Can a simple genetic test improve diagnosis of developmental disorders?
NCT ID NCT02414438
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.
Disclaimer
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the original study
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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.
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.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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QURE Healthcare
San Rafael, California, 94901, United States