Genomic Screening for Rare Genetic Conditions in Newborns
(GUARDIAN Trial)
Trial Summary
Will I have to stop taking my current medications?
The trial does not specify whether participants need to stop taking their current medications. Since the study involves newborns, it is unlikely that parents need to change their medication routines.
What data supports the effectiveness of the treatment Genome sequencing-based newborn screening?
Research shows that rapid whole-genome sequencing (rWGS) can identify genetic disorders in newborns with high accuracy, detecting 87% of diagnoses previously made by traditional methods and finding additional cases not caught by conventional screening. This approach could potentially prevent symptoms in critically ill children if interventions are started early.12345
Is genomic screening for newborns safe?
Genomic screening for newborns, such as whole genome sequencing, is being explored in several trials and has shown promise in accurately diagnosing genetic conditions early. However, there are ongoing discussions about its safety, ethical, and legal implications, and more evidence is needed to fully understand its benefits and risks.12678
How does genomic newborn screening differ from other treatments for rare genetic conditions in newborns?
Genomic newborn screening is unique because it uses whole genome sequencing to identify almost all genetic disorders in newborns before symptoms appear, allowing for early intervention. This approach is more comprehensive than traditional newborn screening, which typically tests for a limited number of conditions by measuring blood metabolites.178910
What is the purpose of this trial?
The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening. Newborn screening ensures equity and allows all babies to have the same chance at the healthiest life. Families will be invited to have their newborn baby screened for additional conditions beyond what all babies are screened for as part of the newborn screening public health program. Families can choose to be part of the study or choose not to be part of the study and just have the routine newborn screening test. Families will also be able to choose to learn about their baby's risk for conditions that have effective treatments available but are not on the routine newborn screening panel or also learn about conditions for which there is not currently FDA approved medications but for which medications are under development or for which early intervention services or treatment of seizures may improve the child's outcome. Families will be invited to the study shortly after the baby is born and will learn the decision not to participate, and we will interview a subset of parents who agree to be interviewed. Newborns who screen positive will be referred to appropriate providers for care and will be followed through review of electronic medical records and parental follow up via phone, text, postal mail or email.
Research Team
Wendy K. Chung, MD, PhD
Principal Investigator
Boston Children's Hospital
Eligibility Criteria
This trial is for newborns in well-baby nurseries from certain hospitals, born after 33 weeks of gestation. It's open to babies whose parents speak English, Mandarin, or Spanish. The study aims to screen these babies for additional rare genetic conditions beyond the standard public health screenings.Inclusion Criteria
Timeline
Screening
Participants are screened for eligibility to participate in the trial
Enrollment and Genomic Sequencing
Newborns are enrolled in the study and undergo genomic sequencing to screen for additional conditions beyond standard newborn screening.
Follow-up
Participants are monitored for outcomes such as successful sequencing rate and screen positive rate. Follow-up includes review of electronic medical records and parental follow-up via phone, text, postal mail, or email.
Outcome Assessment
Assessment of primary and secondary outcomes, including enrollment rate, successful sequencing rate, screen positive rate, true positive rate, and decision regret scale.
Treatment Details
Interventions
- Genome sequencing-based newborn screening
Genome sequencing-based newborn screening is already approved in United States, China, European Union for the following indications:
- Expanded newborn screening for over 450 genetic conditions
- Detection of monogenic disorders, including 128 diseases
- Not specified, but under consideration for integration into routine newborn screening programs
Find a Clinic Near You
Who Is Running the Clinical Trial?
Columbia University
Lead Sponsor
Illumina, Inc.
Industry Sponsor
GeneDx
Collaborator
New York State Department of Health
Collaborator