AI tool aims to unmask genetic diseases in kids faster

NCT ID NCT06744543

First seen Jun 25, 2026 · Last updated Jun 26, 2026 · Updated 2 times

Summary

This study tests a computer program called SIGHT that uses information already in a child's medical records to predict if they might have an undiagnosed genetic disease. Researchers will randomly assign 1,000 children visiting their pediatrician to either have their doctor receive a SIGHT alert or not. The goal is to see if the tool helps doctors order genetic tests sooner and find more diagnoses.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance

SIGHT prediction model (software tool)

What this could lead to

If successful, this tool could help doctors spot children with hidden genetic diseases earlier, leading to faster diagnosis and better care.

What could go wrong

This is a relatively small, early-stage study testing a prediction model, not a treatment. The tool may not work as expected or may not be adopted widely.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

hereditary disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Vanderbilt University Medical

    Nashville, Tennessee, 37232, United States