GENA highlights how AI and genomic intelligence transform rare disease identification, speeding diagnosis and improving patient outcomes worldwide.
BOCA RATON, FL, UNITED STATES, February 12, 2026 /EINPresswire.com/ — February 5, 2026 — In recognition of Rare Disease Month, GENA is highlighting how artificial intelligence and genomic intelligence are transforming the way rare genetic diseases are identified, diagnosed, and understood, dramatically reducing time to diagnosis and improving patient outcomes worldwide.
For millions of patients, a rare disease diagnosis is a long odyssey. Studies show that more than 70% of rare disease patients are initially misdiagnosed, resulting in a delay of treatment by over a decade and a painful journey for the family. In the US, it takes, on average, 5.5 years and consultation with more than 7 different specialists to properly diagnose a patient.
Rare diseases affect more than 300 million people globally, yet patients often endure years of misdiagnoses, unnecessary testing, and delayed care. GENA’s AI-powered platforms were built to address this challenge head-on by bringing expert-level genetic insight directly to the point of care.
At the center of this innovation is GENA Screen, an AI-driven clinical decision support platform that empowers clinicians to determine, within seconds, whether genetic testing is warranted based on patient symptoms and clinical indicators. By codifying the reasoning processes of highly trained geneticists, GENA Screen delivers clear recommendations, narrows potential conditions to manageable lists, and integrates seamlessly into existing clinical workflows, including EHR systems.
“Although GENA was not available when my son Jordan started his painful journey towards a diagnosis, I was able to retroactively put Jordan’s symptoms into GENA and validate his condition.” said David Ogman SIVOTEC and GENA ambassador, “I wish that I had GENA 6 years ago on our diagnostic journey! The ability to simulate and visualize different symptoms, in real-time, plus find supporting, trusted medical documentation is a blessing for kids and their parents.”
What once took genetic specialists three to four days per case can now be accomplished in approximately 10 seconds, with higher accuracy and continuously updated medical intelligence. To date, the GENA platform has supported the analysis of over 162,000 cases across 40 countries through more than 600 children’s hospitals, generating one of the largest, rare disease genomic datasets of its kind.
“The genetics of disease should not be a barrier to care; it should be the foundation of better decisions,” said Pete Martinez, CEO & Founder of SIVOTEC and GENA. “This Rare Disease Month, we reaffirm our commitment to making genomic intelligence accessible and trusted across healthcare systems so clinicians can deliver answers sooner and with confidence.”
With fewer than 5,000 geneticists and counselors in the United States, access to specialized expertise remains a major barrier, particularly for primary care providers, pediatricians, and clinicians in rural or underserved areas. GENA Screen bridges this gap by enabling non-geneticists to focus on observed symptoms while the AI identifies potential underlying genetic conditions in real time.
This capability reduces unnecessary referrals and testing, lowers healthcare costs, and supports earlier intervention, often the most critical factor in rare disease outcomes.
In parallel, GENA EDU is advancing rare disease education through CME-accredited, case-based learning programs designed for medical students and clinicians in training. The flagship course, “Unlocking Rare Disease Diagnosis in Real-Time Using AI and Genetic Databases,” provides hands-on experience with GENA Screen, helping learners develop confidence in genetic testing decisions while building fluency in AI and genomics, two of the most transformative forces in modern medicine.
Developed by SIVOTEC Inc., the GENA platform represents a shift from fragmented, specialty-driven care to whole-body intelligence. Using a proprietary Private Language Model (PLM), GENA integrates genomics, lab data, medications, medical conditions, and lifestyle factors to uncover root causes, not just symptoms, while providing transparent clinical documentation to support decision-making.
A Call to Action for Rare Disease Month
This Rare Disease Month, GENA reaffirms its commitment to earlier detection, faster diagnosis, and equitable access to genomic intelligence—so that patients and families spend less time searching for answers and more time receiving the care they need.
Learn more:
GENA Screen: https://genadna.ai/solutions/gena-screen
GENA EDU: https://genadna.ai/solutions/gena-edu
Maria Fernanda Trochimezuk
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