100,000 babies to get DNA screening for hidden genetic diseases
NCT ID NCT05990179
First seen Jun 25, 2026 · Last updated Jun 26, 2026 · Updated 1 time
Summary
This study will use genome sequencing on dried blood spots from 100,000 newborns to screen for rare genetic conditions that are not part of routine newborn screening. Families can choose to learn about treatable conditions or those with treatments in development. The goal is to see if this approach can be effectively added to public health programs to give all babies an equal chance at early diagnosis and care.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- genome sequencing-based newborn screening
- What this could lead to
- If successful, this could expand newborn screening to detect many more rare genetic conditions early, giving babies a healthier start.
- What could go wrong
- This is an early-stage study focused on feasibility, not a treatment. It may not lead to immediate changes in public health screening, and false positives could cause anxiety.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Columbia University Irving Medical Center/NYP
RECRUITINGNew York, New York, 10032, United States