CardioSeq: Impact of WGS in Individuals With CVD

Not Applicable

Active, not recruiting

• Conditions: Cardiovascular Diseases
• Interventions: Diagnostic Test: TruGenome Cardiovascular Disease test

• Registration Number: NCT05656183
• Lead Sponsor: Illumina, Inc.

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 Timeline

• Study First Submitted: 2022-12-08
• Study First Submitted QC: 2022-12-15
• Study First Posted: 2022-12-19
• Study Start: 2023-01-06
• Status Verified: 2024-04
• Last Update Submitted: 2024-04-26
• Last Update Posted: 2024-04-30
• Primary Completion: 2024-12
• Study Completion: 2025-06

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 1500

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Single Arm	TruGenome Cardiovascular Disease test	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.

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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).

Trial Locations

Locations (1)

Henry Ford Health System; 🇺🇸 Detroit, Michigan, United States