South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South
NCT ID: NCT03842995
Last Updated: 2024-12-13
Study Results
Outcome measurements, participant flow, baseline characteristics, and adverse events have been published for this study.
View full resultsBasic Information
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COMPLETED
NA
477 participants
INTERVENTIONAL
2019-04-15
2023-12-31
Brief Summary
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Detailed Description
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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.
Conditions
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Keywords
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Study Design
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RANDOMIZED
PARALLEL
HEALTH_SERVICES_RESEARCH
NONE
Study Groups
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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
Genetic Counselor
Standard of Care
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
Trained Healthcare Provider
Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results
Interventions
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Genetic Counselor
Standard of Care
Trained Healthcare Provider
Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
* Parent or caregiver is not available to participate and answer surveys
* Parent or caregiver requires language interpreter services/translated materials
ALL
Yes
Sponsors
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University of Mississippi Medical Center
OTHER
HudsonAlpha Institute for Biotechnology
OTHER
Woman's Hospital, Louisiana
OTHER
Children's Hospital New Orleans, LA
OTHER
Norton Children's Hospital
OTHER
University of Louisville
OTHER
University of Alabama at Birmingham
OTHER
Responsible Party
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Maria Danila, MD, MSc, MSPH
Principle Investigator
Principal Investigators
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Maria Danila, MD, MSc,MSPH
Role: STUDY_DIRECTOR
University of Alabama at Birmingham
Locations
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University of Alabama at Birmingham/Children's of Alabama
Birmingham, Alabama, United States
Woman's Hospital
Baton Rouge, Louisiana, United States
University of Mississippi Medical Center
Jackson, Mississippi, United States
Countries
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References
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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.
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.
Provided Documents
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Document Type: Study Protocol, Statistical Analysis Plan, and Informed Consent Form
Other Identifiers
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IRB-300000328
Identifier Type: -
Identifier Source: org_study_id