Newborn screening for genetic diseases using genome sequencing

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 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.

Why it matters

Who can join: the full rules

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 it's running

• 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
• Email: lolsen1@rchsd.org
• Phone: 858-576-1700

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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.