Genetic tests for predisposition to breast and ovarian cancer focusing on BRCA mutations were among the first cancer genetic tests to become available for clinical use in the mid-1990s.

The BRCA gene test uses DNA analysis to identify mutations in either one of the two breast cancer susceptibility genes — BRCA1 or BRCA2.

Women who have inherited mutations in these genes are at an increased risk of developing breast cancer and ovarian cancer compared with the general population.

The BRCA gene test is offered only to people who are likely to have an inherited mutation based on personal or family history, or who have a specific type of breast cancer. The BRCA gene test isn't routinely performed on women at average risk of breast and ovarian cancers.

Approximately 15% of women diagnosed with breast cancer have some type of family history of the disease, but only about a third of those women will have a BRCA mutation.

In up to 95% of breast cancer cases, the cancer developed not because of an abnormal gene being passed down from a parent to his or her child. Instead, they are caused by a woman’s genetic makeup combined with environmental factors.

This type of breast cancer is called sporadic breast cancer and often takes a woman by surprise.

As this type of breast cancer is not associated with known genetic mutations such as BRCA, they have to be defined by other genetic markers common to the population at large and remain a significant un-met need.

Australia-based Genetic Technologies (NASDAQ: GENE) launched its GeneType for Breast Cancer test to meet this need and to help clinicians identify women with increased risk of developing sporadic breast cancer in the next five years.

The company’s clinically validated risk assessment test for non-hereditary breast cancer is the only such test available that integrates a woman’s polygenic risk score with key clinical risk factors to better stratify at-risk patients and is appropriate for 95% of women.

There are certain clinical risk factors that increase a patient’s risk of developing breast cancer.

Some risk factors are within a patient’s control (such as diet and exercise), and some factors are outside of their control (such as being a woman or age).

Genetic Technologies’ GeneType for Breast Cancer combines key risk factors, including age and first-degree relatives with breast cancer history, with genetic marker analysis.

GeneType for Breast Cancer specifically looks for differences in a patient’s DNA known as Single Nucleotide Polymorphisms (SNPs).

Because certain SNPs are associated with breast cancer, analyzing them can help predict a patient’s chances of developing breast cancer in the future.

The total risk from all SNPs analyzed in GeneType for Breast Cancer is referred to as a patient’s polygenic risk score.

Integration of the polygenic risk score with the three most significant clinical risk factors (sex, age, and first-degree family history) can provide a more accurate five-year risk score than the clinical factors alone and thus can better guide clinical prevention and screening recommendations.

Ultimately, these improvements mean better patient outcomes.

Moreover, early detection of higher-risk patients leads to more efficient use of screening resources, such as mammography and MRI, reducing over-screening of low risk populations and increasing screening of those with the highest risk profiles.

The annual market potential for GeneType for Breast Cancer is estimated at $600 million.

GeneType for Breast Cancer is the third-generation test for breast cancer from Genetic Technologies.

Validated and CLIA-approved for use in Caucasian, Hispanic, and African-American women over the age of 35, the first-of-its-kind test uses a simple, non-invasive cheek swab, positioning the test for rapid and cost-effective clinician adoption.

The company has already secured robust intellectual property rights for GeneType for Breast Cancer, including four patents granted in the U.S. and six pending. These IP protections provide a solid advantage as the company moves forward.

Sales of GeneType for Breast Cancer are expected to begin in the first quarter of 2020.

Genetic Technologies has secured research agreements with Memorial Sloan Kettering Cancer Center (MSKCC) and the University of Cambridge, amongst other partnerships.

MSKCC is the world’s oldest and largest cancer treatment and research institution, and the University of Cambridge is a world leading cancer biotech center.

Other key partnerships include Ohio State University and the Nurses’ Health Study at Harvard University.

As part of its development and commercialization strategy, Genetic Technologies has signed a three-year collaboration agreement with The Translational Genomics Research Institute (TGen) of Phoenix, Arizona, a non-profit biomedical research organization dedicated to conducting ground-breaking research with life-changing results.

Under the terms of the agreement, Genetic Technologies and TGen are collaborating on the design and feasibility analysis of clinical research studies to support the clinical application of the company’s polygenic risk tests.

The initial focus of the studies will be the clinical utility of the company’s GeneType Breast Cancer and GeneType Colorectal Cancer risk tests, with the goal of demonstrating the value of these tests for clinicians when assessing individual risk profiles.

Once completed, it is expected that these studies will provide strong clinical evidence to support the use of the company’s polygenic risk tests as an important routine tool in predicting individual disease risk, assisting clinicians in the development of individual risk management programs for improved prevention and treatment of these diseases.

Genetic Technologies and TGen also plan to establish a joint U.S.-based CLIA laboratory to offer the tests and work together to raise the funding necessary to support their alliance.

Speed to market is critical in the genomics sector.

Genetic Technologies’ established network of academic collaborators accelerates the clinical validation process for new tests, enabling the company to rapidly introduce new products to a global market.

In addition to its enhanced tests for breast cancer and colon cancer, tests for Type 2 Diabetes, cardiovascular disease, prostate cancer, and melanoma are currently in development. The company expects to bring these tests to market in 2020.