Ten Seconds to an Answer Years in the Making

A Florida startup's AI platform cuts rare genetic disease diagnosis from days to seconds and it's already been used in 162,000 cases across 40 countries

29 Apr 2026

A software platform built by a Florida bioinformatics company can diagnose rare genetic diseases in roughly 10 seconds, offering a possible turning point for patients who have historically endured years without a confirmed diagnosis.

Sivotec Bioinformatics, based in Boca Raton, developed the platform, called GENA, to address one of medicine's most persistent shortcomings. More than 70 percent of rare disease patients are initially misdiagnosed, according to company statements, and diagnostic delays of a decade or more are not uncommon. By encoding what the company describes as geneticist-level reasoning into its algorithms and connecting to global genetic databases, including resources maintained by the National Institutes of Health, GENA compresses a process that once took specialists three to four days. The system interprets SNP array results to detect microdeletions, microduplications, and genomic imbalances associated with rare pediatric conditions. It has already been deployed in children's hospitals across 40 countries, supporting more than 162,000 cases.

Yet the platform's ambitions extend well beyond specialist settings. Pete Martinez, the company's chief executive, said he is focused on reaching the more than one million pediatricians and primary care physicians in the United States, often the first clinicians to encounter children with unexplained symptoms. To make that transition viable, Sivotec partnered with the University of Miami's Frost Institute for Data Science and Computing to upgrade GENA's underlying model and simplify its clinical outputs for physicians without genetics training. A pre-diagnostic module within the platform can also help clinicians determine whether genetic testing is warranted at all.

Analysts have noted that expanding AI-driven diagnostic tools into primary care carries both promise and uncertainty. Questions remain around how well such systems perform across diverse patient populations, and how clinicians without specialized training will interpret results that have historically required expert review.

Still, the market context reinforces the broader shift underway. The rare disease diagnostics sector is valued at roughly $1.5 billion in 2026 and projected to approach $8 billion by 2030, with AI-powered tools expected to account for much of that growth. For the estimated one in ten Americans living with a rare disease, the implications are concrete. The results of this expansion could shape clinical practice, and perhaps regulatory standards, in the years ahead.