Genomic screening for rare diseases in newborns

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to explore the use of genomic sequencing technology to expand the range of conditions screened in newborns beyond the standard newborn screening panel. Families will have the option to participate in additional screenings for conditions that may have effective treatments available or for which early intervention could improve outcomes. The study emphasizes equity in healthcare by ensuring all newborns have access to potentially life-saving information. Collaboration among parents, hospitals, and health departments is essential for the successful implementation of this expanded screening approach.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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

Where it's running

• Columbia University Irving Medical Center/NYP
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: Wendy K. Chung, MD, PhD — Boston Children's Hospital
• Study coordinator: Anah Hetzler
• Email: ak3578@cumc.columbia.edu
• Phone: 212-305-5508

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.