- While genetic testing has gained immense popularity for its ability to diagnose monogenic diseases, Polygenic Risk Score (PRS) is likely to be the future disease risk predictive testing.
- Dual-listed Genetic Technologies (ASX:GTG) is developing PRS for major oncological, metabolic, and degenerative diseases for over a decade.
- GTG’s proprietary platform supports several PRS tests, targeting healthy individuals for the identification of serious disease risk.
- GTG has also lately filed a provisional patent application for its COVID-19 risk test with IP Australia.
- The Company expects the release of COVID-19 sdr test in Q4 2020.
- The Company has a robust patent portfolio, including five granted patents each in the US, China, and Hong Kong.
While genetic testing has gained immense popularity for its ability to diagnose monogenic mutations, experts believe that Polygenic Risk Score (PRS) is the future of predictive testing. Unlike genetic testing that captures only inherited diseases, PRS can capture non-inherited or sporadic diseases.
It is worth understanding that the genetic basis of most cases of common complex diseases (like asthma, heart disease and cancer) is not monogenic, but polygenic. While genetic testing can diagnose diseases caused by changes in a single gene, PRS can predict a patient’s risk of developing a certain disease by analysing different DNA variants across a genome.
The use of PRS enables physicians to make better screening and disease mitigation decisions and for the first time offer a personalised precise, preventative health platform to their patients.
Genetic Technologies: Developing Polygenic Risk Scores
Dual-listed Genetic Technologies Limited (ASX:GTG, NASDAQ:GENE) is developing polygenic risk scores for major oncological, metabolic and degenerative diseases for over a decade.
GTG is a leader in the development of genetic risk assessment tests that offers predictive testing and assessment tools to support physicians in proactively managing patients’ health.
Genetic Technologies has developed world-first polygenic risk tests for breast and colorectal cancer - ‘GeneType for Breast Cancer’ and ‘GeneType for Colorectal Cancer’.
- GeneType for Breast Cancer can determine a woman's risk of developing sporadic breast cancer over time.
- GeneType for Colorectal Cancer can assess a patient's risk of developing colorectal cancer over time.
Besides, GTG has other risk assessment tests under development for cardiovascular disease, prostate cancer, type 2 diabetes, colon cancer and melanoma.
What is Polygenic Risk Score?
Polygenic Risk Score is a DNA based risk assessment tool that weighs an individual’s odds of developing the common complex disease(s). In other words, it is one way to identify the risk of developing a disease based on variation rather than mutations of the patients’ DNA.
It can be used to ascertain the potential impact of combinations of thousands of genetic variants on an individual’s health.
PRS considers both genomic and non-genomic factors, including lifestyle and family history. A validated risk stratification method, genome-wide association study (GWAS), is used to identify the specific variants under PRS. Subsequently, the polygenic risk is determined through a mathematical algorithm that identifies risk from each of these variants.
According to the National Human Genome Research Institute, PRS is not yet routinely used by healthcare specialists as there are no guidelines to practice so far. However, some direct-to-consumer and private healthcare companies have already commenced generating PRS for their consumers.
PRS is largely expected to serve as an essential new tool to guide healthcare decisions in the future.
GTG’s Polygenic Risk Scores Platform
Following extensive research and development for years, Genetic Technologies has developed a proprietary polygenic risk scores platform. GTG’s proprietary risk stratification platform is based on Artificial Intelligence (AI) and big data analytics and is internationally validated by GWAS.
The platform supports several PRS tests targeting healthy individuals for the identification of serious disease risk.
Besides, the platform enables precise personalised solutions for low, average, and high-risk individuals and provides actionable results for those individuals and their physicians. These results comprise lifestyle solutions, personalised screening, chemoprophylaxis (medical intervention) as well as surgical intervention, if appropriate.
GTG’s COVID-19 Severity Risk Test
GTG is developing a PRS test for coronavirus - COVID-19 sdr - that can allow an assessment of the risk of people developing a serious disease should they contract the virus. COVID-19 sdr is a low-cost, accurate assessment tool that is designed to assist in pandemic management in lieu of a vaccine.
It is the world’s first genomic test created to project the risk of hospitalisation and of developing life-threatening complications if the patient contracts COVID-19. The test is simple to implement and suitable for people aged between 30 to 65 years. GTG believes that COVID-19 sdr could be utilised to safely implement herd immunity in the absence of an effective/safe vaccine candidate.
While GeneType Breast Cancer and Colorectal tests are already in the market, the Company expects the release of COVID-19 sdr test in Q4 2020.
Extensive Intellectual Property (IP) Portfolio
Genetic Technologies has a robust patent portfolio that encompasses the breast cancer risk assessment test. GTG’s extensive patent portfolio includes five granted patents each in the US, China, and Hong Kong. Moreover, seven additional patent families are currently pending.
In June this year, the Company announced the grant of a US patent titled “Methods for assessing the risk of developing breast cancer”. The granted patent covers GTG’s proprietary panels of SNPs (single nucleotide polymorphisms) and combination of phenotypic and clinical risk models to create the Company’s risk assessment tool on the market: GeneType for Breast Cancer.
GTG has also recently filed a provisional patent application for the COVID-19 risk test with IP Australia (Methods of assessing the risk of developing a severe response to Coronavirus infection).
GTG holds the potential to produce substantial revenues in the future, on the back of an impressive IP portfolio covering breast cancer risk assessment test and the commencement of its polygenic test in the US. The upcoming developments and regulatory approvals are expected to boost the Company’s growth prospects in the disease risk assessment tests’ space.
As on 17 November 2020, GTG shares were trading at $0.007 (at 11:30 AM AEDT).