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

Clinical Safety and Efficacy of Pharmacogenetics 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.

Study Overview

• Status: Completed
• Conditions: Rare Diseases; Genetic Disease
• Intervention / Treatment: Diagnostic test: Genome sequencing

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 Type: Interventional
• Enrollment (Actual): 2
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02130
      • VA Boston Healthcare System

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Genome sequencing; Patients undergo exome or whole-genome sequencing, and their patients receive an interpreted clinical report.	Diagnostic test: Genome sequencing; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Primary molecular diagnosis	Identification of a genetic variant that explains the patient's indication for sequencing	Baseline

Secondary Outcome Measures

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in clinical management	Evidence that genome sequencing results changed the medical care of the patient	3 months
Self-reported health and quality of life	Veterans Rand (VR)-12	3 months

Collaborators and Investigators

• Sponsor: VA Boston Healthcare System
• Investigators: Principal Investigator: Jason L Vassy, MD, MPH, MS, VA Boston Healthcare System

Study record dates

Study Major Dates

• Study Start (Actual): December 29, 2017
• Primary Completion (Actual): December 31, 2022
• Study Completion (Actual): December 31, 2022

Study Registration Dates

• First Submitted: December 15, 2017
• First Submitted That Met QC Criteria: December 15, 2017
• First Posted (Actual): December 21, 2017

Study Record Updates

• Last Update Posted (Actual): April 26, 2023
• Last Update Submitted That Met QC Criteria: April 24, 2023
• Last Verified: April 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Genetic Diseases, Inborn; Rare Diseases
• Other Study ID Numbers: 2993

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: 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.
• IPD Sharing Time Frame: Indefinitely
• IPD Sharing Access Criteria: Interested investigators will obtain institutional review board (IRB)-approval and complete a Combined Data Use-Data Transfer Agreement to access the data repository.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No