CardioSeq: Impact of WGS in Individuals With CVD

N/AActive Not RecruitingNCT05656183

Illumina, Inc.1,500 enrolled

Overview

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.

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 Type

INTERVENTIONAL

Allocation

Purpose

SCREENING

Masking

NONE

Enrollment

1,500

Conditions

Cardiovascular Diseases

Interventions

TruGenome Cardiovascular Disease testDIAGNOSTIC_TEST

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Henry Ford Health System

Detroit, Michigan, United States

Outcomes

Primary Outcomes

Number of patients who receive a new monogenic cardiovascular disease finding

Quantify the proportion of patients who receive a new monogenic cardiovascular disease finding from the TruGenome CVD test

Time frame: 42 Months

Secondary Outcomes

Number of patients who receive any monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings.

Quantify the proportion of patients who receive monogenic cardiovascular disease, cardiovascular risk allele and/or cardiovascular pharmacogenomic findings.

Time frame: 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).

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).

Time frame: Within 3 months (90 days) and 6 months (180 days) after Return of Results

Data from ClinicalTrials.gov

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