Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force (MilSeq)
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|ClinicalTrials.gov Identifier: NCT03276637|
Recruitment Status : Completed
First Posted : September 8, 2017
Results First Posted : May 6, 2021
Last Update Posted : May 6, 2021
|Condition or disease||Intervention/treatment||Phase|
|Healthy Adults Genetic Predisposition to Disease||Genetic: Whole exome sequencing||Not Applicable|
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.
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||93 participants|
|Intervention Model:||Single Group Assignment|
|Intervention Model Description:||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.|
|Masking:||None (Open Label)|
|Primary Purpose:||Health Services Research|
|Official Title:||The MilSeq Project: Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force|
|Actual Study Start Date :||August 23, 2017|
|Actual Primary Completion Date :||June 22, 2019|
|Actual Study Completion Date :||January 11, 2020|
Experimental: 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.
Genetic: 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
- Active-duty Airmen's Perceptions About Military Use of Genomic Information to Make Career Decisions [ Time Frame: Baseline and 6 weeks post disclosure of genomic sequencing results (approx. 43 weeks after baseline) ]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.
- Genomic Sequencing Findings [ Time Frame: 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.
- Active-duty Airmen Reported Health Care Utilization Related to Study Results [ Time Frame: 6 weeks post-disclosure (approx. 43 weeks after baseline) ]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.
- Active-duty Airmen Attitudes and Perceived Utility Toward Genomic Sequencing [ Time Frame: Baseline and 6-weeks post-disclosure (approx.. 43 weeks after baseline) ]
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.
- Active-duty Airmen's Health Perceptions [ Time Frame: Baseline and 6-weeks post-disclosure (approx.. 43 weeks after baseline) ]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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03276637
|United States, Massachusetts|
|Brigham and Women's Hospital|
|Boston, Massachusetts, United States, 02115|
|United States, Texas|
|Baylor College of Medicine|
|Houston, Texas, United States, 77030|
|Joint Base San Antonio Lackland Air Force Base - 59th Medical Wing|
|San Antonio, Texas, United States, 78236|