Can a quick genetic test save critically ill newborns?

NCT ID NCT04848090

ENROLLING_BY_INVITATION Diagnosis Sponsor: Jerry Vockley, MD, PhD Source: ClinicalTrials.gov ↗

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study looks at whether whole genome sequencing can help doctors diagnose genetic disorders faster in newborns admitted to intensive care. Researchers will compare the time to diagnosis and care costs for 400 infants who receive this advanced genetic test versus standard testing. The goal is to see if quicker answers lead to better medical decisions and outcomes.

What this could mean

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

Active substance: whole genome sequencing (a detailed genetic test)
What this could lead to: If successful, this could show that rapid genetic testing helps doctors diagnose seriously ill newborns faster and improve their care.
What could go wrong: This is an observational study, not a treatment trial. It may not prove that faster diagnosis leads to better outcomes, and results may not apply to all hospitals.

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.

disease hereditary disease

As listed by the trial registrant

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

GENETIC DISEASE INFANT, NEWBORN, DISEASE

Contacts and locations

Locations

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

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