N/A N=400 Diagnostic

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

Pediatric: Genetic Syndrome

Bottom Line

View on ClinicalTrials.gov: NCT03890679 ↗

Enrolled (actual)

400

Serious AEs

0.0%

Results posted

Aug 2025

Primary outcome: Primary: The Number of Subjects With a Confirmed Genetic Disorder Detected by NewbornDx — 109 Participants

Study Design & Population

Study type: Interventional
Phase: N/A
Interventions: rapid whole genomic sequencing (rWGS) (Diagnostic_test)
Age: Pediatric · 0+ yrs
Sex: All
Sponsor: Tufts Medical Center
Primary completion: Nov 2021

Outcome Measures

Outcome	Result	p-value
PRIMARY The Number of Subjects With a Confirmed Genetic Disorder Detected by NewbornDx	109	—
PRIMARY The Number of Subjects With a Confirmed Genetic Disorder Detected by rWGS	195	—
PRIMARY Time in Hours to a Positive Result by NewbornDx	100.3	—
PRIMARY Time in Hours to a Positive Result by rWGS	146.6	—
PRIMARY Perception of the Clinical Utility of Genomic Sequencing	150; 152; 60; 31; 5	—
PRIMARY Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care	76; 44; 23; 12; 7; 3	—
SECONDARY One Year Cost-effectiveness of Entire Cohort.	388,572	—

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).

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)

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT03890679). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.