NCT05656183

CardioSeq: Impact of WGS in Individuals With CVD

CardioSeq: A Prospective, Single-Center, Open-label Study to Evaluate the Impact of Whole Genome Sequencing (WGS) in Individuals With Cardiovascular Disease

• Status: Active Not Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 1,500 (estimated)
• Sponsor: Illumina, Inc. · Industry
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Cardiovascular Diseases

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	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.

Timeline

• Start date: 2023-01-06
• Primary completion: 2024-12-01
• Completion: 2025-06-01
• First posted: 2022-12-19
• Last updated: 2024-04-30

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated device study