Rare DiseasesNCT03380819
The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care
A study testing Genome sequencing in people with Rare Diseases and Genetic Disease, run by VA Boston Healthcare System at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Genetic Disease
- What is being tested?
- Genome sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Dec 2017to 31 Dec 2022
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient referred by provider to study for genome sequencing
- Life expectancy of at least 12 months in the judgment of the referring provider
Who cannot join
- Life expectancy of <12 months
- Inability to give informed consent
Trial locations and contacts
1 site in 1 country.
United States1 site
VA Boston Healthcare System
Boston, Massachusetts, 02130
About this study
Official title: 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.
Read the 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.
- Conditions
- Rare Diseases, Genetic Disease
- Being tested
- Genome sequencing
- Medical subject headings
- Rare Diseases, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genome sequencingDiagnostic test
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.
| Study group | Role | What they receive |
|---|---|---|
| Genome sequencing | Experimental | Patients undergo exome or whole-genome sequencing, and their patients receive an interpreted clinical report. Receives: Diagnostic Test: Genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary molecular diagnosis
Identification of a genetic variant that explains the patient's indication for sequencing
Measured: Baseline
Secondary outcomes (1)
Secondary genomic results
Pathogenic or likely pathogenic variants in over 4600 genes associated with monogenic disease risk, carrier status variants, and pharmacogenomic results
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Dec 2017
- Study start29 Dec 2017
- Primary completion31 Dec 2022
- Study completion31 Dec 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- VA Boston Healthcare System
- Sponsor type
- US federal agency
- Responsible party
- Principal investigator, Jason L. Vassy, MD, MPH, SM, VA Boston Healthcare System
- Investigators
- Jason L Vassy, MD, MPH, MS, Principal investigator, VA Boston Healthcare System
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03380819
- Sponsor's protocol ID
- 2993
- Status last verified
- Apr 2023
- First submitted
- 15 Dec 2017
- Last updated
- 26 Apr 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Study at a glance
From the registry record, last updated by the sponsor on 26 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Safety and Efficacy of Pharmacogenetics in Veteran Care
- ClinicalTrials.gov ID
- NCT03380819
- Acronym / sponsor ID
- 2993
- Conditions
- Rare Diseases, Genetic Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 2 participants (actual)
- Lead sponsor
- VA Boston Healthcare SystemUS federal agency
- Study start
- 29 Dec 2017 (actual)
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 31 Dec 2022 (actual)
- First posted
- 21 Dec 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genome sequencing | Experimental | Diagnostic Test: Genome sequencingPatients undergo exome or whole-genome sequencing, and their patients receive an interpreted clinical report. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Patient referred by provider to study for genome sequencing
- Life expectancy of at least 12 months in the judgment of the referring provider
Key exclusion criteria (2 listed)
- Life expectancy of <12 months
- Inability to give informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genome sequencingPatients 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. | Diagnostic test | Genome sequencing |
Primary outcome
Primary molecular diagnosis
Time frame: Baseline
Identification of a genetic variant that explains the patient's indication for sequencing
1 secondary outcome
Secondary genomic results
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Apr 2023.
- Individual participant dataSharing planned: Yes. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jason L Vassy, MD, MPH, MS principal investigator
VA Boston Healthcare System
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genome sequencing in people with Rare Diseases and Genetic Disease, run by VA Boston Healthcare System at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Primary molecular diagnosis (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Apr 2023.