Can a simple genetic test improve diagnosis of developmental disorders?

NCT ID NCT02414438

Completed Knowledge-focused Sponsor: Qure Healthcare, LLC Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This completed study looked at whether giving doctors access to genetic tests called FirstStepDx PLUS and NextStepDx PLUS helps them diagnose intellectual disability and developmental delay more accurately and cost-effectively. The study involved 217 pediatric neurologists, developmental pediatricians, and general pediatricians. Doctors were randomly assigned to receive training and test results or not, and their diagnostic decisions were compared using simulated patient cases.

What this could mean

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

Active substance: FirstStepDx PLUS and NextStepDx PLUS genetic tests
What this could lead to: If successful, this study could show that using these genetic tests helps doctors diagnose developmental disorders more accurately and reduce unnecessary healthcare costs.
What could go wrong: This is a small, completed study measuring doctor behavior, not patient outcomes. Results may not apply to all settings or guarantee better patient health.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

intellectual disability learning disability

As listed by the trial registrant

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

DEVELOPMENTAL DELAY INTELLECTUAL DISABILITY

Contacts and locations

Locations

QURE Healthcare

San Rafael, California, 94901, United States

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