Hyperlipidemia and Cardiovascular Diseases GBinsight Familial Hypercholesterolemia
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?
GB HealthWatch is a pioneer in Lipid genetics and application of genetic data in assessing lipid dysfunctions and cardiovesicular diseases and risks. Otogenetics partnered with GB HealthWatch, and validated the GBinsight genetic testing.
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.
Otogenetics Validated GBinsight Tests
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.
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.
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
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:
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. The tailored therapeutics has produced better healthcare outcomes as told by patients.
Webinars
Leading Physician Experts on Genetics-Informed Management for Better Outcomes
Tara Dall, MD, FNLA*, Dr. Tara Dall is a third-generation primary care physician following in the footsteps of her father, Dr. James Dall and grandfather Dr. Glenn Dall. A graduate of The University of Wisconsin Madison medical school, Dr. Dall is board certified in clinical lipidology with focus on cardiometabolic disease since 2005. She has served as associate clinical professor at the Medical College of Wisconsin as well as a clinical preceptor for the Waukesha family practice residency program to provide a lipid clinic experience for medical trainees.
In the Webinar, Dr. Dall presents compelling case studies that showcase the synergy between lipid assessments and genetics for optimizing patient outcomes.
Robert Rosenson, MD, FACC, FACP, FAHA, FNLA*, Director of Metabolism and Lipids for the Mount Sinai Health System,. Dr. Rosenson is an internationally-recognized clinician and researcher having published pioneering work on inflammatory processes in atherogenesis and demonstrated that cardioprotective statins act, in part, by mitigating pro-inflammatory programs. Dr. Rosenson has led multiple international working groups on HDL biology and has received numerous awards in recognition of these contributions.
In the Webinar, Dr. Rosenson discusses:
- Evidence supporting Tier 1 guidelines for genetic analysis of familial hypercholesterolemia (FH) and family cascade screening.
- Using genetic analysis to differentially diagnose FH from related disorders.
- Added clinical value of genetic analysis for FH.
Webinar – Medical Director of the Lipid Clinic NYU: How genetic risk informs treatment
James Underberg, MS, MD, FACPM, FACP, FNLA. Dr. James Underberg is Medical Director of the lipid clinic at Bellevue Hospital, Assistant Professor, NYU Grossman School of Medicine. Past President of the National Lipid Association, and a leader in clinical lipidology.
In the webinar, Dr. Underberg discusses:
- Genetic causes of dyslipidemias including hypercholesterolemia, hypertriglyceridemia, elevated Lp(a)
- When to use genetic analysis
- Using genetic analysis to differentially diagnose lipid disorders
- How genetic risk informs treatment
Presented by Christie M. Ballantyne, MD, FACC, FAHA. Dr. Christie M. Ballantyne is the Chief of Cardiology, Director of the Center for Cardiometabolic Disease Prevention and Professor of Medicine and Human Genetics at the Baylor College of Medicine. Dr. Ballantyne has co-authored 900 peer-reviewed articles and textbooks on clinical lipidology and cardiovascular disease prevention and management. Dr. Ballantyne is globally recognized lecturer on the molecular genetics and medical management of cardiometabolic diseases.
In the Webinar, Dr. Ballantyne explores:
- Genetic architecture of severe hypertriglyceridemia (SHTG)
- The clinical utility of genetic testing in your patients with SHTG
- Employing genetics-informed management of your patients with SHTG
Michael H. Davidson, MD, FACC, FNLA, is the Director of the Lipid Clinic and Professor of Medicine at the University of Chicago, Pritzker School of Medicine. He is past president of the National Lipid Association (NLA). Dr. Davidson is a nationally recognized expert on lipid-lowering medicines and the reduction of coronary artery disease risk. Dr. Davidson has co-authored over 300 scholarly articles and books on lipid disorders, nutrition, and atherosclerosis and has coordinated more than 1,000 clinical trials in the preventive cardiology space.
Presented by Dr. Michael H. Davidson*, a leading voice in preventive cardiology.
Dr. Davidson demonstrates:
- The clinical utility of genetic testing in your patients
- When to use genetic testing for diagnosis
- How to use genetics to tailor precision therapeutics to your patients
Webiner – Physician inventor of “Agatston Score” (Coronary Artery Calcium Score): Genetics solves clinical dilemmas in atherosclerotic cardiovascular diseases (ASCVD) and ASCVD risk management
Dr. Arthur Agatston is a true pioneer in the study and practice of cardiovascular medicine. Dr. Agatston developed a non-invasive method of quantifying calcified atherosclerotic plaque using computed tomography (CT) that is known as the “Agatston Score” (also known as the coronary artery calcium score). Dr. Agatston has co-authored over 200 scientific papers and is a New York Times best-selling author on nutrition. Dr. Agatston is currently principal clinician and Chief Executive Officer at The Agatston Center for Preventive Medicine in South Florida. For his contributions to medicine, Dr. Agatston has been recognized by Time magazine as one of the “Time 100” most influential individuals.
Presented by the inventor of “Agatston Score” (also known as the Coronary Artery Calcium Score), Arthur Agatston, MD, FACC*.
Dr. Agatston explores:
- The role of HDL and HDL-C in atherosclerotic cardiovascular diseases.
- What influence does HDL dysfunction have on ASCVD risk?
- Does HDL dysfunction affect risk in people with familial hypercholesterolemia?