N/A N=477 Randomized Health Services Research

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

Whole Genome Sequencing

Bottom Line

View on ClinicalTrials.gov: NCT03842995 ↗

Enrolled (actual)

477

Serious AEs

—

Results posted

Dec 2024

Primary outcome: Primary: Evaluate Parental Empowerment Using the Genetic Counseling Outcome Scale (GCOS) — 117.94; 117.19 score on a scale

Study Design & Population

Study type: Interventional
Phase: N/A
Interventions: Genetic Counselor (Behavioral); Trained Healthcare Provider (Behavioral)
Age: Pediatric, Adult, Older Adult
Sex: All
Sponsor: University of Alabama at Birmingham
Primary completion: May 2022

Outcome Measures

Outcome	Result	p-value
PRIMARY Evaluate Parental Empowerment Using the Genetic Counseling Outcome Scale (GCOS)	117.94; 117.19	—
SECONDARY Evaluate Parental Uncertainties Using the Parental Perceptions of Uncertainties in Genomic Sequencing (PUGS)	29.11; 29.74	—
SECONDARY Evaluate Personal Utility Using the Parental Personal Utility Scale (PrU)	78.40; 73.93	—

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.

Eligibility Criteria

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

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT03842995). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.