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

Not Applicable

Completed

• Conditions: Rare Diseases; Genetic Disease
• Interventions: Diagnostic Test: Genome sequencing

• Registration Number: NCT03380819
• Lead Sponsor: VA Boston Healthcare System

Brief Summary

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

Detailed 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.

Study Timeline

• Study First Submitted: 2017-12-15
• Study First Submitted QC: 2017-12-15
• Study First Posted: 2017-12-21
• Study Start: 2017-12-29
• Primary Completion: 2022-12-31
• Study Completion: 2022-12-31
• Status Verified: 2023-04
• Last Update Submitted: 2023-04-24
• Last Update Posted: 2023-04-26

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

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

Primary Outcome Measures

Name	Time	Method
Primary molecular diagnosis	Baseline	Identification of a genetic variant that explains the patient's indication for sequencing

Secondary Outcome Measures

Name	Time	Method
Secondary genomic results	Baseline	Pathogenic or likely pathogenic variants in over 4600 genes associated with monogenic disease risk, carrier status variants, and pharmacogenomic results

Trial Locations

Locations (1)

VA Boston Healthcare System; 🇺🇸 Boston, Massachusetts, United States