Technology & Platform
Mdxhealth’s technology platform is called methylation-specific PCR (MSP), which is a DNA-based technology that functions on standard commercial PCR equipment. MSP is extremely powerful and accurate with the ability to detect a single cancer cell among 10,000 healthy cells in any type of bodily fluid or tissue. Mdxhealth has a broad portfolio of DNA methylation biomarkers targeted at individual genes that are used in its different products.
Mdxhealth Technology
In its simplest form, cancer is a disease of the genetic code, our DNA and RNA. Due to environmental factors and aging, alterations to our genetic makeup can result in damaged or unregulated cells that no longer behave as expected. Some of these alterations can result in a survival advantage, meaning the cell can replicate faster or bypass normal cellular checks and balances. Over time, these cells may develop into cancer and as such, molecular diagnostic tools have been developed to investigate these alterations in DNA/RNA.
Mdxhealth uses molecular technology to improve cancer diagnosis, risk assessment, and treatment. Our portfolio of molecular tools has the ability to identify these modifications at the genetic level, assisting physicians in cancer diagnosis, risk assessment, and prediction of an individual patient’s likely response to cancer treatment.
Methylation-Specific PCR (MSP)
While DNA mutations are an integral part of solid tumor diagnosis and treatment selection, epigenetic factors such as DNA methylation are often underrepresented in molecular assays. Promoter hypermethylation in tumor suppressor genes is a hallmark of cancer progression and prostate cancer is no exception. Identifying DNA methylation patterns has become essential for understanding diverse biological processes such as the regulation of imprinted genes, X chromosome inactivation, and tumor suppressor gene silencing in human cancer. Confirm mdx utilizes Methylation-specific PCR to assess the methylation status of CpG sites within promoter regions of three tumor suppressor genes. Promoter hypermethylation of these three genes: APC, RASSF1, and GSTP1, have been identified as progenitor oncogenic events in nearly all prostate cancer cases. This MSP assay entails initial modification of DNA by sodium bisulfite, converting all unmethylated cytosines to uracil while leaving methylated cytosines unchanged, and subsequent amplification with primers specific for methylated versus unmethylated DNA. MSP requires only small quantities of DNA, is sensitive to 0.1% methylated alleles of a given CpG island locus and can be performed on DNA extracted from paraffin-embedded samples. MSP reduces the false positive results inherent to previous PCR-based approaches which relied on differential restriction enzyme cleavage to distinguish methylated from unmethylated DNA.
PCR
PCR (Polymerase-Chain-Reaction) is a laboratory technique initially developed in the 1980s. This technology is considered one of the greatest discoveries in modern medicine and as such, the developers were awarded a Nobel Prize in Chemistry for their discovery. PCR is a laboratory technique that allows for the enhancement of specific DNA sequences, allowing a small sample of DNA to be greatly amplified and thus increasing the signal of the target sequence. When partnered with DNA sequencing, PCR enables the identification of bacteria and viruses, the detection of genetic abnormalities that may predispose patients to specific diseases, and for determining genetic or genomic alterations that lead to a cancer diagnosis. PCR workflow is quite simple; first, the DNA is extracted from the sample and added to a machine known as a thermal (temperature) cycler. The target sequence is determined, and DNA primers are added to specify which DNA sequence will be amplified. DNA building blocks and an enzyme known as taq polymerase are added to the reaction vessel. The thermal cycler heats and cools the sample in a specific manner to induce exponential amplification of the target sequence. Quantitative PCR (qPCR) adds the ability to quantify the amount of nucleic acid produced in the PCR reaction. Most commonly, fluorescent dyes or probes are utilized to monitor amplification in real time, allowing for a real-time concentration assessment of the DNA being produced. Several of the mdxhealth assays utilize qPCR at some point to quantify the amount of nucleic acid in a patient specimen. Both Exo mdx and the GPS mdx assay also utilize qPCR to determine the quantity of specific RNA sequences asociated with prostatic cancer. With our patented algorithms and testing methods, these assays provide risk assessment for men undergoing a prostate cancer diagnosis.
Exosome-Based Liquid Biopsy Platform
Exosomes are small extracellular vesicles released by cells into biofluids such as urine and blood, where they function as powerful biological messengers carrying RNA, DNA, and protein that reflect the cell of origin. Exosome Diagnostics was founded by Dr. Johan Skog in 2008 following his landmark discovery that exosomes contain diagnostically actionable RNA biomarkers and act as “super‑communicators” between cells, enabling non‑invasive molecular insights through liquid biopsy. As the exosome research field has rapidly expanded, Exosome Diagnostics, a subsidiary of mdxhealth, has remained at the forefront, developing the world’s first exosome‑based liquid biopsy tests and establishing a leadership position supported by more than 250 issued and pending patents. A key advantage of exosome‑based testing is their exceptional stability; the lipid bilayer surrounding exosomes protects exosomal RNA, DNA, and proteins from degradation by enzymes commonly found in biofluids, allowing reliable biomarker detection over extended periods of time. Mdxhealth’s exosome isolation platforms are designed to efficiently capture high‑quality exosomal analytes without degradation, even from samples stored for up to 25 years. This allows for non‑invasive testing such as mdxhealth’s Exo mdx test, which uses urinary exosomal RNA biomarkers to support prostate cancer risk assessment and clinical decision‑making.
Intellectual Property
Mdxhealth believes that our patent portfolio places the Company in a competitive position in the realm of molecular cancer diagnostics. We own or hold exclusive rights to a range of issued and pending patents in multiple countries worldwide covering our epigenetic and molecular tests and associated biomarkers and their methods of use. Many of our commercially important epigenetic technology and inventions are in-licensed from academic and commercial collaborators, including Johns Hopkins University.
Through our internal R&D programs, together with our NXTGNT (Epi)genomics research joint-venture with University of Gent and other academic and commercial collaborations, mdxhealth continues to be at the forefront of researching and understanding the link between cancer and methylation, and how this link can be translated into meaningful clinical and pharmaco molecular diagnostic products and services. We consider patent protection of the technologies, on which our products are based, to be a key factor to our success. Our intellectual property portfolio is managed by an in-house intellectual property team, which works in close collaboration with qualified external patent attorneys both in Europe and the United States.
