An interventional study of Whole exome sequencing in Healthy Adults and Genetic Predisposition to Disease, sponsored by Brigham and Women's Hospital. Completed at 3 sites in United States. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-10-02.
Sponsored by Brigham and Women's Hospital · Not applicable, Interventional, and Health services research
The MilSeq Project is a nonrandomized, prospective pilot study of whole exome sequencing (WES) in the U.S. Air Force. The purpose of this study is to explore the implementation of WES into clinical medical care in the military health system.
The objective of this effort is to investigate: (a) military healthcare providers' (HCPs') genomic knowledge before and after receiving a genomic educational primer and after disclosing whole exome sequencing (WES) results to begin to assess the genomic educational needs of military HCPs; (b) active-duty Airmen's knowledge and perceptions of genomic sequencing (GS); (c) reasons why active-duty Airmen choose to participate, or not to participate, in research involving GS; (d) how WES study participants, including HCPs and sequenced active-duty Airmen (patient-participants), respond to and use WES results; (e) the collection of medical, behavioral, and healthcare utilization outcomes related to the clinical integration of WES in the military; (f) how return of WES results and integration into the Electronic Medical Record (EMR) do or do not impact perceptions of mission readiness and duty assignments. Given the lack of prior research in this area in the Air Force and the broad number of topics of interest, the aims of the study are predominantly exploratory and results may be hypothesis generating.
The MilSeq Project will be conducted in two sequential phases. Phase I of the study will recruit, consent, and enroll approximately 75 ostensibly healthy active-duty Airmen who receive medical care in military Primary Care, Internal Medicine, and/or Family Practice settings to take a baseline survey. This survey will be administered to explore active-duty Airmen's perceptions of and preferences for GS, identify motivations and barriers to active-duty Airmen participating in a WES study, and assess interest in taking part in the WES study.
Phase II of the study will recruit, consent, and enroll 75 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 WES through a research study. WES will be performed on each enrolled patient-participant. The result will be disclosed by an HCP-participant and permanently integrated into the patient-participant's EMR. Phase II will also recruit 10-20 military Primary Care, Internal Medicine, and/or Family Practice HCPs and consent them to participate in the study. The HCPs will receive an educational primer in genomics and will disclose WES results to Airmen participants.
There are a number of potential benefits and challenges to incorporating genomic medicine into the military, some that are relevant to the broader civilian community, but some that are unique to this population. Some of these challenges include: (a) how GS may or may not affect the perception of fitness for duty; (b) how genomic discrimination may or may not occur in the military setting; (c) how to best deal with unanticipated findings; and (d) how genomic results can be practically integrated into a military setting. In this pilot study, these potential opportunities and challenges will be explored, which will provide a basis for future study and begin to inform decisions regarding clinical care of active-duty service members.
241 studies on the registry are indexed under Genetic Predisposition to Disease; 95 are open to participants now.
This study's enrollment of 105 is below the median of 250 across 85 interventional studies indexed under Genetic Predisposition to Disease.
Browse Genetic Predisposition to Disease studies →Brigham and Women's Hospital is the lead sponsor of 1,267 studies on the registry; 228 are open to participants now.
Of its 116 completed or terminated interventional studies of FDA-regulated products, 65 (56%) have results posted.
Counted across the registry records on this site, refreshed daily.
Patient-Participant Inclusion Criteria:
Healthcare Provider-Participant Inclusion Criterion
Patient-Participant Exclusion Criteria:
Healthcare Provider-Participant Exclusion Criteria:
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.
Genetic: Whole exome sequencing
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
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
Active-duty Airmen's Perceptions About Military Use of Genomic Information to Make Career Decisions
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.
Time frame: Baseline and 6 weeks post disclosure of genomic sequencing results (approx. 43 weeks after baseline)
Genomic Sequencing Findings
Analysis of whole exome sequencing results identified the number of participants with genomic findings, including monogenic disease risk, carrier status, and risk allele presence.
Time frame: Results disclosure (within 1 month of sequencing completion)
Active-duty Airmen Reported Health Care Utilization Related to Study Results
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.
Time frame: 6 weeks post-disclosure (approx. 43 weeks after baseline)
Military Healthcare Providers' Genomic Literacy
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.
Time frame: Baseline (pre and post) and Follow-up (follow-up administered approx. 53 weeks after baseline)
Active-duty Airmen Attitudes and Perceived Utility Toward Genomic Sequencing
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.
Time frame: Baseline and 6-weeks post-disclosure (approx.. 43 weeks after baseline)
Active-duty Airmen's Health Perceptions
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.
Time frame: Baseline and 6-weeks post-disclosure (approx.. 43 weeks after baseline)
Military Healthcare Providers' Confidence With Genomic Data
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
Time frame: Baseline (pre and post) and Follow-up (follow-up administered approx. 53 weeks after baseline)
| Milestone | Healthy Active-Duty Airmen Cohort | Healthcare Provider Cohort |
|---|---|---|
| Started | 93 | 12 |
| Airmen pre survey | 93 | 0 |
| Underwent sequencing | 75 | 0 |
| Airmen post survey | 69 | 0 |
| Hcp pre survey | 0 | 12 |
| Hcp post survey | 0 | 12 |
| Completed | 69 | 12 |
| Not completed | 24 | 0 |
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.
| score on a scale | Healthy Active-Duty Airmen Cohort |
|---|---|
| Baseline | 2.62 ± 0.75 |
| 6-weeks post-disclosure | 2.66 ± 0.91 |
Analysis of whole exome sequencing results identified the number of participants with genomic findings, including monogenic disease risk, carrier status, and risk allele presence.
| Participants | Healthy Active-Duty Airmen Cohort |
|---|---|
| Monogenic disease findings — Present | 11 |
| Monogenic disease findings — Not Present | 64 |
| Carrier status findings — Present | 65 |
| Carrier status findings — Not Present | 10 |
| Risk Allele findings — Present | 37 |
| Risk Allele findings — Not Present | 38 |
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.
| participants | Healthy Active-Duty Airmen Cohort |
|---|---|
| Change in diet | 9 |
| Change in exercise | 7 |
| Change in use of vitamin supplements | 5 |
| Change in use of medication | 5 |
| Other change | 1 |
| No change | 56 |
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.
| score on a scale | Healthcare Provider Cohort |
|---|---|
| Pre test | 9.92 ± 1.38 |
| Post test | 11.50 ± 1.45 |
| Follow-up | 10.75 ± 2.25 |
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.
| score on a scale | Healthy Active-Duty Airmen Cohort |
|---|---|
| Trust at baseline | 14.31 ± 2.47 |
| Trust at follow-up | 14.10 ± 2.25 |
| Usefulness - Baseline | 7.76 ± 2.11 |
| Usefulness - follow-up | 7.30 ± 2.11 |
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.
| score on a scale | Healthy Active-Duty Airmen Cohort |
|---|---|
| Health perceptions- baseline | 3.95 ± 0.81 |
| Health perceptions - follow-up | 3.86 ± 0.76 |
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
| score on a scale | Healthcare Provider Cohort |
|---|---|
| Pre-Test | 7.25 ± 2.05 |
| Post-Test | 13.00 ± 1.41 |
| Follow-up | 12.33 ± 2.29 |
Collected over From baseline survey to approximately 6 weeks after disclosure (43 weeks after baseline). Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Healthy Active-Duty Airmen Cohort | 0/75 (0%) | 0/75 (0%) | 0/75 (0%) |
| Healthcare Provider Cohort | 0/12 (0%) | 0/12 (0%) | 0/12 (0%) |
| Age, Categorical(Participants) | Healthy Active-Duty Airmen Cohort | Healthcare Provider Cohort | Total |
|---|---|---|---|
| <=18 years | 0 | 0 | 0 |
| Between 18 and 65 years | 93 | 12 | 105 |
| >=65 years | 0 | 0 | 0 |
| Age, Continuous(years) | Healthy Active-Duty Airmen Cohort | Healthcare Provider Cohort | Total |
|---|---|---|---|
| Mean | 33.75 ± 8.3 | 39 ± 9.25 | 34.2 ± 8.4 |
| Sex: Female, Male(Participants) | Healthy Active-Duty Airmen Cohort | Healthcare Provider Cohort | Total |
|---|---|---|---|
| Female | 45 | 4 | 49 |
| Male | 48 | 8 | 56 |
| Race/Ethnicity, Customized(Participants) | Healthy Active-Duty Airmen Cohort | Healthcare Provider Cohort | Total |
|---|---|---|---|
| Race/Ethnicity — Hispanic or Lation | 17 | 0 | 17 |
| Race/Ethnicity — Non-Hispanic White | 61 | 6 | 67 |
| Race/Ethnicity — Non-Hispanic Other | 13 | 6 | 19 |
| Race/Ethnicity — Prefer Not to Answer | 2 | 0 | 2 |
| Region of Enrollment(participants) | Healthy Active-Duty Airmen Cohort | Healthcare Provider Cohort | Total |
|---|---|---|---|
| United States | 93 | 12 | 105 |
PDFs hosted by the registry, ClinicalTrials.gov.
Plan to share: Undecided
Ran from Aug 2017 to primary completion in Jun 2019, 21 months.
Results were first posted in May 2021, 1 year 10 months after primary completion.
Of 57 non-industry interventional studies with no phase under Genetic Predisposition to Disease, half reached primary completion within 36 months of starting (the median), counting those still running; a quarter within 18 and three quarters within 128. This study's 21 months is below that.
Counting every sponsor, half of 57 studies reached it within 36 months; a quarter within 18 and three quarters within 128.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Sep 2024. You cannot join it, but the record below documents what was studied.
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