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

Veterans Affairs (VA) Boston Healthcare System

Status: Completed

Conditions: Genetic Disease; Rare Diseases

Treatments: Diagnostic Test: Genome sequencing

Study type: Interventional

Funder types: Other U.S. Federal agency

Identifiers

NCT03380819

2993

Details and patient eligibility

About

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

Full description

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.

Enrollment: 2 patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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2 participants in 1 patient group

Genome sequencing

Experimental group

Description:

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

Treatment:

Diagnostic Test: Genome sequencing