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

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.

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