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

NCT03890679 | Completed Results DMC FDA Device

• 1 other identifier: JHUSIRB00000007
• Study Type: interventional
• Target: 400
• Locations: 1 country
• Sites: 6

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).

Conditions

Pediatric: Genetic Syndrome

Outcome Measures

Primary Outcomes (6)

• The Number of Subjects With a Confirmed Genetic Disorder Detected by NewbornDx

  If NewbornDx diagnoses a genetic disorder

  1-2 weeks

• The Number of Subjects With a Confirmed Genetic Disorder Detected by rWGS

  If rWGS diagnoses a genetic disorder

  1-2 weeks

• Time in Hours to a Positive Result by NewbornDx

  Duration of time (hours) to determine diagnosis by NewbornDx

  1-2 weeks

• Time in Hours to a Positive Result by rWGS

  Duration of time (hours) to determine diagnosis by rWGS

  1-2 weeks

• Perception of the Clinical Utility of Genomic Sequencing

  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.

  1 week

• Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care

  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.

  1 week

Secondary Outcomes (1)

• One Year Cost-effectiveness of Entire Cohort.

  From enrollment to 1 year corrected gestational age

Study Arms (1)

Patients receiving genetic testing in the NICU

EXPERIMENTAL

The study included 400 probands, 388 mothers, and 316 fathers who participated

Diagnostic Test: rapid whole genomic sequencing (rWGS)

Interventions

rapid whole genomic sequencing (rWGS) DIAGNOSTIC_TEST

rWGS and NewbornDx are genomic sequencing platforms

Also known as: NewbornDx

Patients receiving genetic testing in the NICU

Eligibility Criteria

• Age: 1 Day - 1 Year
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Tufts Medical Center: lead
• Rady Children's Hospital, San Diego: collaborator
• Children's Hospital Medical Center, Cincinnati: collaborator
• MOUNT SINAI HOSPITAL: collaborator
• University of North Carolina, Chapel Hill: collaborator
• University of Pittsburgh: collaborator

Study Sites (6)

Rady Children's Hospital - San Diego

San Diego, California, 92123, United States

Location

Tufts Medical Center

Boston, Massachusetts, 02111, United States

Location

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, 27599, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, 15213, United States

Location

Related Publications (3)

• Maron JL, Kingsmore S, Gelb BD, Vockley J, Wigby K, Bragg J, Stroustrup A, Poindexter B, Suhrie K, Kim JH, Diacovo T, Powell CM, Trembath A, Guidugli L, Ellsworth KA, Reed D, Kurfiss A, Breeze JL, Trinquart L, Davis JM. Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder. JAMA. 2023 Jul 11;330(2):161-169. doi: 10.1001/jama.2023.9350.

  PMID: 37432431 RESULT

• Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM. Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study. JAMA Pediatr. 2021 May 1;175(5):e205906. doi: 10.1001/jamapediatrics.2020.5906. Epub 2021 May 3.

  PMID: 33587123 RESULT

• Lavelle TA, Maron JL, Kingsmore SF, Lin CH, Zhu Y, Sweigart B, Reed D, Gelb BD, Vockley J, Davis JM. Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation. J Pediatr. 2025 Nov 1;289:114889. doi: 10.1016/j.jpeds.2025.114889. Online ahead of print.

  PMID: 41177396 DERIVED

Results Point of Contact

• Title: Dr. Jonathan Davis
• Organization: Tufts Medical Center

jdavis@tuftsmedicalcenter.org

6176365322

Study Officials

• Jill L Maron, MD, MPH

  Women and Infants Hospital of Rhode Island

  PRINCIPAL INVESTIGATOR

• Jonathan M Davis, MD

  Tufts Medical Center

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Single Group - All participants underwent both rGS and NewbornDx.

Study Record Dates

• First Submitted: March 11, 2019
• First Posted: March 26, 2019
• Study Start: May 24, 2019
• Primary Completion: November 1, 2021
• Study Completion: November 1, 2022
• Last Updated: August 6, 2025
• Results First Posted: August 6, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: Annual data submissions supplemented by specific dataset deposits as manuscripts arising from this work are submitted for publication.
• Access Criteria: Individual level data will be made available through controlled access. Genomic Summary Results will be made available through unrestricted access.

Locations

US (6)