Hyperlipidemia and Cardiovascular Diseases
Hypercholesterolemia, elevated Lp(a) and hypertriglyceridemia are major risk factors that contribute to the development of atherosclerotic cardiovascular disease (ASCVD). Familial hypercholesterolemia (FH), particularly, is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infraction. Individuals with FH may also develop corneal arcus at a younger age than those without FH. Severe elevation in triglycerides (HTG) and Lp(a) also increases the risk for atherosclerotic cardiovascular disease. Per CDC data, finding and treating FH early reduces coronary heart disease risk by 80%. Clinically only about 10% of the patients with these dyslipidemia conditions are diagnosed. Improving diagnosis with the potential for precision therapeutics will greatly reduce the ASCVD risks for these patients cost-effectively.
What Are GBinsight Dyslipidemia Tests?
A strategic objective of precision medicine is to tailor preventive and therapeutic approaches that account for the functional differences amongst patients. GBinsight genetic panels are designed to help researchers and clinicians identify the genetic underpinnings of disease susceptibility and focus therapies based on knowledge of the underlying biology. GBinsight panels help to facilitate research on the mechanics, clinical efficacy and cost-effectiveness of translating genetic discoveries into the clinical setting. GBinsight Dyslipidemia panels help to diagnose and realize the promise of precision medicine for patients with increased ASCVD risks.
Scientists at GB HealthWatch established a proprietary and comprehensive clinical database and designed specific genetic testing panel options to analyze the complex and heterogeneous genetic landscapes that underlie cardiometabolic diseases. Both common GWAS variants and rare coding and splicing variants are analyzed in a single next-generation DNA sequencing (NGS) assay. Otogenetics validated GBinsight tests and is the only clinical laboratory with the capacity for GBinsight clinical dyslipidemia testing.
The testing options for GBinsight Dyslipidemia testing are:
- GBinsight Familial Hypercholesterolemia testing
- GBinsight Familial Hypertriglyceridemia testing
- GBinsight Familial Hyperlipidemia monogenic testing.
- A polygenic risk score for ASCVD could be interpreted if ordered for patients who tested negative or positive for monogenic interpretations using the proprietary clinical databases.
What is GBinsight Familial Hypercholesterolemia Testing?
GBinsight Familial Hypercholesterolemia (FH) monogenic testing includes LDLR gene (SNPs, Indels, Del/Dup), APOB, APOE, PCSK9, and LDLRAP1. An additional polygenic risk score can be reported if ordered based on the comprehensive Dyslipidemia gene panel (140 genes) analysis.
What is GBinsight Familial Hypertriglyceridemia Testing?
GBinsight Familial Hypertriglyceridemia (FTG) monogenic testing includes LPL gene, APOA5 gene, APOC2 gene, APOE gene, GPIHBP1 gene, and LMF1 gene. An additional polygenic risk score can be reported if ordered based on the comprehensive Dyslipidemia gene panel (140 genes) analysis.
What is GBinsight Familial Hyperlipidemia Testing?
GBinsight Familial Hyperlipidemia monogenic testing includes LDLR gene, APOB gene, PCSK9 gene, LDLRAP1 gene, LPL gene, APOA5 gene, APOC2 gene, APOE gene, GPIHBP1 gene, and LMF1 gene. An additional polygenic risk score can be reported if ordered based on the comprehensive Dyslipidemia gene panel (140 genes) analysis.
What is the Advantage of GBinsight Dyslipidemia Testing?
Due to the complexity and multifactorial / polygenetic nature for most of the familial hyperlipidemia cases, nearly 90% of people with FH are undiagnosed, which increases their risk of cardiovascular diseases up to 20-fold, if left untreated. FTG are similarly inadequately diagnosed. A genetic testing combining the monogenic and polygenic approaches is needed to address the majority of the cases that could be treated if diagnosed accurately to prevent the life threatening cardiovascular events.
The advantage of the GBinsight testing is exemplified in a multi-center study presented at American College of Cardiology (ACC) 2021 meeting (https://www.abstractsonline.com/pp8/#!/9228/presentation/13717) and the study presented at the National Lipid Association meeting (https://www.gbhealthwatch.com/gbinsight/publication-gbinsight-concordance.php). For 497 FH patients, the diagnosis rate is 80% (38% monogenic and 42% polygenic risk). For 86 HTG patients, the diagnosis rate is 73% (36% monogenic and 37% polygenic risk). For 325 Lp(a) patients, the diagnosis rate is 82%.
The high sensitivity of the GBinsight tests enables the physicians to tailor precision therapeutics to lower lipid and reduce coronary artery disease risk. The clinical value of the testing for clinical management in successful management of hyperlipidemia to prevent ASCVD is showcased in patient cases by leading physicians in cardiology and lipid (https://www.gbhealthwatch.com/gbinsight/gbinsight-webinars.php). The tailored therapeutics has produced better healthcare outcomes as told by patients (https://www.gbhealthwatch.com/gbinsight/patient-stories.php).