For millions of patients, a rare disease diagnosis is a years-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 painful journey for the family: In the US, it takes on average 5.5 years and consultation with more than seven different specialist physicians to properly diagnose a patient.

To address these challenges, GENA™, a SIVOTEC service, today announces the launch of GENA Screen, an AI-driven pre-diagnostic clinical decision support tool designed to help clinicians identify potential genomic diseases before genetic testing. Built on the GENA AI platform, which is trusted by more than 1,600 geneticists and has supported over 160,000 analyses in 40 countries, GENA Screen offers real-time decision support to physicians, helping reduce misdiagnoses and shorten time-to-treatment for patients with rare and complex diseases.

"We are at the edge of one of the most significant impacts on the human condition. AI will be a catalyst to bring genomics to the masses in ways that no one could have imagined. This is game-changing," said Pete Martinez, Founder & CEO of SIVOTEC.

Despite the critical role of genetics in diagnosing and treating diseases, most doctors lack the resources to effectively integrate genomic insights into patient care. In the U.S., there are only 5,000 geneticists and counselors compared to over one million non-geneticist clinicians. Without proper tools, rare and complex genetic diseases often go undiagnosed or misdiagnosed for years.

GENA Screen is designed to eradicate this gap. By leveraging AI to analyze symptoms and risk factors, the application helps doctors determine whether genetic testing is recommended and which direction a geneticist or further specialist should be consulted. With faster insights, physicians can take proactive steps toward early intervention, ultimately improving patient outcomes.

“This is the future of Medicine. The speed and big data analytics capabilities of AI are limitless, and we are embracing it in everything we do,” added Dr. Ruel Stoessel, MD. 

GENA Screen is now accepting pilot physicians, medical groups and hospitals. Clinicians and healthcare organizations interested in participating in the GENA Screen pilot program can sign up on the GENA website and explore how to bring AI-powered early detection into their practice.

SIVOTEC, through GENA, continues to drive innovation in AI-powered healthcare. On March 26-27th at eMerge Americas in Miami, the company will join industry leaders to discuss the role of AI in genomics and the future of early disease detection.