CompletedNot Applicable

South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South

United States477 participantsStarted 2019-04-15

Plain-language summary

2,000 infants with signs suggestive of a genetic disorder being treated at a neonatal intensive care unit (NICU) in which African-American and rural populations are highly represented will be enrolled. Whole genome sequencing (WGS) will be used to identify pathogenic variation in DNA from these infants. Stakeholders, including parents, clinicians, and community leaders, will be engaged to develop culturally adapted educational materials and to equip non-genetics providers to return WGS results. Parents will be provided with these materials through a web portal, the Genome Gateway, and will be placed into one of two arms of a randomized trial to compare the effectiveness technology-assisted WGS result delivery by non-genetics providers relative to result delivery from genetic counselors.

Who can participate

SexALL

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Inclusion Criteria: * Parents/caregiver/guardian of a newborn (proband) who meets the inclusion criteria in Specific Aim 1 * Parent or caregiver/guardian is willing to participate and answer surveys Exclusion Criteria: * Proband has secondary findings from WGS * Parent or caregiver is not available to participate and answer surveys * Parent or caregiver requires language interpreter services/translated materials

What they're measuring

Evaluate Parental Empowerment Using the Genetic Counseling Outcome Scale (GCOS)

Timeframe: 3 months post specimen collection

Trial details

NCT IDNCT03842995

SponsorUniversity of Alabama at Birmingham

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2022-05-01

Results submitted2024-05-04

View on ClinicalTrials.gov More Whole Genome Sequencing trials