification of risk in the nearly 50% of women who have heterogeneous or extremely dense breast tissue. With the recent US federal mandate surrounding breast density notification, GeneType for BC is positioned to support clinicians in managing patient risk of developing BC in the context of dense breast tissue.
The company anticipates strong interest in its test which has been discovered and cross-validated in GWA studies and large consortia cohorts, respectively. This data includes hundreds of thousands of women, with and without breast cancer, underscoring the significance of polygenic risk in the risk stratification of sporadic breast cancer,” Dr Muchnicki said.