Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
The VetSeq Study is a pilot intervention study exploring the feasibility of integrating genome sequencing into clinical care at the VA Boston Healthcare System.
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.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Genome sequencing | Experimental | Patients undergo exome or whole-genome sequencing, and their patients receive an interpreted clinical report. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genome sequencing | Diagnostic 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Primary molecular diagnosis | Identification of a genetic variant that explains the patient's indication for sequencing | Baseline |
| 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 |
| 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 |
Inclusion criteria:
Exclusion criteria:
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Jason L Vassy, MD, MPH, MS | VA Boston Healthcare System | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| VA Boston Healthcare System | Boston | Massachusetts | 02130 | United States |
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.
Indefinitely
Interested investigators will obtain institutional review board (IRB)-approval and complete a Combined Data Use-Data Transfer Agreement to access the data repository.
Not provided
Not provided
| ID | Term |
|---|---|
| D035583 | Rare Diseases |
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
|
| 3 months |