Trial Outcomes & Findings for North Carolina Newborn Exome Sequencing for Universal Screening (NCT NCT02826694)
NCT ID: NCT02826694
Last Updated: 2020-07-08
Results Overview
Analysis of parents' decisions after they complete an on-line decision aid to see if they wish to participate in the study. Options will be yes, no, or undecided.
Recruitment status
COMPLETED
Study phase
NA
Target enrollment
106 participants
Primary outcome timeframe
average of 3-6 months
Results posted on
2020-07-08
Participant Flow
Participant milestones
| Measure |
Well Infant, Whole Exome Sequencing
Healthy infants and their parents enrolled in the study prenatally will participate. After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done. Investigators will analyze results associated with childhood onset, medically actionable conditions.
|
Diagnosed, Whole Exome Sequencing
Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA. In addition to returning results of conditions associated with the child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.
|
|---|---|---|
|
Overall Study
STARTED
|
61
|
45
|
|
Overall Study
Decision Group
|
41
|
30
|
|
Overall Study
Control Group
|
20
|
15
|
|
Overall Study
COMPLETED
|
61
|
45
|
|
Overall Study
NOT COMPLETED
|
0
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
North Carolina Newborn Exome Sequencing for Universal Screening
Baseline characteristics by cohort
| Measure |
Well Infant, Whole Exome Sequencing
n=61 Participants
Healthy infants and their parents enrolled in the study prenatally will participate. After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done. Investigators will analyze genes that are associated with conditions that have childhood onset and are medically actionable.
|
Diagnosed, Whole Exome Sequencing
n=45 Participants
Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA. In addition to returning results of conditions associated with the child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.
|
Total
n=106 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Categorical
<=18 years
|
61 Participants
n=5 Participants
|
45 Participants
n=7 Participants
|
106 Participants
n=5 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Age, Categorical
>=65 years
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Sex: Female, Male
Female
|
29 Participants
n=5 Participants
|
28 Participants
n=7 Participants
|
57 Participants
n=5 Participants
|
|
Sex: Female, Male
Male
|
32 Participants
n=5 Participants
|
17 Participants
n=7 Participants
|
49 Participants
n=5 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
8 Participants
n=5 Participants
|
2 Participants
n=7 Participants
|
10 Participants
n=5 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
51 Participants
n=5 Participants
|
42 Participants
n=7 Participants
|
93 Participants
n=5 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
2 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
3 Participants
n=5 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Asian
|
5 Participants
n=5 Participants
|
4 Participants
n=7 Participants
|
9 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Black or African American
|
9 Participants
n=5 Participants
|
3 Participants
n=7 Participants
|
12 Participants
n=5 Participants
|
|
Race (NIH/OMB)
White
|
44 Participants
n=5 Participants
|
37 Participants
n=7 Participants
|
81 Participants
n=5 Participants
|
|
Race (NIH/OMB)
More than one race
|
0 Participants
n=5 Participants
|
0 Participants
n=7 Participants
|
0 Participants
n=5 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
3 Participants
n=5 Participants
|
1 Participants
n=7 Participants
|
4 Participants
n=5 Participants
|
|
Region of Enrollment
United States
|
61 Participants
n=5 Participants
|
45 Participants
n=7 Participants
|
106 Participants
n=5 Participants
|
PRIMARY outcome
Timeframe: average of 3-6 monthsPopulation: Those parents initially approached received an email link to the 1st Decision Aid. However, they were not considered enrolled unless they came for an in-person consent visit and elected to have their child's genome sequenced.
Analysis of parents' decisions after they complete an on-line decision aid to see if they wish to participate in the study. Options will be yes, no, or undecided.
Outcome measures
| Measure |
Well Infant, Whole Exome Sequencing
n=145 Participants
Healthy infants and their parents enrolled in the study prenatally will participate. After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done.
|
Diagnosed, Whole Exome Sequencing
n=59 Participants
Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA.
In addition to returning results of conditions associated with a child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.
|
|---|---|---|
|
Parental Choices Following Decision Aid
Said yes or undecided after decision aid
|
120 Participants
|
57 Participants
|
|
Parental Choices Following Decision Aid
Did not want child sequenced
|
25 Participants
|
2 Participants
|
PRIMARY outcome
Timeframe: approximately 3-6 months after DNA sample obtainedPopulation: By definition, there were no well infants in the "Diagnosed, whole exome sequencing" Arm category.
Investigators analyzed next generation sequencing (NGS) results in the diagnosed cohort to determine the ability of whole exome sequencing to detect pathogenic variants in genes related to phenotype determined by standard newborn screening (NBS). The category of genes analyzed is termed the Next Generation Sequencing/Newborn Screening (NGS/NBS) category. Healthy newborns with no known genetic conditions also had the NGS/NBS category of genes analyzed.
Outcome measures
| Measure |
Well Infant, Whole Exome Sequencing
n=61 Participants
Healthy infants and their parents enrolled in the study prenatally will participate. After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done.
|
Diagnosed, Whole Exome Sequencing
n=45 Participants
Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA.
In addition to returning results of conditions associated with a child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.
|
|---|---|---|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
All participants · Well infant
|
61 Participants
|
0 Participants
|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
All participants · Hearing Loss
|
0 Participants
|
28 Participants
|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
All participants · Metabolic Disorder
|
0 Participants
|
17 Participants
|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
Positive NGS/NBS result · Well infant
|
1 Participants
|
0 Participants
|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
Positive NGS/NBS result · Hearing Loss
|
0 Participants
|
5 Participants
|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
Positive NGS/NBS result · Metabolic Disorder
|
0 Participants
|
15 Participants
|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
Negative NGS/NBS results · Well infant
|
60 Participants
|
0 Participants
|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
Negative NGS/NBS results · Hearing Loss
|
0 Participants
|
23 Participants
|
|
Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
Negative NGS/NBS results · Metabolic Disorder
|
0 Participants
|
2 Participants
|
SECONDARY outcome
Timeframe: Time 3 - 2 weeks after results visit and Time 4 - 3 months after results visitPopulation: Total number completing T3 and T4 MICRA scales
Test-related distress is assessed with an adapted version of the Multidimensional Impact of Cancer Risk Assessment (MICRA). It asks participants to report how often in the past week they have experienced worries and distress related to their child's genomic sequencing procedure and test results, and the social and familial consequences of sequencing and the test results. Possible responses are provided on the following scale: 0=Never, 1=Rarely, 3=Sometimes, and 5=Often. Because it refers to respondents' experience of their child's sequencing and the test results they received, it is administered only in assessments that occurred after sequencing at Time 3 (2 weeks after results visit and Time 4 (3 months after results visit). Comparisons are made between couples who could chose to receive additional information about their child's genome and a control group who were not eligible to receive additional information.
Outcome measures
| Measure |
Well Infant, Whole Exome Sequencing
n=126 Participants
Healthy infants and their parents enrolled in the study prenatally will participate. After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done.
|
Diagnosed, Whole Exome Sequencing
n=54 Participants
Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA.
In addition to returning results of conditions associated with a child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.
|
|---|---|---|
|
Parental Reaction Scores
T3
|
2.3 score on a scale
Standard Deviation 2.4
|
1.7 score on a scale
Standard Deviation 1.5
|
|
Parental Reaction Scores
T4
|
2.5 score on a scale
Standard Deviation 2.5
|
1.5 score on a scale
Standard Deviation 0.4
|
Adverse Events
Well Infant, Whole Exome Sequencing
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
Diagnosed, Whole Exome Sequencing
Serious events: 0 serious events
Other events: 2 other events
Deaths: 0 deaths
Serious adverse events
Adverse event data not reported
Other adverse events
| Measure |
Well Infant, Whole Exome Sequencing
n=61 participants at risk
Healthy infants and their parents enrolled in the study prenatally will participate. After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done.
Well infant, whole exome sequencing: Whole exome sequencing will be performed in children with diagnosed conditions. Investigators will analyze results that are associated with their condition.
|
Diagnosed, Whole Exome Sequencing
n=45 participants at risk
Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA.
Diagnosed, whole exome sequencing: In addition to returning results of conditions associated with a child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.
|
|---|---|---|
|
Congenital, familial and genetic disorders
Sample mixup
|
0.00%
0/61 • Adverse event data was collected beginning at Baseline and continued through Time 4 (3 months after results visit).
|
4.4%
2/45 • Number of events 2 • Adverse event data was collected beginning at Baseline and continued through Time 4 (3 months after results visit).
|
Additional Information
Dr. Cynthia M. Powell
The University of North Carolina at Chapel Hill
Phone: 9199667646
Email: [email protected]
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place