Pediatric: Genetic SyndromeGEMININCT03890679
Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
A study testing rapid whole genomic sequencing (rWGS) in people with Pediatric: Genetic Syndrome, run by Tufts Medical Center at 6 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 day to 1 year
- Conditions the study is for
- Pediatric: Genetic Syndrome
- What is being tested?
- rapid whole genomic sequencing (rWGS)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 400 participants
- Where
- 6 sitesUnited States
- Study dates
- 24 May 2019to 1 Nov 2022
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 1 year
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
Who cannot join
- 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)
Trial locations and contacts
6 sites in 1 country.
6 sites in 1 country
United States6 sites
Tufts Medical Center
Boston, Massachusetts, 02111
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, 15213
Rady Children's Hospital - San Diego
San Diego, California, 92123
About this study
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).
Read the 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.
- Conditions
- Pediatric: Genetic Syndrome
- Being tested
- rapid whole genomic sequencing (rWGS)
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
rapid whole genomic sequencing (rWGS)Diagnostic test
Also called NewbornDx
rWGS and NewbornDx are genomic sequencing platforms
| Study group | Role | What they receive |
|---|---|---|
| Patients receiving genetic testing in the NICU | Experimental | The study included 400 probands, 388 mothers, and 316 fathers who participated Receives: Diagnostic Test: rapid whole genomic sequencing (rWGS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
The Number of Subjects With a Confirmed Genetic Disorder Detected by NewbornDx
If NewbornDx diagnoses a genetic disorder
Measured: 1-2 weeks
The Number of Subjects With a Confirmed Genetic Disorder Detected by rWGS
If rWGS diagnoses a genetic disorder
Measured: 1-2 weeks
Time in Hours to a Positive Result by NewbornDx
Duration of time (hours) to determine diagnosis by NewbornDx
Measured: 1-2 weeks
Time in Hours to a Positive Result by rWGS
Duration of time (hours) to determine diagnosis by rWGS
Measured: 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.
Measured: 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.
Measured: 1 week
Secondary outcomes (1)
One Year Cost-effectiveness of Entire Cohort.
Total cost of hospitalization, post-discharge follow-up until infant's 1 year CGA (corrected gestational age). Cost effectiveness of the cohort was measured across both sequence groups as a single group.
Measured: From enrollment to 1 year corrected gestational age
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Mar 2019
- Study start24 May 2019
- Primary completion1 Nov 2021
- Study completion1 Nov 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Pediatric: Genetic SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Single Group - All participants underwent both rGS and NewbornDx.
- Masking
- None (open label)
- Enrolment
- 400 participants (actual)
Sponsor and investigators
- Lead sponsor
- Tufts Medical Center
- Sponsor type
- University, hospital or other
- Collaborators
- Rady Children's Hospital, San Diego, Children's Hospital Medical Center, Cincinnati, MOUNT SINAI HOSPITAL, University of North Carolina, Chapel Hill, University of Pittsburgh
- Responsible party
- Sponsor
- Investigators
- Jill L Maron, MD, MPH, Principal investigator, Women and Infants Hospital of Rhode IslandJonathan M Davis, MD, Principal investigator, Tufts Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03890679
- Sponsor's protocol ID
- JHUSIRB00000007
- Acronym
- GEMINI
- Status last verified
- Jul 2025
- First submitted
- 11 Mar 2019
- Last updated
- 6 Aug 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- Yes: Sequencing data that relates genomic data to phenotype or other biological states will be generated and released in accordance to the NIH GDS Policy. Data, including genome sequences (fastq files), variants (vcf files), and associated HIPAA compliant clinical metadata will be deposited in the Longitudinal Pediatric Data Resource (LPDR; https://www.nbstrn.org/research-tools/longitudinal-pediatric-data-resource). The LPDR, in turn, will deposit data in the NCBI dbGAP. Variants with ACMG recommended pathogenicity assessments will be deposited in ClinVar. Novel disorder gene assertions will be deposited in ClinGen (https://clinicalgenome.org/).
Publications
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.
PubMed 37432431Maron 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.
PubMed 33587123Lavelle 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. 2026 Feb;289:114889. doi: 10.1016/j.jpeds.2025.114889. Epub 2025 Nov 1.
PubMed 41177396
Study at a glance
From the registry record, last updated by the sponsor on 6 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Medicine for Ill Neonates and Infants (The GEMINI Study)
- ClinicalTrials.gov ID
- NCT03890679
- Acronym / sponsor ID
- GEMINI / JHUSIRB00000007
- Conditions
- Pediatric: Genetic Syndrome
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 400 participants (actual)
- Lead sponsor
- Tufts Medical CenterUniversity, hospital or other
- Collaborators
- Rady Children's Hospital, San Diego, Children's Hospital Medical Center, Cincinnati, MOUNT SINAI HOSPITAL, University of North Carolina, Chapel Hill, University of Pittsburgh
- Study start
- 24 May 2019 (actual)
- Primary completion
- 1 Nov 2021 (actual)
- Study completion
- 1 Nov 2022 (actual)
- First posted
- 26 Mar 2019 (actual)
- Results
- Posted 6 Aug 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Single Group - All participants underwent both rGS and NewbornDx.
| Arm | Type | Receives |
|---|---|---|
| Patients receiving genetic testing in the NICU | Experimental | Diagnostic Test: rapid whole genomic sequencing (rWGS)The study included 400 probands, 388 mothers, and 316 fathers who participated |
Who may qualify
- Ages
- 1 day to 1 year
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (4 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| rapid whole genomic sequencing (rWGS)Also: NewbornDxrWGS and NewbornDx are genomic sequencing platforms | Diagnostic test | Patients receiving genetic testing in the NICU |
Primary outcome
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.
1 secondary outcome
One Year Cost-effectiveness of Entire Cohort.
Time frame: From enrollment to 1 year corrected gestational age
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Aug 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Results publication: PubMed 37432431Maron 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.
- Results publication: PubMed 33587123Maron 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.
- Derived from this study: PubMed 41177396Lavelle 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. 2026 Feb;289:114889. doi: 10.1016/j.jpeds.2025.114889. Epub 2025 Nov 1.
- Individual participant dataSharing planned: Yes. Sequencing data that relates genomic data to phenotype or other biological states will be generated and released in accordance to the NIH GDS Policy. Data, including genome sequences (fastq files), variants (vcf files), and associated HIPAA compliant clinical metadata will be deposited in the Longitudinal Pediatric Data Resource (LPDR; https://www.nbstrn.org/research-tools/longitudinal-pediatric-data-resource). The LPDR, in turn, will deposit data in the NCBI dbGAP. Variants with ACMG recommended pathogenicity assessments will be deposited in ClinVar. Novel disorder gene assertions will be deposited in ClinGen (https://clinicalgenome.org/).
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jill L Maron, MD, MPH principal investigator
Women and Infants Hospital of Rhode Island
Jonathan M Davis, MD principal investigator
Tufts Medical Center
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing rapid whole genomic sequencing (rWGS) in people with Pediatric: Genetic Syndrome, run by Tufts Medical Center at 6 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 6 Aug 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The Number of Subjects With a Confirmed Genetic Disorder Detected by NewbornDx (time frame: 1-2 weeks). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03890679, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Aug 2025.