Rare Diseases, Genetic Disease
Conditions
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.
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.
Interventions
DIAGNOSTIC_TESTGenome 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.
Sponsors
VA Boston Healthcare System
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Primary molecular diagnosis | Baseline | Identification of a genetic variant that explains the patient's indication for sequencing |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Secondary genomic results | Baseline | Pathogenic or likely pathogenic variants in over 4600 genes associated with monogenic disease risk, carrier status variants, and pharmacogenomic results |
Other
| Measure | Time frame | Description |
|---|---|---|
| Change in clinical management | 3 months | Evidence that genome sequencing results changed the medical care of the patient |
| Self-reported health and quality of life | 3 months | Veterans Rand (VR)-12 |
Countries
United States
Outcome results
None listed