gMendel® technology is a groundbreaking, AI-powered solution that delivers accurate, fast, and affordable screening for genetic conditions at scale. By facilitating earlier interventions, it reduces patient suffering and has the potential to save healthcare systems billions globally. What sets gMendel® apart is its scalability and focus on mass genetic screening rather than individual diagnostics. Operating on a SaaS model, our platform processes hundreds of thousands of samples, significantly enhancing the speed and efficiency of genetic screening for large populations.
This approach not only expedites diagnosis but also democratizes access to genetic insights, enabling large-scale health interventions that are both feasible and financially sustainable. By seamlessly integrating genomics with AI, gMendel® surpasses existing technologies, delivering faster, more affordable, and superior results—all without requiring skilled personnel (i.e. Bioinformaticians for analysis and Geneticists for interpretation). In 2022, we became the world’s first IVD-certified technology for screening genetic disorders using long-read sequencing and AI, proudly achieving the CE mark.
The gMendel®Test operates as a digital sensor by calculating fractions of reads from one given chromosome, gene or a region of a gene. It is possible to count aneuploidies, identify aberrations from a normal karyotype, receive a “positive” signal for insertions of nucleotides, and “negative” signals for deletions of nucleotides. When there are point mutations, the measured nucleotide will be different from the reference nucleotide and therefore the transmitted signal will be neither positive nor negative, but it will have a different width from the reference nucleotide.
Variants are analysed, classified and assessed with the support of our proprietary Phivea® platform. Phivea® uses a custom tailor-made analysis pipeline for genetic disorders detection. Only the sequences that meet the quality criteria are processed and de-multiplexing of barcodes (based on Person classification) is executed. The multi-level multiplexing labels each DNA sample with a molecular barcode.
The plurality of DNA samples is organized into several groups, each having a unique group barcode, and each sample within a group has a unique sample barcode. Multi-level multiplex process in parallel genomic data from multiple sources containing replicates of each source and a reference pool for build-in benchmarking and calibration of the diagnostic compute model and quality estimation. Finally, the diagnosis is done following a multi model fusion strategy, the outcomes of the individual models are combined into a single and accurate decision.
All data are secured by blockchain technology. This technology uses two types of security approaches i.e. Cryptography and Hashing, producing a structure of data with inherent security qualities. In conclusion, Phivea® produces encrypted data more sensitively and securely in a shorter period of time.
With the gMendel®Test, National Health Systems gain access to an affordable, accurate, and scalable solution for mass screening in prenatal and newborn care. Early diagnosis enables timely intervention—potentially saving up to €500,000 per patient by preventing long-term complications and significantly lowering healthcare costs.
Families affected by genetic disorders can now access accurate and affordable screening—leading to quicker diagnoses, earlier medical care, reduced financial strain, less stress, and more meaningful time together.
Laboratories and clinics can benefit from lower downstream expenses, shorter lead times and high quality patient referrals and admissions. As a result, they can offer improved services and experience to their patients.
gMendel®Test is an AI-powered vertically-integrated IVD certified technology that delivers accurate, fast, and affordable identification of patients for clinical trials and identification of eligible patients towards precision treatments.