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Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force (MilSeq)

Primary Purpose

Healthy Adults, Genetic Predisposition to Disease

Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Whole exome sequencing
Sponsored by
Brigham and Women's Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional health services research trial for Healthy Adults focused on measuring Whole Genome Sequencing, Whole Exome Sequencing, Military, Air Force, Disease Susceptibility, Genetic Predisposition to Disease, Disease Attributes, Pathologic Processes

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

Patient-Participant Inclusion Criteria:

  • 18 years or older
  • An active Air Force Airman
  • Fluent in English
  • Seen or eligible to be seen by a provider at Wilford Hall Ambulatory Surgical Center at Joint Base San Antonio (JBSA) Lackland Air Force Base

Healthcare Provider-Participant Inclusion Criterion

  • An active or Department of Defense civilian Primary Care, Internal Medicine, or Family Practice Healthcare Provider (Physician, Physician Assistant, or Nurse Practitioner) or resident practicing at Wilford Hall Ambulatory Surgical Center at JBSA Lackland Air Force Base

Patient-Participant Exclusion Criteria:

  • Those who do not meet the above inclusion criteria
  • Those with clinically concerning scores on anxiety and distress scales in baseline survey
  • Trainees (basic military training or tech school)
  • Airmen with an active change of duty station order or deployment order and expected to leave San Antonio in 6 months or less
  • Airmen expected to be discharged from the Air Force in 6 months or less

Healthcare Provider-Participant Exclusion Criteria:

  • Providers who do not meet the above inclusion criteria
  • Providers with an active change of duty station order or deployment order and expected to leave San Antonio in 6 months or less
  • Providers expected to be discharged from the Air Force in 6 months or less

Sites / Locations

  • Brigham and Women's Hospital
  • Baylor College of Medicine
  • Joint Base San Antonio Lackland Air Force Base - 59th Medical Wing

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Healthy Active-Duty Airmen Cohort

Arm 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.

Outcomes

Primary Outcome Measures

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.
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.
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.

Secondary Outcome Measures

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.
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.

Full Information

First Posted
August 31, 2017
Last Updated
April 13, 2021
Sponsor
Brigham and Women's Hospital
Collaborators
United States Department of Defense
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1. Study Identification

Unique Protocol Identification Number
NCT03276637
Brief Title
Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force
Acronym
MilSeq
Official Title
The MilSeq Project: Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force
Study Type
Interventional

2. Study Status

Record Verification Date
April 2021
Overall Recruitment Status
Completed
Study Start Date
August 23, 2017 (Actual)
Primary Completion Date
June 22, 2019 (Actual)
Study Completion Date
January 11, 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Brigham and Women's Hospital
Collaborators
United States Department of Defense

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

Brief Summary
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.
Detailed Description
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Healthy Adults, Genetic Predisposition to Disease
Keywords
Whole Genome Sequencing, Whole Exome Sequencing, Military, Air Force, Disease Susceptibility, Genetic Predisposition to Disease, Disease Attributes, Pathologic Processes

7. Study Design

Primary Purpose
Health Services Research
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
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)
Allocation
N/A
Enrollment
93 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Healthy Active-Duty Airmen Cohort
Arm Type
Experimental
Arm 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.
Intervention Type
Genetic
Intervention Name(s)
Whole exome sequencing
Intervention Description
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
Primary Outcome Measure Information:
Title
Active-duty Airmen's Perceptions About Military Use of Genomic Information to Make Career Decisions
Description
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)
Title
Genomic Sequencing Findings
Description
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)
Title
Active-duty Airmen Reported Health Care Utilization Related to Study Results
Description
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)
Secondary Outcome Measure Information:
Title
Active-duty Airmen Attitudes and Perceived Utility Toward Genomic Sequencing
Description
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)
Title
Active-duty Airmen's Health Perceptions
Description
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)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Patient-Participant Inclusion Criteria: 18 years or older An active Air Force Airman Fluent in English Seen or eligible to be seen by a provider at Wilford Hall Ambulatory Surgical Center at Joint Base San Antonio (JBSA) Lackland Air Force Base Healthcare Provider-Participant Inclusion Criterion An active or Department of Defense civilian Primary Care, Internal Medicine, or Family Practice Healthcare Provider (Physician, Physician Assistant, or Nurse Practitioner) or resident practicing at Wilford Hall Ambulatory Surgical Center at JBSA Lackland Air Force Base Patient-Participant Exclusion Criteria: Those who do not meet the above inclusion criteria Those with clinically concerning scores on anxiety and distress scales in baseline survey Trainees (basic military training or tech school) Airmen with an active change of duty station order or deployment order and expected to leave San Antonio in 6 months or less Airmen expected to be discharged from the Air Force in 6 months or less Healthcare Provider-Participant Exclusion Criteria: Providers who do not meet the above inclusion criteria Providers with an active change of duty station order or deployment order and expected to leave San Antonio in 6 months or less Providers expected to be discharged from the Air Force in 6 months or less
Facility Information:
Facility Name
Brigham and Women's Hospital
City
Boston
State/Province
Massachusetts
ZIP/Postal Code
02115
Country
United States
Facility Name
Baylor College of Medicine
City
Houston
State/Province
Texas
ZIP/Postal Code
77030
Country
United States
Facility Name
Joint Base San Antonio Lackland Air Force Base - 59th Medical Wing
City
San Antonio
State/Province
Texas
ZIP/Postal Code
78236
Country
United States

12. IPD Sharing Statement

Plan to Share IPD
Undecided
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Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

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