CardioSeq: Impact of WGS in Individuals With CVD

Illumina

Status: Active, not recruiting

Conditions: Cardiovascular Diseases

Treatments: Diagnostic Test: TruGenome Cardiovascular Disease test

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT05656183

ILMN-007

Details and patient eligibility

About

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.

Full 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.

Enrollment: 1,500 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No 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

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1,500 participants in 1 patient group

Single Arm

Experimental group

Description:

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.

Treatment:

Diagnostic Test: TruGenome Cardiovascular Disease test