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.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Genomic Uniformed-Screening Against Rare Disease In All Newborns
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Wendy K. Chung, MD, PhD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital
Who to contact
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Do you actually qualify for this trial?
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Inclusion
What this trial measures
- 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.