Genetic Disorders

Genetic disorders affect nearly 350 million families with children, worldwide.

Challenge

Over 350 million people worldwide suffer from more than 10,000 genetic disorders/rare diseases. On average, it takes 7 years to reach a correct diagnosis, with over 40% of patients initially misdiagnosed. The global societal burden exceeds €2 trillion, underscoring the urgent need for faster, more accurate, and affordable screening and diagnostic solutions to enable timely treatment.

Every year, 140 million babies are born, and 7 million will have a genetic disorder. Unfortunately, most of these cases go undiagnosed or misdiagnosed due to the limitations of current screening methods—leading to delayed interventions, poorer health outcomes, and significant financial strain for families and healthcare systems.

In the Global North, outdated technologies result in over 400,000 false positives, causing unnecessary emotional distress and avoidable costs.

In the Global South, 95 million newborns have no access to genetic screening at all, missing the critical window for early diagnosis and life-saving treatment.

The challenge is clear: we need affordable, accurate, and scalable mass screening solutions—especially in prenatal and newborn care. Early intervention can prevent long-term complications and reduce lifetime healthcare costs by up to €500,000 per patient, while the total cost of disease management can exceed €2.5 million per case.

At the heart of it all is infant mortality—one of the most powerful indicators of a society’s quality of life and prosperity. Newborn screening is one of the most effective tools we have to improve it.

Solution

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.