South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South
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| ClinicalTrials.gov Identifier: NCT03842995 |
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Recruitment Status :
Recruiting
First Posted : February 15, 2019
Last Update Posted : November 30, 2023
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| Condition or disease | Intervention/treatment | Phase |
|---|---|---|
| Whole Genome Sequencing | Behavioral: Genetic Counselor Behavioral: Trained Healthcare Provider | Not Applicable |
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 (Clinical Trial) |
| Estimated Enrollment : | 800 participants |
| Allocation: | Randomized |
| Intervention Model: | Parallel Assignment |
| Masking: | None (Open Label) |
| Primary Purpose: | Health Services Research |
| Official Title: | South-seq: DNA Sequencing for Newborn Nurseries in the South |
| Actual Study Start Date : | April 15, 2019 |
| Actual Primary Completion Date : | May 1, 2022 |
| Estimated Study Completion Date : | April 30, 2024 |
| Arm | Intervention/treatment |
|---|---|
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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
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Behavioral: Genetic Counselor
Standard of Care |
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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
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Behavioral: Trained Healthcare Provider
Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results |
- 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.
- 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.
- 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.
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| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03842995
| Contact: Jeffrey Foster, MPH | 205-996-6086 | pjfoster@uabmc.edu | |
| Contact: Joshua Melnick | 205-975-0583 | jmelnick@uabmc.edu |
| United States, Alabama | |
| University of Alabama at Birmingham/Children's of Alabama | Recruiting |
| Birmingham, Alabama, United States, 35294 | |
| Contact: Bruce Korf, MD, PhD | |
| United States, Louisiana | |
| Woman's Hospital | Recruiting |
| Baton Rouge, Louisiana, United States, 70895 | |
| Contact: Steven Spedale, MD, FAAP | |
| United States, Mississippi | |
| University of Mississippi Medical Center | Recruiting |
| Jackson, Mississippi, United States, 39216 | |
| Contact: Renate Savich, MD, FAAP | |
| Study Director: | Maria Danila, MD, MSc,MSPH | University of Alabama at Birmingham |
| Responsible Party: | Maria Danila, MD, MSc, MSPH, Principle Investigator, University of Alabama at Birmingham |
| ClinicalTrials.gov Identifier: | NCT03842995 |
| Other Study ID Numbers: |
IRB-300000328 |
| First Posted: | February 15, 2019 Key Record Dates |
| Last Update Posted: | November 30, 2023 |
| Last Verified: | November 2023 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Genetic Counseling NICU |