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

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ClinicalTrials.gov Identifier: NCT03276637
Recruitment Status : Recruiting
First Posted : September 8, 2017
Last Update Posted : September 11, 2017
Sponsor:
Collaborator:
United States Department of Defense
Information provided by (Responsible Party):
Robert C. Green, MD, MPH, Brigham and Women's Hospital

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.

Condition or disease Intervention/treatment Phase
Healthy Adults Genetic Predisposition to Disease Genetic: Whole exome sequencing Not Applicable

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 EMR (Electronic Medical Record) 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 750 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)
Estimated Enrollment : 75 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 traning 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
Estimated Primary Completion Date : September 2018
Estimated Study Completion Date : September 2018

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 CLIA certified laboratory on 75 enrolled individuals




Primary Outcome Measures :
  1. Change in military healthcare providers' genomic knowledge [ Time Frame: Baseline, after education (within 1 month of baseline), 6 months prior to study completion ]
    Novel and adapted (Kaphingst, K.A., et al. 2012; Bowling, B.V., et al. 2008) survey measures will assess military healthcare providers' genomic knowledge before and after receiving a genomic education primer, and after disclosing one or more whole exome sequencing result(s)

  2. Change in active-duty Airmen's perceptions of military health system integration of genomic data on career status [ Time Frame: Baseline, 6 weeks after results disclosure ]
    Novel survey measures will assess active-duty patient-participants' perceptions of military health system integration of genomic data on career status

  3. Genomic sequencing findings [ Time Frame: Results disclosure (within 1 month of sequencing completion) ]
    Whole exome sequencing results will identify the counts and proportions of genomic findings in the active-duty patient-participant population

  4. Change in military healthcare utilization subsequent to introduction of genomic medicine [ Time Frame: Within 2 weeks after results disclosure for military healthcare provider-participants, 6 weeks after results disclosure for active-duty patient-participants, 1 year after results disclosure ]
    Novel survey measures and military medical record review by trained genetic professional(s) will assess the percentage of active-duty patient-participants who receive follow-up recommendations and healthcare interventions, as well as their appropriateness


Secondary Outcome Measures :
  1. Change in military healthcare providers' confidence with genomic data [ Time Frame: Baseline, after education (within one month of baseline), 6 months prior to study completion ]
    Novel and adapted (Kaphingst, K.A., et al. 2012; Gray S.W., et al., 2014) survey measures will assess military healthcare providers' confidence in receiving, interpreting, and returning whole exome sequencing results

  2. Change in active-duty Airmen's perceptions and attitudes toward genomic sequencing [ Time Frame: Baseline, 6 weeks after results disclosure ]
    Novel survey measures will assess active-duty patient-participants' perceptions and attitudes toward genomic sequencing

  3. Change in active-duty Airmen's health subsequent to introduction of genomic medicine [ Time Frame: Baseline, 6 weeks after results disclosure, 1 year after results disclosure ]
    Validated (Selim, A.J., et al. 2011) survey measures and military medical record review by trained genetic professional(s) will assess quality of life



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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

Information from the National Library of Medicine

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


Contacts
Contact: Megan D Maxwell, MS (210) 292-7556 mdmaxwell@bwh.harvard.edu
Contact: Carrie Blout, MS 617-264-5837 cblout@bwh.harvard.edu

Locations
United States, Massachusetts
Brigham and Women's Hospital Not yet recruiting
Boston, Massachusetts, United States, 02115
Contact: Megan D Maxwell, MS    210-292-7556    mdmaxwell@bwh.harvard.edu   
Contact: Carrie Blout, MS    617-264-5837    cblout@bwh.harvard.edu   
Principal Investigator: Robert C Green, MD, MPH         
Sub-Investigator: Kurt Christensen, PhD         
Sub-Investigator: Joel Krier, MD         
Sub-Investigator: Heidi Rehm, PhD         
Sub-Investigator: Matthew Lebo, PhD         
Sub-Investigator: William J Lane, MD, PhD         
Sub-Investigator: Megan D Maxwell, MS         
Sub-Investigator: Carrie Blout, MS         
United States, Mississippi
Keesler Air Force Base Active, not recruiting
Biloxi, Mississippi, United States, 39530
United States, Texas
Baylor College of Medicine Active, not recruiting
Houston, Texas, United States, 77030
Joint Base San Antonio Lackland Air Force Base - 59th Medical Wing Recruiting
San Antonio, Texas, United States, 78236
Contact: Megan D Maxwell, MS    210-292-7556    megan.d.maxwell.ctr@mail.mil   
Contact: Cubby Gardner, PhD    (210) 292-6785    cubby.l.gardner.mil@mail.mil   
Principal Investigator: Cubby Gardner, PhD         
Sub-Investigator: Megan D Maxwell, MS         
Sponsors and Collaborators
Brigham and Women's Hospital
United States Department of Defense

Publications:
McMorrow D. The $100 genome: implications for the DoD. Technical Report. McLean, Virginia: The MITRE Corporation; 2010.
De Castro M, Biesecker LG, Turner C, et al. Genomic medicine in the military. Genomic Medicine 2016;Epub ahead of print.
Green RC, Rehm HL, Kohane IS. Clinical genome sequencing. In: Ginsburg GS, Willard HF, eds. Genomic and Personalized Medicine. 2nd ed. San Diego: Academic Press; 2013:102-22.
Krier J, McLaughlin HM, Lane WJ, et al. The return of pharmacogenomic variants in the MedSeq Project: reporting approach and physician response. Annual Meeting of the American Society of Human Genetics. Boston, MA2013
Giovanni MA, Krier J, Vassy JL, Lautenbach DM, Green RC, Murray MF. A brief curriculum for physician orientation to clinical whole genome sequencing. American Society of Human Genetics Annual Meeting. Boston, MA2013.
Krier JB, Blout CB, D L, et al. Communication and management of genomic sequencing results by non-geneticist physicians. American Society of Human Genetics; 2015; Baltimore, MD.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12.

Responsible Party: Robert C. Green, MD, MPH, Associate Professor of Medicine, Division of Genetics, Department of Medicine, Brigham and Women's Hospital
ClinicalTrials.gov Identifier: NCT03276637     History of Changes
Other Study ID Numbers: The MilSeq Project
First Posted: September 8, 2017    Key Record Dates
Last Update Posted: September 11, 2017
Last Verified: September 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Robert C. Green, MD, MPH, Brigham and Women's Hospital:
Genome Sequencing
Exome Sequencing
Military
Air Force

Additional relevant MeSH terms:
Disease Susceptibility
Genetic Predisposition to Disease
Disease Attributes
Pathologic Processes