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Trial record 65 of 9082 for:    Genetic Diseases, Inborn AND genetic disorder

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03380819
Recruitment Status : Enrolling by invitation
First Posted : December 21, 2017
Last Update Posted : April 24, 2019
Information provided by (Responsible Party):
Jason L. Vassy, MD, MPH, SM, 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.

Condition or disease Intervention/treatment Phase
Rare Diseases Genetic Disease Diagnostic Test: Genome sequencing Not Applicable

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.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Clinical Safety and Efficacy of Pharmacogenetics in Veteran Care
Actual Study Start Date : December 29, 2017
Estimated Primary Completion Date : December 31, 2020
Estimated Study Completion Date : December 31, 2020

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.

Primary Outcome Measures :
  1. Primary molecular diagnosis [ Time Frame: Baseline ]
    Identification of a genetic variant that explains the patient's indication for sequencing

Secondary Outcome Measures :
  1. Secondary genomic results [ Time Frame: Baseline ]
    Pathogenic or likely pathogenic variants in over 4600 genes associated with monogenic disease risk, carrier status variants, and pharmacogenomic results

Other Outcome Measures:
  1. Change in clinical management [ Time Frame: 3 months ]
    Evidence that genome sequencing results changed the medical care of the patient

  2. Self-reported health and quality of life [ Time Frame: 3 months ]
    Veterans Rand (VR)-12

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03380819

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United States, Massachusetts
VA Boston Healthcare System
Boston, Massachusetts, United States, 02130
Sponsors and Collaborators
VA Boston Healthcare System
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Principal Investigator: Jason L Vassy, MD, MPH, SM VA Boston Healthcare System

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Responsible Party: Jason L. Vassy, MD, MPH, SM, Clinician-investigator, VA Boston Healthcare System Identifier: NCT03380819     History of Changes
Other Study ID Numbers: 2993
First Posted: December 21, 2017    Key Record Dates
Last Update Posted: April 24, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
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.
Supporting Materials: Study Protocol
Informed Consent Form (ICF)
Time Frame: Indefinitely
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.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Genetic Diseases, Inborn
Rare Diseases
Disease Attributes
Pathologic Processes