N/A
Completed N=477
South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South
Whole Genome Sequencing
Source: ClinicalTrials.gov NCT03842995 ↗
Enrolled (actual)
477
Serious AEs
—
Results posted
Dec 2024
Primary outcomePrimary: Evaluate Parental Empowerment Using the Genetic Counseling Outcome Scale (GCOS) — 117.94; 117.19 score on a scale
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.
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 | — |
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
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. Informational only — not medical advice.