AI Summary
This article discusses how a machine learning tool has been developed to speed up the diagnosis of patients with rare immune disorders. The tool identifies patterns in electronic health records to help diagnose patients earlier, potentially improving outcomes and reducing costs. The study focused on common variable immunodeficiency (CVID), a group of disorders that are difficult to diagnose due to their rarity and variability in symptoms. This new approach could significantly impact the diagnosis and treatment of patients with rare diseases.
Researchers say a machine learning tool can identify many patients with rare, undiagnosed diseases years earlier, potentially improving outcomes and reducing cost and morbidity. The findings, led by researchers at UCLA Health, are described in Science Translational Medicine.
“Patients who have rare diseases may face prolonged delays in diagnosis and treatment, resulting in unnecessary testing, progressive illness, psychological stresses, and financial burdens,” said Manish Butte, MD, PhD, a UCLA professor in pediatrics, human genetics, and microbiology/immunology who cares for these patients in his clinic at UCLA. “Machine learning and other artificial intelligence methods are making their way into health care. Using these tools, we developed an approach to speed the diagnosis of undiagnosed patients by identifying patterns in their electronic health records that resemble those of patients who are known to have the disorders.“
This study focused on disorders collectively called common variable immunodeficiency (CVID), which often elude diagnosis for years or decades after symptom onset because the disorders are rare, symptoms can vary greatly from person to person, and symptoms tend to overlap with those of other, more common, disorders. Additionally, the disorders in each individual are often driven by changes in only one gene – but not the same gene from one manifestation of the disorder to another – and over 60 genes have been implicated thus far. Without a single causal mechanism, there are no genetic tests to provide a definitive diagnosis.
CVID is one of the most common human inborn errors of immunity (IEI) –