Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Pediatric: Genetic Syndrome
- Sponsor
- Tufts Medical Center
- Enrollment
- 400
- Locations
- 6
- Primary Endpoint
- The Number of Subjects With a Confirmed Genetic Disorder Detected by NewbornDx
- Status
- Completed
- Last Updated
- 8 months ago
Overview
Brief Summary
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).
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.
Investigators
Eligibility Criteria
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)
Outcomes
Primary Outcomes
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. The Clinician Assessment of clinical utility was done collectively as a whole for both modes of genomic sequencing.
Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care
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.) The intent was to examine any changes in care resulting from completing either genomic sequencing testing.
Secondary Outcomes
- One Year Cost-effectiveness of Entire Cohort.(From enrollment to 1 year corrected gestational age)