From genes to diagnoses: How AI is learning to decode illnesses in your DNA

Researchers have found an artificial intelligence system that can predict a type of disease a specific genetic change is likely to trigger. (Picture Credit: Pexels)

Until now, most genetic analysis tools could warn that a mutation might be harmful, but left doctors guessing about what that harm might look like in real life.

Researchers at the Icahn School of Medicine at Mount Sinai have unveiled an artificial intelligence system that goes beyond simply flagging dangerous mutations in our DNA. Instead, it attempts something far bolder, like, predicting the type of disease a specific genetic change is likely to trigger. Known as V2P, short for Variant to Phenotype, the system was designed to cut through the noise of genetic data and point clinicians towards the mutations that actually matter.

V2P tackles that gap using machine learning trained on vast libraries of genetic variants, both benign and pathogenic, matched with detailed disease records. When tested on real patient data, the system consistently ranked the true disease-causing mutation among the top ten suspects, no small feat when thousands of genetic variations are often in play.

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For clinicians, this could mean faster answers for patients stuck in diagnostic limbo, particularly those with rare or complex conditions. For researchers, it offers a clearer view of which genes and biological pathways are actually driving disease. As one of the study’s senior authors said, understanding what kind of illness a mutation causes helps scientists move more efficiently from genetic insight to drug development, rather than wandering blind through the genome.

At present, V2P groups mutations into broad disease families, such as cancers or nervous system disorders, but the team plans to refine the system further. Future versions are expected to deliver more precise predictions and integrate additional biological data, sharpening its usefulness for both medicine and pharmaceutical research.

Here’s why this matters more than it sounds

• Speeds up genetic diagnoses for patients
• Reduces guesswork in complex and rare diseases
• Helps doctors prioritise the most relevant mutations
• Guides drug developers towards better targets
• Pushes personalised medicine closer to the clinicAlso read: Doctor says these 3 medicines can save a heart attack patient

Therefore, by linking specific genetic changes to the diseases they are most likely to cause, V2P offers a more direct route from DNA sequence to treatment strategy. After decades of genetic promises and partial answers, this AI suggests a future where your genome doesn’t just whisper risks, but speaks clearly enough for doctors to act.