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

NCT03842995 | Completed Results DMC

• 2 other identifiers: IRB-300000328U01HG007301
• Study Type: interventional
• Target: 477
• Locations: 1 country
• Sites: 3

Brief 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.

Conditions

Whole Genome Sequencing

Keywords

Genetic Counseling; NICU

Outcome Measures

Primary Outcomes (1)

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

  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 better.

  3 months post specimen collection

Secondary Outcomes (2)

• Evaluate Parental Uncertainties Using the Parental Perceptions of Uncertainties in Genomic Sequencing (PUGS)

  3 months post specimen collection

• Evaluate Personal Utility Using the Parental Personal Utility Scale (PrU)

  3 months post specimen collection

Study Arms (2)

Genetic Counselor

PLACEBO COMPARATOR

Standard of Care. Parents/caregivers of neonates enrolled in SouthSeq will receive counseling on their child's Whole Genome Sequencing (WGS) results from Genetic Counselors

Behavioral: Genetic Counselor

Trained Healthcare Provider

EXPERIMENTAL

Healthcare providers (e.g., neonatologists and neonatology nurse practitioners) will receive training to competently deliver Whole Genome Sequencing results to parents/caregivers of neonates enrolled in SouthSeq

Behavioral: Trained Healthcare Provider

Interventions

Genetic Counselor BEHAVIORAL

Standard of Care

Genetic Counselor

Trained Healthcare Provider BEHAVIORAL

Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results

Trained Healthcare Provider

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Parent or caregiver/guardian is willing to participate and answer surveys

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Alabama at Birmingham: lead
• University of Mississippi Medical Center: collaborator
• HudsonAlpha Institute for Biotechnology: collaborator
• Woman's Hospital, Louisiana: collaborator
• Children's Hospital New Orleans, LA: collaborator
• Norton Children's Hospital: collaborator
• University of Louisville: collaborator

Study Sites (3)

University of Alabama at Birmingham/Children's of Alabama

Birmingham, Alabama, 35294, United States

Location

Woman's Hospital

Baton Rouge, Louisiana, 70895, United States

Location

University of Mississippi Medical Center

Jackson, Mississippi, 39216, United States

Location

Related Publications (2)

• Biesecker BB, Woolford SW, Klein WMP, Brothers KB, Umstead KL, Lewis KL, Biesecker LG, Han PKJ. PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing. Clin Genet. 2017 Aug;92(2):172-179. doi: 10.1111/cge.12949. Epub 2017 Jan 30.

  PMID: 27925165 BACKGROUND

• Costal Tirado A, McDermott AM, Thomas C, Ferrick D, Harris J, Edwards A, McAllister M. Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study. J Genet Couns. 2017 Oct;26(5):1017-1028. doi: 10.1007/s10897-017-0079-6. Epub 2017 Mar 9.

  PMID: 28281044 BACKGROUND

Limitations and Caveats

This clinical trial did not include measures of mortality or adverse events. As safety reporting we counted the number of errors the trained healthcare providers made when delivering the genetic results to the parents.

Results Point of Contact

• Title: Greg Cooper, PhD
• Organization: Hudson Alpha Institute for Biotechnology

gcooper@hudsonalpha.org

2563279490

Study Officials

• Maria Danila, MD, MSc,MSPH

  University of Alabama at Birmingham

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle Investigator

Study Record Dates

• First Submitted: February 13, 2019
• First Posted: February 15, 2019
• Study Start: April 15, 2019
• Primary Completion: May 1, 2022
• Study Completion: December 31, 2023
• Last Updated: December 13, 2024
• Results First Posted: December 13, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)