HOW AI IS CHANGING THE DIAGNOSIS AND CARE OF RARE DISEASES

In hospitals, labs, and research centers around the world, artificial intelligence (AI) is transforming the way doctors diagnose and treat rare diseases.

- Dr. Amit Saraf, Group Quality Head, Director - Internal Medicine Department, Jupiter Hospital Thane.

Collectively, these conditions affect more than 350 million people globally, yet they remain undetected for years, with patients suffering from symptoms that are misunderstood, misdiagnosed, or ignored. AI is becoming an increasingly useful ally, recognizing elusive patterns, accelerating diagnoses, and facilitating the creation of tailored treatments that seemed impossible until now.

The Singular Challenge of Rare Diseases

Rare diseases are characterized by their low incidence, but as a collective group, they are substantial. Since more than 7,000 rare diseases exist, the vast majority of those affected have long, exasperating odysseys to the correct diagnosis. Rare diseases often present similarly to more frequent ailments, so early detection is challenging with conventional diagnostic techniques. Too often, patients see several specialists, receive a battery of tests, and spend years trying to get an answer. For instance, Ehlers-Danlos syndrome (EDS), a collection of connective tissue disorders, is usually confused with fibromyalgia or psychosomatic pain. Likewise, Fabry disease is usually misdiagnosed as rheumatoid arthritis or gastrointestinal pathology. These delays in diagnosis may result in irreversible complications that range from organ damage to child developmental delay.

Traditional medicine, even with high-tech testing, finds it difficult to provide quick and accurate results. This is where Al promises a ray of hope.

The Potential of Al in Diagnosing Rare Diseases

Quick and Knowledgeable Diagnoses

Al is able to analyze and process enormous amounts of data, from clinical narratives and symptoms to genetic and imaging reports, and spot connections among apparently unrelated bits of information. By highlighting connections that might not be apparent at first glance, Al reduces the amount of time spent thinking about and verifying rare disease diagnoses.