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

September 6, 2024 updated by: Robert C. Green, MD, MPH, Brigham and Women's Hospital

The MilSeq Project: Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Actual)

105

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Brigham and Women's Hospital
    • Texas
      • Houston, Texas, United States, 77030
        • Baylor College of Medicine
      • San Antonio, Texas, United States, 78236
        • Joint Base San Antonio Lackland Air Force Base - 59th Medical Wing

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Health Services Research
  • Allocation: Non-Randomized
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
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
No Intervention: 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Baseline and 6 weeks post disclosure of genomic sequencing results (approx. 43 weeks after baseline)
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.
Results disclosure (within 1 month of sequencing completion)
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.
6 weeks post-disclosure (approx. 43 weeks after baseline)
Military Healthcare Providers' Genomic Literacy
Time Frame: Baseline (pre and post) and Follow-up (follow-up administered approx. 53 weeks after baseline)
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.
Baseline (pre and post) and Follow-up (follow-up administered approx. 53 weeks after baseline)

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Baseline and 6-weeks post-disclosure (approx.. 43 weeks after baseline)
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.
Baseline and 6-weeks post-disclosure (approx.. 43 weeks after baseline)
Military Healthcare Providers' Confidence With Genomic Data
Time Frame: Baseline (pre and post) and Follow-up (follow-up administered approx. 53 weeks after baseline)
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
Baseline (pre and post) and Follow-up (follow-up administered approx. 53 weeks after baseline)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Brigham and Women's Hospital

Collaborators

United States Department of Defense

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 23, 2017

Primary Completion (Actual)

June 22, 2019

Study Completion (Actual)

January 11, 2020

Study Registration Dates

First Submitted

August 31, 2017

First Submitted That Met QC Criteria

September 6, 2017

First Posted (Actual)

September 8, 2017

Study Record Updates

Last Update Posted (Actual)

October 2, 2024

Last Update Submitted That Met QC Criteria

September 6, 2024

Last Verified

September 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • The MilSeq Project

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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