Clinical trial NCT05656183: CardioSeq: Impact of WGS in Individuals With CVD
Official title: CardioSeq: A Prospective, Single-Center, Open-label Study to Evaluate the Impact of Whole Genome Sequencing (WGS) in Individuals With Cardiovascular Disease
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: NA
Conditions: Cardiovascular Diseases
Lead sponsor: Illumina, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Henry Ford Health System
First posted: 2022-12-19
Enrollment: 1500
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SCREENING

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.

Eligibility criteria: 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

Primary outcomes:
measure: Number of patients who receive a new monogenic cardiovascular disease finding
timeFrame: 42 Months
Secondary outcomes:
measure: Number of patients who receive any monogenic cardiovascular disease, cardiovascular risk allele, or cardiovascular pharmacogenomic findings.
timeFrame: 42 Months
measure: 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).
timeFrame: Within 3 months (90 days) and 6 months (180 days) after Return of Results
Other outcomes:
measure: 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.
timeFrame: Within 3 months (90 days) and 6 months (180 days) after Return of Results
Locations:
city: Detroit
country: United States
facility: Henry Ford Health System
state: Michigan
Study officials:
References: