The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care

The VetSeq Study is a pilot intervention study exploring the feasibility of integrating genome sequencing into clinical care at the VA Boston Healthcare System.

The VetSeq Study is a pilot intervention study exploring the feasibility of integrating genome sequencing into clinical care at the VA Boston Healthcare System. Healthcare providers may refer any patients who they think might benefit from diagnostic whole genome or exome sequencing. Providers will briefly discuss genome sequencing and the pilot study with potentially eligible patients. If a patient is interested, the provider will refer him/her to the study by contacting the study staff and providing the reason (clinical question) why the provider thinks genome sequencing might be beneficial for the patient. The study staff will meet with the patient to conduct a baseline interview and survey, obtain informed consent for sequencing, and obtain a blood specimen for sequencing. A clinical laboratory will perform exome or whole-genome sequencing and issue an interpreted genome report including any variant possibly explaining the patient's condition, in addition to secondary monogenic, carrier, and pharmacogenomic results. This report will be sent to the referring provider, who will document the results and associated decision-making in the medical record. Approximately 3 months later, study staff will conduct a follow-up interview and survey with the participating patient.

Patients undergo exome or whole-genome sequencing, and their patients receive an interpreted clinical report.

Patients will undergo exome or genome sequencing, and their referring provider will receive an interpreted report with the following categories of results: 1) results related to the indication for testing, 2) secondary monogenic results, 3) carrier status, 4) pharmacogenomics results.

Pathogenic or likely pathogenic variants in over 4600 genes associated with monogenic disease risk, carrier status variants, and pharmacogenomic results

Inclusion criteria: Patient referred by provider to study for genome sequencing Life expectancy of at least 12 months in the judgment of the referring provider Exclusion criteria: Life expectancy of <12 months Inability to give informed consent

A research data repository will be created from the genome sequence data, genome report data, patient survey data, and data abstracted from medical charts. identified genome sequence data.

Interested investigators will obtain institutional review board (IRB)-approval and complete a Combined Data Use-Data Transfer Agreement to access the data repository.