Partners updating AI platform with aim of faster rare disease diagnosis
University of Miami researchers working with Sivotec on enhancing GENA
Researchers at the University of Miami are collaborating with artificial intelligence (AI) software company Sivotec Bioinformatics to enhance the GENA platform — a tool designed to accelerate the diagnosis of rare genetic diseases like aromatic l-amino acid decarboxylase (AADC) deficiency.
The project is led by Kaan Inal, PhD, a professor at the university’s Frost Institute for Data Science and Computing (IDSC). The team aims to modernize the current platform by integrating more advanced technologies, expanding its global reach, and making its language more accessible for physicians who may not specialize in genetics, according to a university news story.
The novel tech is primarily focused on identifying rare diseases in children.
The university noted that the updated platform is expected to launch by the end of 2025, and will offer personalized treatment options based on each patient’s genetic profile. After removing identifying information, patient genetic data will be compared with evidence-based databases to help physicians identify appropriate treatment options, per the researchers.
“Geneticists across the U.S. are already using GENA’s existing data analytics platform, but we are moving it to a greater AI-enabled platform,” said Justin Gammage, PhD, IDSC’s director of data science partnerships. “We will also be adding a lot of features to improve functionality.”
Currently, diagnosing a child with a rare disease can take several years and usually involves visits to multiple specialists before reaching a geneticist who can conduct specific genetic testing. In the meantime, the disease may worsen without proper treatment.
Updates to AI platform GENA aim to make genetic testing more accessible
The GENA platform leverages AI to make genetic testing more accessible, affordable, and efficient for both patients and healthcare providers. According to Sivotec, it has the potential to accelerate diagnoses by more than 95%, improving lab throughput and lowering the cost of data interpretation.
“This platform is poised to redefine the future of learning, diagnosis, treatment, and research in health care,” said Guillermo Prado, PhD, interim executive vice president for academic affairs and provost at the University of Miami.
GENA’s features include GENA screen, a prediagnostic decision support tool that uses AI to assess whether genetic testing is appropriate based on a patient’s symptoms and health indicators. If testing is recommended, it can be ordered directly through the platform and tracked in real time.
This [AI] platform is poised to redefine the future of learning, diagnosis, treatment, and research in health care.
Once genetic testing data is available, it is uploaded to the GENA test, which allows the visualization and analysis of data. This aids result interpretation, and reduces costs, while also helping speed the time to diagnosis, per the company.
GENA analysis, integrated within the GENA test, helps providers interpret genetic findings and develop personalized care plans based on each patient’s unique genetic profile.
“We are using AI to bring [genetic testing] to the more than 1 million pediatricians, primary care physicians, and specialists in this country,” said Pete Martinez, chairman and CEO of Sivotec. He also noted that he hopes to continue the partnership with IDSC to further expand the platform, adding more rare diseases and moving toward a more proactive, predictive, and personalized model of care.
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