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

Genetic Disease Clinical Trial

Official title:

Clinical Safety and Efficacy of Pharmacogenetics in Veteran Care

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03380819
• Other study ID #: 2993
• Status: Completed
• Phase: N/A
• Start date: December 29, 2017
• Est. completion date: December 31, 2022

Study information

• Verified date: April 2023
• Source: VA Boston Healthcare System
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 2
• Est. completion date: December 31, 2022
• Est. primary completion date: December 31, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Genetic Disease
• Genetic Diseases, Inborn
• Rare Diseases

Intervention

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.

Locations

Country	Name	City	State
United States	VA Boston Healthcare System	Boston	Massachusetts

Sponsors (1)

Lead Sponsor	Collaborator
VA Boston Healthcare System

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Change in clinical management	Evidence that genome sequencing results changed the medical care of the patient	3 months
Other	Self-reported health and quality of life	Veterans Rand (VR)-12	3 months
Primary	Primary molecular diagnosis	Identification of a genetic variant that explains the patient's indication for sequencing	Baseline
Secondary	Secondary genomic results	Pathogenic or likely pathogenic variants in over 4600 genes associated with monogenic disease risk, carrier status variants, and pharmacogenomic results	Baseline