Whole Genome Sequencing for Cardiovascular Disease

Overseen By Keisha Robinson

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Illumina, Inc.

Disqualifiers: Genetic cardiovascular disease, Chemotherapy, Renal disease, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

Duration: 42 months

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial examines how effectively the TruGenome Cardiovascular Disease test can aid doctors in understanding and treating heart diseases. The study aims to determine if this test provides more useful information on heart conditions compared to standard care. It is open to individuals with stable heart conditions, such as high cholesterol or heart failure, who have seen a heart doctor in the past year or plan to see one soon. As an unphased trial, this study offers a unique opportunity to contribute to groundbreaking research that could improve heart disease diagnosis and treatment.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.

What prior data suggests that the TruGenome Cardiovascular Disease test is safe?

Research shows that the TruGenome Cardiovascular Disease test is generally easy to handle. This test examines genes to assess the risk of heart problems, such as irregular heartbeats and high cholesterol. As a genetic test, it requires no medication or physical procedures, reducing the chance of side effects and making it safe for use.

Past studies have identified links between genes and heart issues, aiding doctors in making better decisions about patient care. Its safety is supported by its use in other heart health research. Although the FDA has not yet approved the test for diagnosing heart disease, its use in research shows promise and suggests safety. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about this trial because it explores whole genome sequencing (WGS) as a tool to revolutionize cardiovascular disease management. Unlike standard treatments that focus on symptoms or risk factors, WGS dives deep into a person's genetic code to uncover specific genetic markers associated with heart conditions. This approach has the potential to not only improve diagnostic accuracy but also tailor treatments to individual genetic profiles, which could lead to more effective and personalized care strategies. By identifying genetic predispositions, WGS could transform how cardiovascular disease is detected and managed, offering hope for earlier and more precise interventions.

What evidence suggests that the TruGenome Cardiovascular Disease test is effective for diagnosing cardiovascular disease?

Research has shown that the TruGenome Cardiovascular Disease test, provided to participants in this trial, effectively diagnoses and assesses the risk of heart conditions. This test examines 200 genes linked to heart diseases, identifying issues such as heart muscle disease and irregular heartbeats. Studies have found that it can uncover genetic factors often missed by standard care methods. By identifying these genetic components, the test enables doctors to customize treatments for better heart condition management. This approach could enhance patient outcomes by offering more personalized care. ^{1 2 3 6 7}

Are You a Good Fit for This Trial?

This trial is for adults over 18 with cardiovascular disease, including coronary or peripheral arterial disease, arrhythmias, dyslipidemia, heart failure or cardiomyopathy. They must have seen a cardiologist recently or have an appointment soon. It's not for those with known genetic heart diseases, severe cognitive issues, cancer treatment ongoing, very short life expectancy, bone marrow transplant recipients or end-stage renal disease.

Inclusion Criteria

I have a heart or blood vessel condition.

Must be able to read, understand, and sign an informed consent

I can walk and have seen or will see a heart doctor within a year.

Exclusion Criteria

I have a genetic condition linked to heart disease.

I am currently receiving chemotherapy for my cancer.

My kidneys are in the final stage of failure.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants undergo Whole Genome Sequencing (WGS) to assess diagnostic efficacy and impact on clinical management

42 months

Return of Results

Participants receive results from the WGS and any changes in management are assessed

Immediate

Follow-up

Participants are monitored for changes in management and outcomes at 3 and 6 months after Return of Results

6 months

What Are the Treatments Tested in This Trial?

Interventions

• TruGenome Cardiovascular Disease test

Trial Overview The study tests the TruGenome Cardiovascular Disease test to see if it's better at diagnosing and influencing treatment decisions in cardiovascular patients compared to standard care. Participants will be matched against others receiving usual care based on their electronic health records.

How Is the Trial Designed?

Group I: Single Arm Experimental Treatment 1 Intervention

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.

Who Is Running the Clinical Trial?

Illumina, Inc.

Lead Sponsor

Trials

25

Recruited

154,000+

Henry Ford Health System

Collaborator

Trials

334

Recruited

2,197,000+

Published Research Related to This Trial

In a review of 147 clinical trials for cardiovascular disease (CVD), only 1 trial (less than 1%) used a genomic biomarker prospectively to enhance patient selection, despite 32% of drug targets having relevant genetic evidence.

Almost half (46%) of the trials indicated exploratory use of biomarkers, suggesting a significant opportunity to improve drug development efficiency by better integrating genetic knowledge into clinical trial designs.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

An Overview of Genomic Biomarker Use in Cardiovascular Disease Clinical Trials. Adeniyi, O., Ramamoorthy, A., Schuck, R., et al.[2021]

The understanding of how genetic variations influence cardiovascular disease has significantly advanced in the past 15 years, highlighting the potential for precision medicine in improving patient care.

Despite the promise of genomics in managing cardiovascular diseases, challenges remain in implementing genomics-guided approaches due to the complexity of common diseases and a lack of familiarity among clinicians with genomic medicine.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Precision Cardiovascular Medicine: State of Genetic Testing. Giudicessi, JR., Kullo, IJ., Ackerman, MJ.[2022]

Citations

1. ncbi.nlm.nih.gov ncbi.nlm.nih.gov/gtr/tests/604271/

TruGenome Cardiovascular Disease Test - Clinical Genetic Test Test purpose: Help Diagnosis; Risk Assessment; Screening Conditions (4): Help Cardiomyopathy; Abnormal circulating lipid concentration; Cardiac arrhythmia more

2. clinicaltrials.gov clinicaltrials.gov/study/NCT05656183

CardioSeq: Impact of WGS in Individuals With CVD 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.

3. medrxiv.org medrxiv.org/content/10.1101/2024.05.06.24306379v1.full-text

Development of a comprehensive cardiovascular disease ... To ascertain TruGenomeTM CVD Test performance, the frequency of findings across the monogenic disease, risk allele, and PGx components was ...

4. clinicaltrial.be clinicaltrial.be/en/details/187976?per_page=20&recruiting=1&enrolling_by_invitation=1&active_not_recruiting=1&not_yet_recruiting=0&completed=0&only_recruiting=0&only_eligible=0

CardioSeq: Impact of WGS in Individuals With CVD - Clinic... The TruGenome Cardiovascular Disease (CVD) test which consists of an in-silico 200 gene cardiovascular disease panel, a further 4 genes with ...

5. ahajournals.org ahajournals.org/doi/10.1161/CIRCRESAHA.123.321999

Genomic Innovation in Early Life Cardiovascular Disease ... The current review focuses on innovations in the field of genomics and their applications to monogenic and polygenic CVD prevention and treatment.

6. ahajournals.org ahajournals.org/doi/10.1161/CIR.0000000000001304

Direct-to-Consumer Genetic Testing for Cardiovascular ... In many cases, direct-to-consumer genetic testing advertises information that could inform one's risk of heritable disease, including insight ...

7. ncbi.nlm.nih.gov ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001368.v4.p2

Cardiovascular Health Study - dbGaP Study - NIH Whole genome sequencing will be performed to contribute to multiple analyses, including cardiovascular disease risk factors, subclinical disease measures ...