CardioSeq: A Prospective, Single-Center, Open-label Study to Evaluate the Impact of Whole Genome Sequencing (WGS) in Individuals With Cardiovascular Disease
Trial Snapshot
- Phase
- Not Applicable
- Sponsor
- Illumina, Inc.
- Enrollment
- 1,500
- Locations
- 1
- Primary Endpoint
- Number of patients who receive a new monogenic cardiovascular disease finding
Study Overview
Brief Summary
This is a prospective, single-center, open-label study to investigate the diagnostic efficacy of the TruGenome CVD test and its impact on clinical management compared to usual care in individuals with cardiovascular disease. Diagnostic yield and changes of management (CoM) will be assessed both within the WGS group and compared to a contemporaneous, matched (2:1) usual care (UC) group sourced from EHR records.
Detailed Description
The TruGenome Cardiovascular Disease (CVD) test which consists of an in-silico 200 gene cardiovascular disease panel, a further 4 genes with cardiovascular disease risk alleles, 10 pharmacogenomic genes, 35 non-cardiovascular ACMG secondary finding genes and a polygenic risk score (PRS) for coronary artery disease (CAD) will be utilized in this study.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Screening
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Individuals ≥18 years of age
- •Stable ambulatory patients with a cardiology visit within the past year or scheduled within the next 90 days.
- •At least one of the following clinical diagnoses:
- •A. Any aortopathy, B. Dyslipidemia, C. Coronary or peripheral arterial disease, D. Heart Failure or cardiomyopathy, E. Any arrythmia
- •Must be able to read, understand, and sign an informed consent
Exclusion Criteria
- •Individuals with a previously confirmed molecular diagnosis of a known genetic disease with an associated cardiovascular phenotype inclusive of monogenic cardiovascular diseases, chromosomal aneuploidies, and microdeletion disorders.
- •Bone marrow transplant recipients
- •Individuals with severe cognitive dysfunction or diminished capacity who are unable to provide informed consent
- •Patients undergoing active chemotherapy treatment for cancer
- •Patients with end-stage renal disease
- •Patients with poor medical prognosis with a life expectancy <1 year
- •Principal Investigator decides for any reason the study is not in the best interest of the patient
Arms & Interventions
Single Arm
To investigate the diagnostic efficacy of WGS and its impact on clinical management compared to usual care in individuals with cardiovascular disease. Diagnostic yield and changes of management (CoM) will be assessed both within the WGS group and compared to a contemporaneous, matched (2:1) usual care (UC) group sourced from EHR records.
Intervention: TruGenome Cardiovascular Disease test (Diagnostic Test)
Outcomes
Primary Outcomes
Number of patients who receive a new monogenic cardiovascular disease finding
Time Frame: 42 Months
Quantify the proportion of patients who receive a new monogenic cardiovascular disease finding from the TruGenome CVD test
Secondary Outcomes
- Number of patients who receive any monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings.(42 Months)
- Number of patients who receive monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings leading to a CoM within 3 months (90 days) and 6 months (180 days) after Return of Results (RoR).(Within 3 months (90 days) and 6 months (180 days) after Return of Results)