Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)

Overview

The Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) is a research study aimed at comparing the clinical and economic utility of performing rapid whole genomic sequencing versus a targeted genomic sequencing panel on neonates and infants suspected of having a genetic disorder. This study is funded by the National Institutes of Health. This multicenter, prospective clinical trial will enroll 400 subjects at the Floating Hospital for Children at Tufts Medical Center (Boston, MA), Cincinnati Children's Hospital Medical Center (Cincinnati, OH), Mount Sinai Kravis Children's Hospital (New York, NY), North Carolina Children's Hospital (Chapel Hill, NC), Children's Hospital of Pittsburgh (Pittsburgh, PA), and Rady Children's Hospital (San Diego, CA).

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Diagnostic
    • Masking: None (Open Label)
  • Study Primary Completion Date: April 1, 2023

Detailed Description

This multicenter, prospective clinical trial will examine the diagnostic yield and clinical utility of NewbornDx, a targeted genomic sequencing panel for use in the neonate, and rapid whole genomic sequencing (rWGS) testing in high-risk infants with signs/symptoms consistent with a possible genetic disorder. Infants will undergo NewbornDx and rWGS (proband) testing. The biological parent(s), when available, will undergo NewbornDx testing at the same time as the infant. For rWGS,the infant will undergo testing first. If a specific diagnosis that is consistent with the phenotype is not made with rWGS proband analysis alone, the parent(s) will undergo rWGS. The study will also evaluate the cost effectiveness of each test as well as standard of care (SOC) testing. A retrospective chart review of infants with suspected genetic disorders will be done to understand 1-year cost and health outcomes that would have been incurred in the absence of the advanced testing. The resulting data from the trial will be used in the economic evaluation comparing NewbornDx, rWGS, and SOC over a 1-year period and used as basis to simulate the lifetime cost-effectiveness of these testing strategies. A web-based clinical reference database to provide references, clinical management guidelines, opportunities for clinical trial participation, and support groups for each condition will be developed with separate interfaces for the parent/guardian(s) and medical provider. The clinical reference database will be qualitatively assessed by a survey of medical providers.

Interventions

  • Diagnostic Test: rapid whole genomic sequencing (rWGS)
    • rWGS and NewbornDx are genomic sequencing platforms

Clinical Trial Outcome Measures

Primary Measures

  • The number of subjects with a confirmed genetic disorder detected by NewbornDx
    • Time Frame: 1-2 weeks
    • If NewbornDx diagnoses a genetic disorder
  • The number of subjects with a confirmed genetic disorder detected by rWGS
    • Time Frame: 1-2 weeks
    • If rWGS diagnoses a genetic disorder
  • Time in hours to a positive result by NewbornDx
    • Time Frame: 1-2 weeks
    • Duration of time (hours) to determine diagnosis by NewbornDx
  • Time in hours to a positive result by rWGS
    • Time Frame: 1-2 weeks
    • Duration of time (hours) to determine diagnosis by rWGS
  • Perception of the clinical utility of genomic sequencing
    • Time Frame: 1 week
    • The Clinician Assessment of Clinical Utility assessed by physician survey using units on a likert scale with 1 meaning not useful at all and 5 meaning very useful
  • Clinical utility of genomic sequencing as assessed by changes in clinical care management
    • Time Frame: 1 week
    • The Clinician Assessment of Clinical Utility assessed by physician survey selecting the specific types of 35 possible management changes (i.e. surgical intervention implemented, medication changed, etc.)

Secondary Measures

  • One year cost-effectiveness of standard of care (SOC), NewbornDx and rWGS testing
    • Time Frame: 5 years
    • All three care platforms will be assessed for their cost-effectiveness based on Quality-Adjusted-Life Year. Qualities are assessed on a scale ranging from 0 (deceased) to 1 (perfect health).
  • Lifetime cost-effectiveness of SOC, NewbornDx and rWGS testing
    • Time Frame: 5 years
    • All three care platforms will be assessed for their cost-effectiveness based on Quality-Adjusted-Life Year. Qualities are assessed on a scale ranging from 0 (deceased) to 1 (perfect health).
  • User satisfaction with the clinical reference database providing physician-specific information about treatments, resources and ongoing clinical trials regarding the genetic disorder diagnosed: likert scale
    • Time Frame: 5 years
    • The Clinician Satisfaction with Return of Genomic Testing Information survey assessed by physicians using units on a likert scale with 1 meaning not useful at all and 5 meaning very useful

Participating in This Clinical Trial

Inclusion Criteria

  • Documented informed consent from the parent/guardian – Signs/symptoms consistent with a possible genetic disorder – Admitted to a hospital participating in this study at the time of enrollment – Less than one year corrected gestational age Exclusion Criteria:

  • A known genetic diagnosis (e.g. prenatal testing) – Major congenital anomaly associated with a chromosomal anomaly detected on prenatal testing – Presence of documented congenital infection – Infants considered non-viable due to prematurity (< 23 0/7 weeks GA)

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: 1 Year

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Tufts Medical Center
  • Collaborator
    • Rady Children’s Hospital, San Diego
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Jill L Maron, MD, MPH, Principal Investigator, Floating Hospital for Children at Tufts Medical Center
    • Jonathan M Davis, MD, Principal Investigator, Floating Hospital for Children at Tufts Medical Center
  • Overall Contact(s)
    • Anne Kurfiss, MPH, 617-636-7134, akurfiss@tuftsmedicalcenter.org

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