CardioSeq: Impact of WGS in Individuals With CVD

CardioSeq: A Prospective, Single-Center, Open-label Study to Evaluate the Impact of Whole Genome Sequencing (WGS) in Individuals With Cardiovascular Disease

Status

Active, not recruiting

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT05656183

Enrollment

1500

Registered

2022-12-19

Start date

2023-01-06

Completion date

2025-06-30

Last updated

2024-04-30

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cardiovascular Diseases

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.

Interventions

DIAGNOSTIC_TESTTruGenome Cardiovascular Disease test

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

SCREENING

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

1. Individuals ≥18 years of age 2. Stable ambulatory patients with a cardiology visit within the past year or scheduled within the next 90 days. 3. 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 4. Must be able to read, understand, and sign an informed consent

Exclusion criteria

1. 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. 2. Bone marrow transplant recipients 3. Individuals with severe cognitive dysfunction or diminished capacity who are unable to provide informed consent 4. Patients undergoing active chemotherapy treatment for cancer 5. Patients with end-stage renal disease 6. Patients with poor medical prognosis with a life expectancy \<1 year 7. Principal Investigator decides for any reason the study is not in the best interest of the patient

Design outcomes

Primary

Measure	Time frame	Description
Number of patients who receive a new monogenic cardiovascular disease finding	42 Months	Quantify the proportion of patients who receive a new monogenic cardiovascular disease finding from the TruGenome CVD test

Secondary

Measure	Time frame	Description
Number of patients who receive any monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings.	42 Months	Quantify the proportion of patients who receive monogenic cardiovascular disease, cardiovascular risk allele and/or cardiovascular pharmacogenomic findings.
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	Quantify the proportion 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).

Other

Measure	Time frame	Description
Number of patients who received a CoM (as defined above) compared to a contemporaneous matched (2:1) UC group assessed at patient index date (Return of Results), 3 months (90 days), and 6 months (180 days) thereafter.	Within 3 months (90 days) and 6 months (180 days) after Return of Results	Quantify the proportion of patients who received a CoM as defined above compared to a contemporaneous matched (2:1) UC group assessed at patient index date (Return of Results), 3 months (90 days), and 6 months (180 days) thereafter.

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026