Trial Outcomes & Findings for Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force (NCT NCT03276637)
NCT ID: NCT03276637
Last Updated: 2024-10-02
Results Overview
Assessed using a novel measure of perceptions about use of genetic information for military career duty assignment decisions on a 1-5 scale, where higher scores indicate more positive attitudes.
COMPLETED
NA
105 participants
Baseline and 6 weeks post disclosure of genomic sequencing results (approx. 43 weeks after baseline)
2024-10-02
Participant Flow
Participant milestones
| Measure |
Healthy Active-Duty Airmen Cohort
Whole exome sequencing (WES) will be performed on 75 ostensibly healthy, active-duty Airmen (patient-participants) who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving WES. Military healthcare providers who have received brief genomics training will return results to the patient-participants and the WES reports will be permanently integrated into their electronic medical record.
Whole exome sequencing: Whole exome sequencing at 125x coverage (i.e., at least 125 sequencing reads covering each position within the exome region of interest) performed at the Laboratory of Molecular Medicine's Clinical Laboratory Improvement Amendments (CLIA) certified laboratory on 75 enrolled individuals
|
Healthcare Provider Cohort
The Healthcare providers who provide medical care in military Primary Care, Internal Medicine and/or Family Practice settings and enroll participants. Military healthcare providers have received a brief genomics training and will return results to the patient-participants
|
|---|---|---|
|
Overall Study
STARTED
|
93
|
12
|
|
Overall Study
Airmen Pre Survey
|
93
|
0
|
|
Overall Study
Underwent Sequencing
|
75
|
0
|
|
Overall Study
Airmen Post Survey
|
69
|
0
|
|
Overall Study
HCP Pre Survey
|
0
|
12
|
|
Overall Study
HCP Post Survey
|
0
|
12
|
|
Overall Study
COMPLETED
|
69
|
12
|
|
Overall Study
NOT COMPLETED
|
24
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force
Baseline characteristics by cohort
| Measure |
Healthy Active-Duty Airmen Cohort
n=93 Participants
Whole exome sequencing (WES) will be performed on 75 ostensibly healthy, active-duty Airmen (patient-participants) who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving WES. Military healthcare providers who have received brief genomics training will return results to the patient-participants and the WES reports will be permanently integrated into their electronic medical record.
Whole exome sequencing: Whole exome sequencing at 125x coverage (i.e., at least 125 sequencing reads covering each position within the exome region of interest) performed at the Laboratory of Molecular Medicine's CLIA certified laboratory on 75 enrolled individuals
|
Healthcare Provider Cohort
n=12 Participants
The Healthcare providers who provide medical care in military Primary Care, Internal Medicine and/or Family Practice settings and enroll participants. Military healthcare providers have received a brief genomics training and will return results to the patient-participants
|
Total
n=105 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Categorical
<=18 years
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
93 Participants
n=99 Participants
|
12 Participants
n=107 Participants
|
105 Participants
n=206 Participants
|
|
Age, Categorical
>=65 years
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Age, Continuous
|
33.75 years
STANDARD_DEVIATION 8.3 • n=99 Participants
|
39 years
STANDARD_DEVIATION 9.25 • n=107 Participants
|
34.2 years
STANDARD_DEVIATION 8.4 • n=206 Participants
|
|
Sex: Female, Male
Female
|
45 Participants
n=99 Participants
|
4 Participants
n=107 Participants
|
49 Participants
n=206 Participants
|
|
Sex: Female, Male
Male
|
48 Participants
n=99 Participants
|
8 Participants
n=107 Participants
|
56 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race/Ethnicity · Hispanic or Lation
|
17 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
17 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race/Ethnicity · Non-Hispanic White
|
61 Participants
n=99 Participants
|
6 Participants
n=107 Participants
|
67 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race/Ethnicity · Non-Hispanic Other
|
13 Participants
n=99 Participants
|
6 Participants
n=107 Participants
|
19 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race/Ethnicity · Prefer Not to Answer
|
2 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
2 Participants
n=206 Participants
|
|
Region of Enrollment
United States
|
93 participants
n=99 Participants
|
12 participants
n=107 Participants
|
105 participants
n=206 Participants
|
PRIMARY outcome
Timeframe: Baseline and 6 weeks post disclosure of genomic sequencing results (approx. 43 weeks after baseline)Population: 69 participants completed follow-up survey
Assessed using a novel measure of perceptions about use of genetic information for military career duty assignment decisions on a 1-5 scale, where higher scores indicate more positive attitudes.
Outcome measures
| Measure |
Healthy Active-Duty Airmen Cohort
n=75 Participants
Ostensibly healthy, active-duty Airmen who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving exome sequencing (ES) undergo ES and have the results returned to them.
|
|---|---|
|
Active-duty Airmen's Perceptions About Military Use of Genomic Information to Make Career Decisions
Baseline
|
2.62 score on a scale
Standard Deviation 0.75
|
|
Active-duty Airmen's Perceptions About Military Use of Genomic Information to Make Career Decisions
6-weeks post-disclosure
|
2.66 score on a scale
Standard Deviation 0.91
|
PRIMARY outcome
Timeframe: Results disclosure (within 1 month of sequencing completion)Analysis of whole exome sequencing results identified the number of participants with genomic findings, including monogenic disease risk, carrier status, and risk allele presence.
Outcome measures
| Measure |
Healthy Active-Duty Airmen Cohort
n=75 Participants
Ostensibly healthy, active-duty Airmen who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving exome sequencing (ES) undergo ES and have the results returned to them.
|
|---|---|
|
Genomic Sequencing Findings
Risk Allele findings · Present
|
37 Participants
|
|
Genomic Sequencing Findings
Monogenic disease findings · Present
|
11 Participants
|
|
Genomic Sequencing Findings
Monogenic disease findings · Not Present
|
64 Participants
|
|
Genomic Sequencing Findings
Carrier status findings · Present
|
65 Participants
|
|
Genomic Sequencing Findings
Carrier status findings · Not Present
|
10 Participants
|
|
Genomic Sequencing Findings
Risk Allele findings · Not Present
|
38 Participants
|
PRIMARY outcome
Timeframe: 6 weeks post-disclosure (approx. 43 weeks after baseline)Population: 69 participants completed follow-up survey and several participants selected more than one answer for 83 total responses.
Participants' health care utilization was assessed through a combination of medical record reviews and novel and adapted measures from the Behavioral Risk Factor Surveillance System (BRFSS). Survey self-report data were compared to services and procedures indicated on medical record review.
Outcome measures
| Measure |
Healthy Active-Duty Airmen Cohort
n=83 Participants
Ostensibly healthy, active-duty Airmen who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving exome sequencing (ES) undergo ES and have the results returned to them.
|
|---|---|
|
Active-duty Airmen Reported Health Care Utilization Related to Study Results
Change in diet
|
9 participants
|
|
Active-duty Airmen Reported Health Care Utilization Related to Study Results
Change in exercise
|
7 participants
|
|
Active-duty Airmen Reported Health Care Utilization Related to Study Results
Change in use of vitamin supplements
|
5 participants
|
|
Active-duty Airmen Reported Health Care Utilization Related to Study Results
Change in use of medication
|
5 participants
|
|
Active-duty Airmen Reported Health Care Utilization Related to Study Results
Other change
|
1 participants
|
|
Active-duty Airmen Reported Health Care Utilization Related to Study Results
No change
|
56 participants
|
PRIMARY outcome
Timeframe: Baseline (pre and post) and Follow-up (follow-up administered approx. 53 weeks after baseline)Population: Healthcare providers who completed the pre, post and follow-up surveys
Military healthcare provider-participants' genomic literacy were measured with a 14-item measure adapted from the ClinSeq Study (Kaphingst K.A. et al. 2012) administered at baseline, before (pre) and immediately after (post) an education session, and at Follow-up near the end of the study. Items are marked as correct (1) or incorrect (0) and summed for a total scale range of 0 to 14, with higher scores indicating higher genomic literacy.
Outcome measures
| Measure |
Healthy Active-Duty Airmen Cohort
n=12 Participants
Ostensibly healthy, active-duty Airmen who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving exome sequencing (ES) undergo ES and have the results returned to them.
|
|---|---|
|
Military Healthcare Providers' Genomic Literacy
Pre test
|
9.92 score on a scale
Standard Deviation 1.38
|
|
Military Healthcare Providers' Genomic Literacy
Post test
|
11.50 score on a scale
Standard Deviation 1.45
|
|
Military Healthcare Providers' Genomic Literacy
Follow-up
|
10.75 score on a scale
Standard Deviation 2.25
|
SECONDARY outcome
Timeframe: Baseline and 6-weeks post-disclosure (approx.. 43 weeks after baseline)Population: 69 surveys completed at follow-up
Adapted measures assessed participants' attitudes toward genetic information, trust of physicians and the military regarding use of genetic information. (Hall et al. 2006). Scores are summed, with higher scores on a 4-20 scale representing greater trust. A novel survey item at baseline and 6-weeks post-disclosure asked participants to rate the usefulness of whole genome sequencing results for managing health now on a 1-10 scale.
Outcome measures
| Measure |
Healthy Active-Duty Airmen Cohort
n=75 Participants
Ostensibly healthy, active-duty Airmen who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving exome sequencing (ES) undergo ES and have the results returned to them.
|
|---|---|
|
Active-duty Airmen Attitudes and Perceived Utility Toward Genomic Sequencing
Trust at follow-up
|
14.10 score on a scale
Standard Deviation 2.25
|
|
Active-duty Airmen Attitudes and Perceived Utility Toward Genomic Sequencing
Usefulness - follow-up
|
7.30 score on a scale
Standard Deviation 2.11
|
|
Active-duty Airmen Attitudes and Perceived Utility Toward Genomic Sequencing
Trust at baseline
|
14.31 score on a scale
Standard Deviation 2.47
|
|
Active-duty Airmen Attitudes and Perceived Utility Toward Genomic Sequencing
Usefulness - Baseline
|
7.76 score on a scale
Standard Deviation 2.11
|
SECONDARY outcome
Timeframe: Baseline and 6-weeks post-disclosure (approx.. 43 weeks after baseline)Population: 69 surveys were completed at follow-up
Assessed using a validated measure of subjective perceptions about health status. (Latham 2013, DeSalvo 2006). Responses are on a 1 - 5 scale, where higher scores indicate more positive responses.
Outcome measures
| Measure |
Healthy Active-Duty Airmen Cohort
n=75 Participants
Ostensibly healthy, active-duty Airmen who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving exome sequencing (ES) undergo ES and have the results returned to them.
|
|---|---|
|
Active-duty Airmen's Health Perceptions
Health perceptions- baseline
|
3.95 score on a scale
Standard Deviation 0.81
|
|
Active-duty Airmen's Health Perceptions
Health perceptions - follow-up
|
3.86 score on a scale
Standard Deviation 0.76
|
SECONDARY outcome
Timeframe: Baseline (pre and post) and Follow-up (follow-up administered approx. 53 weeks after baseline)Population: Healthcare providers who completed the pre, post and follow-up surveys
Assessed through a scale developed for the Multiplex initiative to measure provider genomic confidence (Gray SW et al 2014). Scores are summed with higher scores on a 5-20 scale indicating greater confidence in military healthcare provider-participants' abilities to understand genetic information
Outcome measures
| Measure |
Healthy Active-Duty Airmen Cohort
n=12 Participants
Ostensibly healthy, active-duty Airmen who receive medical care in military Primary Care, Internal Medicine and/or Family Practice settings who in their baseline survey expressed interest in receiving exome sequencing (ES) undergo ES and have the results returned to them.
|
|---|---|
|
Military Healthcare Providers' Confidence With Genomic Data
Pre-Test
|
7.25 score on a scale
Standard Deviation 2.05
|
|
Military Healthcare Providers' Confidence With Genomic Data
Post-Test
|
13.00 score on a scale
Standard Deviation 1.41
|
|
Military Healthcare Providers' Confidence With Genomic Data
Follow-up
|
12.33 score on a scale
Standard Deviation 2.29
|
Adverse Events
Healthy Active-Duty Airmen Cohort
Healthcare Provider Cohort
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place