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

November 28, 2023 updated by: Maria Danila, MD, MSc, MSPH, University of Alabama at Birmingham

South-seq: DNA Sequencing for Newborn Nurseries in the South

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Barriers to widespread and routine implementation of WGS-enabled clinical care exist at several levels. Surveys of clinicians indicate discomfort in their understanding of genomics and ability to communicate results to patients, and also concern about the time required to do so. Medical geneticists and genetic counselors are disproportionately concentrated in large academic centers, and their numbers are inadequate to support the number of patients that may benefit from WGS. This limitation will have a disproportionate effect on patients in rural and/or medically underserved areas. For example, all but one of the genetic counselors in Alabama are based in Birmingham or Huntsville (lone exception is in Mobile), which means that the southern 2/3 of the state, including major rural underserved areas, have little to no local access to genetic counseling services.

These barriers are especially apparent in neonatal care. For parents of sick neonates, their first interactions with the healthcare system take place in the NICU. Neonatology training traditionally emphasizes critical care and can neglect communication, with one study reporting that 93% of fellows stated that their training in this area should be improved. There is a particular lack of training in genomic neonatal medicine, with few didactic lectures, role play sessions, simulated experiences, or hands on training in clinically relevant scenarios. When infants are diagnosed with congenital anomalies in utero, prenatal consultation with subspecialists can be confusing for genetic conditions with a spectrum of causes and outcomes, and inconsistent information given by different providers, e.g., the neonatologist and the pediatric surgeon.

A central premise underlying the proposal is that non-genetics health care providers, including those outside of academic medical centers, can be empowered to use WGS-testing in their practices. There is ample precedent for implementation of complex technology in primary care: pediatricians, internists, and family practitioners routinely use advanced imaging technologies without a deep understanding of the underlying technology. Bringing WGS-enabled genomic medicine to community health care providers requires, at the least, straightforward criteria to identify patients who may benefit, a user-friendly consent process, clearly worded laboratory reports, easily accessible patient education materials, ready access to support from medical geneticists and genetic counselors, and basic training in how WGS can be applied routinely. The study investigators seek to demonstrate that, if these factors are provided, WGS can be carried out and relevant results returned by newborn medicine providers, and that the patient experience will be at least equal to that achieved with the traditional approach of face-to-face counseling by a geneticist or genetic counselor.

In order to compare technology-assisted WGS result delivery by trained healthcare providers to formal genetic counseling by genetic counselors (standard of care), a series of surveys have been developed and will be completed online using the Genome Gateway platform/website developed for this trial. The survey time points are enrollment (specimen collection from the infant/proband), return of results (ROR) (roughly 2-3 months post-enrollment when WGS results are available), 1-month post-ROR counselling, 4-months post-ROR counselling, and 4.5 months post-ROR counselling.

Study Type

Interventional

Enrollment (Estimated)

800

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35294
        • Recruiting
        • University of Alabama at Birmingham/Children's of Alabama
        • Contact:
          • Bruce Korf, MD, PhD
    • Louisiana
      • Baton Rouge, Louisiana, United States, 70895
        • Recruiting
        • Woman's Hospital
        • Contact:
          • Steven Spedale, MD, FAAP
    • Mississippi
      • Jackson, Mississippi, United States, 39216
        • Recruiting
        • University of Mississippi Medical Center
        • Contact:
          • Renate Savich, MD, FAAP

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Health Services Research
  • Allocation: Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Placebo Comparator: Genetic Counselor
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
Standard of Care
Experimental: Trained Healthcare Provider
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
Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Evaluate parental empowerment using the Genetic Counseling Outcome Scale (GCOS)
Time Frame: From collection of specimen through 3 months
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.
From collection of specimen through 3 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Evaluate parental uncertainties using the Parental Perceptions of Uncertainties in Genomic Sequencing (PUGS)
Time Frame: From collection of specimen through 3 months
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.
From collection of specimen through 3 months
Evaluate personal utility using the Parental Personal Utility Scale (PrU)
Time Frame: From collection of specimen through 3 months
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.
From collection of specimen through 3 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Alabama at Birmingham

Collaborators

University of Louisville
University of Mississippi Medical Center
Woman's Hospital, Louisiana
HudsonAlpha Institute for Biotechnology
Children's Hospital of New Orleans
Norton's Children's Hospital

Investigators

  • Study Director: Maria Danila, MD, MSc,MSPH, University of Alabama at Birmingham

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 15, 2019

Primary Completion (Actual)

May 1, 2022

Study Completion (Estimated)

April 30, 2024

Study Registration Dates

First Submitted

February 13, 2019

First Submitted That Met QC Criteria

February 13, 2019

First Posted (Actual)

February 15, 2019

Study Record Updates

Last Update Posted (Actual)

November 30, 2023

Last Update Submitted That Met QC Criteria

November 28, 2023

Last Verified

November 1, 2023

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • IRB-300000328

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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