NCT03842995

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

Completed NA Results posted Last updated 13 December 2024

What this trial tests

NA trial testing Genetic Counselor in Whole Genome Sequencing in 477 participants. Completed in 31 December 2023.

Timeline

15 April 2019

Primary endpoint
1 May 2022

31 December 2023

Quick facts

Lead sponsor	University of Alabama at Birmingham
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	randomized
Design	parallel
Masking	none
Primary purpose	health services research
Enrollment	477
Start date	15 April 2019
Primary completion	1 May 2022
Estimated completion	31 December 2023
Sites	3 locations across United States

Drugs / interventions tested

• Genetic Counselor
• Trained Healthcare Provider

Conditions studied

• Whole Genome Sequencing — all drugs for Whole Genome Sequencing →

Sponsor

University of Alabama at Birmingham

Who can join

Eligibility, any sex, with Whole Genome Sequencing. Patients with the condition only — healthy volunteers not accepted.

Results — posted to ClinicalTrials.gov

Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.

Evaluate Parental Empowerment Using the Genetic Counseling Outcome Scale (GCOS) Primary · 3 months post specimen collection

Collected after return of whole genome sequencing results using the GCOS. The GCOS is a 24-item counseling outcome scale to assess parental empowerment through questions addressing five constructs: Decision control, Cognitive control, Behavioral control, Emotional regulation, and Future orientation. Each of the 24-items is answered with a 7-point Likert-type scale: Strongly disagree (1), Disagree (2), Slightly disagree (3), Neither agree nor disagree (4), slightly agree (5), agree (6), and strongly agree (7). Range of possible scores for those completing all items: 24-168. Higher scores are be

Group	Value	95% CI
Genetic Counselor	117.94	± 13.85
Trained Healthcare Provider	117.19	± 14.86

Evaluate Parental Uncertainties Using the Parental Perceptions of Uncertainties in Genomic Sequencing (PUGS) Secondary · 3 months post specimen collection

Collected after return of whole genome sequencing results using the PUGS. PUGS is an 8-item scale to assess uncertainties within three domains: Clinical, Affective, and Evaluative. Each of the questions is answered on a 5-point Likert-type scale: Very uncertain (1) to very certain (5). Range of possible scores for those completing all items: 8-40. Higher scores represent more certainty.

Group	Value	95% CI
Genetic Counselor	29.11	± 7.31
Trained Healthcare Provider	29.74	± 5.87

Evaluate Personal Utility Using the Parental Personal Utility Scale (PrU) Secondary · 3 months post specimen collection

Collected after return of whole genome sequencing results using the PrU. This measure consists of 17 items answered with a 7-point Likert-type scale: Not at all useful (1), A little useful (2), Somewhat useful (3), Neutral (4), Useful (5), Very useful (6), and Extremely useful (7). Range of possible scores for those completing all items: 17-119. Higher scores are better.

Group	Value	95% CI
Genetic Counselor	78.40	± 20.51
Trained Healthcare Provider	73.93	± 19.86

Sponsor's own description

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.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

1. Genome sequencing as a first-line diagnostic test for hospitalized infants.
   Bowling KM, Thompson ML, Finnila CR, Hiatt SM, et al · · 2022 · cited 45× · PMID 34930662 · DOI 10.1016/j.gim.2021.11.020
2. Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
   Lemke AA, Thompson ML, Gimpel EC, McNamara KC, et al · · 2023 · cited 11× · PMID 37511639 · DOI 10.3390/jpm13071026
3. Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.
   D'Gama AM, Agrawal PB. · · 2023 · cited 5× · PMID 36774516 · DOI 10.1038/s41372-023-01630-7