Genomic Screening for Rare Diseases in Newborns

This study, called "Genomic Uniformed-Screening Against Rare Disease In All Newborns," is looking at how using genome sequencing (a test that looks at all of a baby's genes) can help expand the number of conditions screened for in newborns. Currently, all babies get a routine newborn screening test. This study invites families to have their newborn baby screened for additional genetic conditions beyond the standard screening. You can choose to be part of the study or just have the routine screening. We are looking for newborns admitted to certain hospital nurseries, born after 33 weeks of pregnancy, whose parents speak English, Mandarin, or Spanish. The study aims to see how many families join, how often sequencing is successful, and how many babies screen positive for these additional conditions.

Study design
This is an interventional study planning to enroll 100,000 newborns. It is not specified if it is randomized or blinded.
What's involved
Dried blood spots collected at birth for routine newborn screening will be used for genome sequencing-based screening.
Compensation
Not stated in the trial record.
Follow-up
The study will measure enrollment rates from launch to the end of enrollment (up to 5 years), and sequencing and screen positive rates up to 6 months after enrollment ends.

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NCT05990179

Genomic Uniformed-Screening Against Rare Disease In All Newborns

Recruiting
NAAges 1–1InterventionalScreening
Columbia University
~100,000 participants
Updated 2025-09-19 on ClinicalTrials.gov
What's tested:Genome sequencing-based newborn screening

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Enrollment Rate (percentage)
Measured over From study launch to end of enrollment (up to 5 years)
+3 more outcomes measured
Early Onset Genetic Conditions With Near Complete Penetrance
1 sites across 1 states
New York1
  • Wendy K. Chung, MD, PhD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital

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Eligibility criteria

Inclusion

Newborns admitted to the well-baby nurseries from the recruiting hospitals
Newborns born after 33 weeks of gestation
Newborns whose parents are English, Mandarin, or Spanish speaking
  • Enrollment Rate (percentage)From study launch to end of enrollment (up to 5 years)

    Enrollment rate will be defined as: number of enrolled newborns / number of newborns approached by the research assistant.

  • Successful Sequencing Rate (percentage)Up to 6 months after the end of enrollment

    Successful sequencing rate will be defined as: number of successful sequencing / number of enrolled newborns.

  • Screen Positive Rate (percentage)Up to 6 months after the end of enrollment

    Screen positive rate will be defined as: number of newborns with a positive screening / number of successful sequencing.

  • True Positive Rate (percentage)Up to 6 months after the end of enrollment

    True positive rate will be defined as: number of confirmed diagnosis / number of screen positive.