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Genome Sequencing for Newborns in Intensive Care

This study is looking at how quickly whole genome sequencing (WGS) can help diagnose genetic conditions in newborns in the intensive care unit (ICU). WGS is a test that looks at all of a person's genes. The study will compare how fast WGS can find a diagnosis compared to standard tests. Researchers also want to see if WGS changes how patients are cared for and if it affects the cost of their hospital stay. To join, your baby must be a newborn (up to 1 year old), born after 24 weeks of pregnancy, weigh more than 600 grams, and be in the ICU at UPMC Children's Hospital or Magee Women's Hospital. The study aims to enroll 400 babies.

Study design
This is an observational study involving 400 participants. It compares whole genome sequencing to standard care to see its impact on diagnosis speed and patient outcomes.
What's involved
If your baby is eligible and you consent, a blood sample will be taken for whole genome sequencing. The results will be shared with your care team and you through genetic counseling.
Compensation
Not stated in the trial record.
Follow-up
The study will track confirmed diagnosis, diagnostic rate, and time to diagnosis for up to 4 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04848090

Genome Sequencing in the Intensive Care Unit Population

Enrolling by Invitation
NAUp to 1InterventionalDiagnostic
Jerry Vockley, MD, PhD
~400 participants
Updated 2026-01-09 on ClinicalTrials.gov
What's tested:Neonate WGS Testing

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Confirmed Diagnosis
Measured over Up to 4 years
+6 more outcomes measured

Conditions

Infant, Newborn, Disease
Genetic Disease

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Genetic Disorder

Where it's being run

1 sites across 1 states
Pennsylvania1

Study leadership

  • Gerard Vockley, MD, PhD · PRINCIPAL_INVESTIGATOR · University of Pittsburgh

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Neonates: In order to be approached to participate, a neonate must meet all of the following criteria:
Historical Controls: Individuals who have been evaluated by Medical Genetics within the last 24 months and who meet the criteria for matched controls as defined by propensity score matching.
Historical Control: Has not been seen within the past 24 months and/or does not meet the criteria for matched control as defined by propensity score matching. Part of this matching requires that the historical control be matched to a study participant based on age, thus they will be selected based on all matching criteria and will be excluded if they do not meet the criteria, including age.

Exclusion

Neonates: An individual who meets any of the following criteria will be excluded from participating in this study:
Parents:
Siblings:

What this trial measures

  • Confirmed DiagnosisUp to 4 years

    Categorical Y/N confirmed diagnosis in the neonate participant detected with WGS, compared to results from standard of care (SOC) or as seen in the historical control (HC)

  • Diagnostic RateUp to 4 years

    Diagnostic rate with analysis via WGS, the 1722 neonatal specific gene filter, vs whole exome filter

  • Time to DiagnosisUp to 4 years

    Time to diagnosis in days with WGS as compared to SOC testing or HC

  • Clinical Utility of WGSUp to 4 years

    Clinical utility of WGS (e.g. changes in care management) compared to SOC or HC. Clinical utility is rated by a physician involved with case following the return of results using a Likert scale (1 - Not Useful at all, 2 - Not Very Useful, 3 - Neutral, 4 - Useful, 5 - Very Useful)

  • Care Cost EvaluationUp to 4 years

    Total care cost in dollars in those receiving WGS as compared to HC

  • Length of StayUp to 4 years

    Total length of hospital stay in days in those receiving WGS as compared to HC

  • Need for Medical UtilizationUp to 4 years

    Number of major medical procedures, imaging studies, or consulting services encounters in subjects receiving WGS compared to those in HC