CardioSeq: Impact of WGS in Individuals With CVD

NCT ID: NCT05656183

Last Updated: 2024-04-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

NA

Total Enrollment

1500 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-01-06

Study Completion Date

2025-06-30

Brief Summary

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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

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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.

Conditions

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Cardiovascular Diseases

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

SCREENING

Blinding Strategy

NONE

Study Groups

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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.

Group Type EXPERIMENTAL

TruGenome Cardiovascular Disease test

Intervention Type DIAGNOSTIC_TEST

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

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TruGenome Cardiovascular Disease test

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.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Henry Ford Health System

OTHER

Sponsor Role collaborator

Illumina, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Henry Ford Health System

Detroit, Michigan, United States

Site Status

Countries

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United States

Other Identifiers

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ILMN-007

Identifier Type: -

Identifier Source: org_study_id

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