Trial Outcomes & Findings for Perinatal Precision Medicine (NCT NCT03211039)
NCT ID: NCT03211039
Last Updated: 2024-03-01
Results Overview
Perceived utility/benefit of sequencing based on "Clinician Assessment" questionnaire completed by patient's providers. Question: Was the test clinically useful? Response was measured on a 5-point Likert scale (very useful=5, useful=4, neutral=3, not very useful=2, not useful at all=1.
Recruitment status
ACTIVE_NOT_RECRUITING
Study phase
NA
Target enrollment
213 participants
Primary outcome timeframe
Within one week of the return of results
Results posted on
2024-03-01
Participant Flow
Recruitment of acutely ill infants (age less than 1 year) during admission to the neonatal, pediatric or intensive care unit at Rady Children's Hospital, San Diego
Infants considered to be too severely ill at enrollment to be randomized to rapid diagnostic whole genome sequencing or rapid diagnostic whole exome sequencing were excluded from randomization and received ultra-rapid diagnostic whole genome sequencing with the fastest possible time to diagnosis.
Participant milestones
| Measure |
Diagnostic Rapid Whole Genome Sequencing
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Overall Study
STARTED
|
94
|
95
|
24
|
|
Overall Study
COMPLETED
|
94
|
95
|
24
|
|
Overall Study
NOT COMPLETED
|
0
|
0
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
Perinatal Precision Medicine
Baseline characteristics by cohort
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=94 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=95 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=24 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
Total
n=213 Participants
Total of all reporting groups
|
|---|---|---|---|---|
|
Age, Continuous
|
4 Days
n=5 Participants
|
5 Days
n=7 Participants
|
7.5 Days
n=5 Participants
|
5 Days
n=4 Participants
|
|
Sex: Female, Male
Female
|
33 Participants
n=5 Participants
|
43 Participants
n=7 Participants
|
8 Participants
n=5 Participants
|
84 Participants
n=4 Participants
|
|
Sex: Female, Male
Male
|
61 Participants
n=5 Participants
|
52 Participants
n=7 Participants
|
16 Participants
n=5 Participants
|
129 Participants
n=4 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
36 Participants
n=5 Participants
|
42 Participants
n=7 Participants
|
10 Participants
n=5 Participants
|
88 Participants
n=4 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
57 Participants
n=5 Participants
|
52 Participants
n=7 Participants
|
14 Participants
n=5 Participants
|
123 Participants
n=4 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
1 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
2 Participants
n=4 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
1 Participants
n=5 Participants
|
1 Participants
n=4 Participants
|
|
Race (NIH/OMB)
Asian
|
6 Participants
n=5 Participants
|
2 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
8 Participants
n=4 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
2 Participants
n=5 Participants
|
5 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
7 Participants
n=4 Participants
|
|
Race (NIH/OMB)
Black or African American
|
3 Participants
n=5 Participants
|
2 Participants
n=7 Participants
|
1 Participants
n=5 Participants
|
6 Participants
n=4 Participants
|
|
Race (NIH/OMB)
White
|
58 Participants
n=5 Participants
|
55 Participants
n=7 Participants
|
17 Participants
n=5 Participants
|
130 Participants
n=4 Participants
|
|
Race (NIH/OMB)
More than one race
|
20 Participants
n=5 Participants
|
27 Participants
n=7 Participants
|
3 Participants
n=5 Participants
|
50 Participants
n=4 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
5 Participants
n=5 Participants
|
4 Participants
n=7 Participants
|
2 Participants
n=5 Participants
|
11 Participants
n=4 Participants
|
|
Age at symptom onset
|
0.4 Days
n=5 Participants
|
0.6 Days
n=7 Participants
|
3.1 Days
n=5 Participants
|
1 Days
n=4 Participants
|
PRIMARY outcome
Timeframe: Within one week of the return of resultsPopulation: Test perceived to be useful or very useful in "Clinician Assessment" questionnaire completed by patient's providers.
Perceived utility/benefit of sequencing based on "Clinician Assessment" questionnaire completed by patient's providers. Question: Was the test clinically useful? Response was measured on a 5-point Likert scale (very useful=5, useful=4, neutral=3, not very useful=2, not useful at all=1.
Outcome measures
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=93 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=90 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=24 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Subject's Main Provider's Perceived Clinical Utility of Genomic Sequencing
|
66 Participants
|
66 Participants
|
24 Participants
|
PRIMARY outcome
Timeframe: Within 1 week of return of resultsTest results led to Change in clinical management (select all that apply): * Surgical intervention added * Surgical intervention removed * Surgical intervention changed * Medication added * Medication removed * Medication changed * Diet changed * New specialty service sought * Prior specialty service no longer required * New imaging sought * Prior imaging cancelled * New test ordered * Prior testing cancelled * Screening for additional comorbidities added * Screening for additional comorbidities removed * Palliative care initiated * Palliative care withdrawn * Other: (text box for written description)
Outcome measures
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=93 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=90 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=24 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Test Results Led to Change in Patient Management
|
23 Participants
|
19 Participants
|
15 Participants
|
PRIMARY outcome
Timeframe: 1 yearPrimary physician perception of change in outcome
Outcome measures
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=93 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=90 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=24 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Test Led to Changes in Management That Altered Patient Outcome
|
9 Participants
|
17 Participants
|
6 Participants
|
SECONDARY outcome
Timeframe: Within approximately 30 days of enrollmentWGS and WES are two clinical diagnostic test modalities. Results of testing were placed in the electronic medical record. Results either provided a molecular diagnosis that explained the patient's condition or did not. The diagnostic proportion is the number of patients who received a molecular diagnosis by the test modality divided by the total number of patients who were tested by that modality.
Outcome measures
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=94 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=95 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=24 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Diagnostic Proportion for Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES)
|
18 Participants
|
19 Participants
|
11 Participants
|
SECONDARY outcome
Timeframe: Within 7 days of sample receiptTime to result.
Outcome measures
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=94 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=95 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=24 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Result Within 7 Days of Sample Receipt
|
10 Participants
|
4 Participants
|
17 Participants
|
SECONDARY outcome
Timeframe: Within one week of the return of results and approximately one year after enrollmentParental perception that test was useful
Outcome measures
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=70 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=71 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=20 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Parental Perceived Usefulness of Test
|
54 Participants
|
55 Participants
|
15 Participants
|
SECONDARY outcome
Timeframe: Within one week of the return of results and approximately one year after enrollmentParental perception that the test benefitted their infant
Outcome measures
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=70 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=71 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=20 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Parental Perception of Test Benefit for Their Infant
|
58 Participants
|
50 Participants
|
13 Participants
|
SECONDARY outcome
Timeframe: Within one week of the return of results and approximately one year after enrollmentMarkers of harm in genetic diagnosis as evidenced by Brehaut's Decisional Regret scale. Scale 0-100. Higher scores indicate higher regret.
Outcome measures
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=70 Participants
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=71 Participants
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=20 Participants
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Parental Decisional Regret With Sequencing
|
5 score on a scale
Interval 0.0 to 60.0
|
0 score on a scale
Interval 0.0 to 100.0
|
15 score on a scale
Interval 0.0 to 30.0
|
Adverse Events
Diagnostic Rapid Whole Genome Sequencing
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
Diagnostic Rapid Whole Exome Sequencing
Serious events: 0 serious events
Other events: 3 other events
Deaths: 3 deaths
Ultra-rapid Diagnostic Whole Genome Sequencing
Serious events: 0 serious events
Other events: 0 other events
Deaths: 5 deaths
Serious adverse events
Adverse event data not reported
Other adverse events
| Measure |
Diagnostic Rapid Whole Genome Sequencing
n=94 participants at risk
Genetic test that looks at all coding and non-coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Diagnostic Rapid Whole Exome Sequencing
n=95 participants at risk
Genetic test that looks at all coding areas of the genome. Genomic sequencing and molecular diagnostic results.
|
Ultra-rapid Diagnostic Whole Genome Sequencing
n=24 participants at risk
Infants considered to be too severely ill at enrollment to be randomized were excluded from randomization and received urWGS, with the fastest possible time to diagnosis.
|
|---|---|---|---|
|
Social circumstances
Parental perception that test was harmful to infant
|
0.00%
0/94 • 1 year for parental perception of harm; 28 days for mortality
Adverse event measured was parental perception that test was harmful to infant. 28-day mortality was a demographic measure of the severity of illness of patients. 28-day mortality not due to testing but rather to underlying disease.
|
3.2%
3/95 • 1 year for parental perception of harm; 28 days for mortality
Adverse event measured was parental perception that test was harmful to infant. 28-day mortality was a demographic measure of the severity of illness of patients. 28-day mortality not due to testing but rather to underlying disease.
|
0.00%
0/24 • 1 year for parental perception of harm; 28 days for mortality
Adverse event measured was parental perception that test was harmful to infant. 28-day mortality was a demographic measure of the severity of illness of patients. 28-day mortality not due to testing but rather to underlying disease.
|
Additional Information
Dr. Stephen F. Kingsmore
Rady Children's Institute for Genomic Medicine
Phone: 816 854 0882
Email: [email protected]
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place