Trial Outcomes & Findings for Genomic Medicine for Ill Neonates and Infants (The GEMINI Study) (NCT NCT03890679)

NCT ID: NCT03890679

Last Updated: 2025-08-06

Results Overview

If NewbornDx diagnoses a genetic disorder

Recruitment status

COMPLETED

Study phase

Target enrollment

400 participants

Primary outcome timeframe

1-2 weeks

Results posted on

2025-08-06

Participant Flow

Participant milestones

Participant milestones
Measure	Patients Receiving Genetic Testing for the Study The study included 400 probands, 388 mothers, and 316 fathers who participated. They all received both rapid whole genomic sequencing (rWGS) and the NewbornDx panel which are genomic sequencing platforms
Overall Study STARTED	400
Overall Study COMPLETED	400
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

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

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Patients Receiving Genetic Testing in the Study n=400 Participants The study included 400 probands, 388 mothers, and 316 fathers who participated rapid whole genomic sequencing (rWGS): rWGS and NewbornDx are genomic sequencing platforms
Age, Categorical <=18 years	400 Participants n=93 Participants
Age, Categorical Between 18 and 65 years	0 Participants n=93 Participants
Age, Categorical >=65 years	0 Participants n=93 Participants
Age, Continuous	18 days n=93 Participants
Sex: Female, Male Female	169 Participants n=93 Participants
Sex: Female, Male Male	231 Participants n=93 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	114 Participants n=93 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	286 Participants n=93 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=93 Participants
Race (NIH/OMB) American Indian or Alaska Native	4 Participants n=93 Participants
Race (NIH/OMB) Asian	22 Participants n=93 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	7 Participants n=93 Participants
Race (NIH/OMB) Black or African American	43 Participants n=93 Participants
Race (NIH/OMB) White	208 Participants n=93 Participants
Race (NIH/OMB) More than one race	63 Participants n=93 Participants
Race (NIH/OMB) Unknown or Not Reported	53 Participants n=93 Participants
Region of Enrollment United States	400 participants n=93 Participants
Diagnostic yield	49 percentage n=93 Participants

PRIMARY outcome

Timeframe: 1-2 weeks

Population: Pre-specified in the protocol to assess and collect as a single group across both sequence tests.

If NewbornDx diagnoses a genetic disorder

Outcome measures

Outcome measures
Measure	the Number of Subjects With a Confirmed Genetic Disorder by Newborn Dx n=400 Participants 109 infants had a confirmed genetic disorder
The Number of Subjects With a Confirmed Genetic Disorder Detected by NewbornDx	109 Participants

PRIMARY outcome

Timeframe: 1-2 weeks

Population: Pre-specified in the protocol to assess and collect as a single group across both sequence tests.

If rWGS diagnoses a genetic disorder

Outcome measures

Outcome measures
Measure	the Number of Subjects With a Confirmed Genetic Disorder by Newborn Dx n=400 Participants 109 infants had a confirmed genetic disorder
The Number of Subjects With a Confirmed Genetic Disorder Detected by rWGS	195 Participants

PRIMARY outcome

Timeframe: 1-2 weeks

Population: Pre-specified in the protocol to assess and collect as a single group across both sequence tests.

Duration of time (hours) to determine diagnosis by NewbornDx

Outcome measures

Outcome measures
Measure	the Number of Subjects With a Confirmed Genetic Disorder by Newborn Dx n=400 Participants 109 infants had a confirmed genetic disorder
Time in Hours to a Positive Result by NewbornDx	100.3 hours Interval 56.9 to 121.7

PRIMARY outcome

Timeframe: 1-2 weeks

Population: Pre-specified in the protocol to assess and collect as a single group across both sequence tests.

Duration of time (hours) to determine diagnosis by rWGS

Outcome measures

Outcome measures
Measure	the Number of Subjects With a Confirmed Genetic Disorder by Newborn Dx n=400 Participants 109 infants had a confirmed genetic disorder
Time in Hours to a Positive Result by rWGS	146.6 hours Interval 79.3 to 237.8

PRIMARY outcome

Timeframe: 1 week

Population: Physicians of record rated the overall utility of the genomic-sequencing process, based on collective results from both platforms using a 5-point Likert Scale (1, \[not useful at all\], to 5 \[very useful\]). Pre-specified in the protocol to assess and collect as a single group across both sequence tests.

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.

Outcome measures

Outcome measures
Measure	the Number of Subjects With a Confirmed Genetic Disorder by Newborn Dx n=398 Participants 109 infants had a confirmed genetic disorder
Perception of the Clinical Utility of Genomic Sequencing Very Useful	150 Participants
Perception of the Clinical Utility of Genomic Sequencing Useful	152 Participants
Perception of the Clinical Utility of Genomic Sequencing Neutral	60 Participants
Perception of the Clinical Utility of Genomic Sequencing Not very useful	31 Participants
Perception of the Clinical Utility of Genomic Sequencing Not useful at all	5 Participants

PRIMARY outcome

Timeframe: 1 week

Population: Changes were determined via follow-up with the physician of record (intensivist or geneticist). Pre-specified in the protocol to assess and collect as a single group across both sequence tests.

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.

Outcome measures

Outcome measures
Measure	the Number of Subjects With a Confirmed Genetic Disorder by Newborn Dx n=400 Participants 109 infants had a confirmed genetic disorder
Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care Any changes in care	76 Participants
Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care Medication	44 Participants
Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care Surgery	23 Participants
Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care Withdrawal of life-sustaining support	12 Participants
Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care Diet	7 Participants
Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care Change in goal of care from comfort to cure	3 Participants
Clinical Utility of Genomic Sequencing as Assessed by Changes in Clinical Care Management or Goals of Care No changes in care	235 Participants

SECONDARY outcome

Timeframe: From enrollment to 1 year corrected gestational age

Population: A decision model simulated and compared total costs of rWGS from enrollment through 1 year corrected gestational age (study period) for: 1) early rGS, and 2) early NewbornDx followed by later rGS for undiagnosed infants. Model inputs included GEMINI data and 2023 Medicare rates; the primary outcome was total costs over the study period. Pre-specified in the protocol to assess and collect as a single group across both sequence tests.

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.

Outcome measures

Outcome measures
Measure	the Number of Subjects With a Confirmed Genetic Disorder by Newborn Dx n=400 Participants 109 infants had a confirmed genetic disorder
One Year Cost-effectiveness of Entire Cohort.	388,572 US dollars Standard Deviation 31,271

Adverse Events

Full Cohort

Serious events: 0 serious events

Other events: 12 other events

Deaths: 12 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure	Full Cohort n=400 participants at risk Patients that underwent genetic testing with genomic sequencing and targeted neonatal gene sequencing test
Investigations Genomic testing results reporting	3.0% 12/400 • Number of events 12 • 1 year

Additional Information

Dr. Jonathan Davis

Tufts Medical Center

Phone: 6176365322

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place