Newborn screening for genetic diseases using genome sequencing

An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

This study is testing a new way to screen newborns for genetic diseases using advanced DNA testing to see if it can find more conditions than the usual methods.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 10000 (estimated)
• Ages: 1 Day to 28 Days
• Sex: All
• Sponsor: Rady Pediatric Genomics & Systems Medicine Institute (Academic / other)
• Locations: 1 site (San Diego, California)
• Trial ID: NCT06306521 on ClinicalTrials.gov

What this trial studies

This clinical trial aims to evaluate a new newborn screening method called BeginNGS, which utilizes whole genome sequencing to identify hundreds of genetic diseases. Parents will provide consent for their newborns to participate in the study, which will compare the effectiveness, acceptability, and cost of BeginNGS against traditional state newborn screening methods. Newborns enrolled in the trial will undergo blood sampling for both BeginNGS and standard screening to assess the utility of this innovative approach. The study seeks to address the limitations of current screening practices by potentially expanding the number of detectable genetic disorders.

Who should consider this trial

Good fit: Ideal candidates for this study are neonates under 28 days old whose parents have identified a primary care provider.

Not a fit: Patients who may not benefit include those whose parents cannot provide consent or who are not expected to survive the neonatal period.

Why it matters

Potential benefit: If successful, this approach could lead to earlier diagnosis and treatment of a wider range of genetic diseases in newborns, improving health outcomes.

How similar studies have performed: Other studies have shown promise in using genome sequencing for genetic screening, but this specific adaptive approach is relatively novel.

Eligibility criteria

Inclusion Criteria:

1. Neonates (\<28 days old) at enrollment sites.
2. Parents must have identified a primary care provider (or group).

Exclusion Criteria:

1. Neonates whose mother is less than 18 years of age.
2. Neonates who are wards of the state.
3. Neonates whose parent/legal guardian is unable to provide consent.
4. Parents with a home address outside the US or jurisdiction of the enrollment sites.
5. Neonates or fetuses who are ill and in whom enrollment or sampling is anticipated to interfere with healthcare provision at delivery. For example, fetuses or neonates who are likely to require transfer to a higher level of care, such as to a Level IV NICU upon delivery.
6. Neonates who are under consideration for a rapid diagnostic genome sequence or other diagnostic genetic testing.
7. Neonates who are not expected to survive the neonatal period.

Where this trial is running

San Diego, California

• Rady Children's Hospital San Diego — San Diego, California, United States (Recruiting)

Study contacts

• Principal investigator: Stephen Kingsmore, MD DSc — Rady Children's Institute for Genomic Medicine
• Study coordinator: Lauren Olsen, MSN

Conditions Genetic Disease; newborn screening