SOUTH PLAINFIELD, N.J., May 23, 2017 (GLOBE NEWSWIRE) -- Admera Health, a molecular diagnostics company developing comprehensive genetic tests for risk assessment and early diagnosis of cardiovascular diseases, and pharmacogenomics, announced today that they presented a health economics model titled: "Cost Effectiveness Model for Genomic Screening for Familial Hypercholesterolemia Mutations in Populations with High LDL Cholesterol Levels" at the 2017 National Lipid Association's Scientific Sessions in Philadelphia. The work was authored by Robert D. Fishberg MD, Qingxuan Song PhD, Zeil Rosenberg MD, and Danielle Zamarelli RN.
Familial hypercholesterolemia (FH) is generally an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis), and leads to an increased risk for premature cardiovascular disease (CVD).
Although atherosclerosis due to FH appears primarily in adulthood, the genesis can be traced back as early as childhood. However, FH is one of the most underdiagnosed disorders based upon not only its general lack of awareness among pediatricians and the general public but also its late-age recognition: FH is often recognized only after atherosclerosis has occurred and genetic testing is used.
Dr. Fishberg, the lead author of the study, commented, ?We know that people with high LDL and pathogenic FH mutations are at significantly higher risk for coronary artery disease when compared to those with high LDL but no FH mutation. Genomic testing for FH makes it possible for early detection, which can lead to earlier treatment and hopefully prevent acute myocardial infarctions(MI), strokes and death. Once we know the actual genetic mutation we can then test first degree relatives who may also be at risk for a future event. In this presentation, we demonstrated how using genomic testing and then ?cascade screening' of relatives could theoretically prevent many MIs and result in millions of dollars saved.?
Fishberg, Song, Rosenberg, et al. utilized Admera Health's AtheroGxOnetm panel for the detection of diseases responsible for early atherosclerosis. The data included 81 patients, 12 and 24 of which tested positive for LDLR and APOE variants, respectively, with the former being pathogenic for FH. The researchers discovered FH positive mutations in patients as young as 28 years old, demonstrating that genomic screening in populations with high LDL cholesterol levels can effectively detect FH at an early stage.
The investigators concluded that the risk of CAD for patients with high LDL can be dramatically reduced if early FH detection and treatment are undertaken. We demonstrate that performing genomic screening on individual patients with high LDL is more than 10X cost efficient than waiting until later stage treatment for CAD. For every 1,000 people with high LDL and suspected FH tested, the potential cost saving would be around $6 million.
?We are excited about the collaboration study between Admera Health and Associates in Cardiovascular Disease, one of the most comprehensive cardiology practices in all of New Jersey. We hope this model, and subsequent work, which clearly demonstrates the value of early FH testing, leads to greater patient access to needed treatment,? said Guanghui Hu, PhD, President and CEO of Admera Health.
About Admera Health
Admera Health is a CLIA-certified and CAP-accredited advanced molecular diagnostics company focused on personalized medicine, non-invasive cancer testing, digital health, and providing research use only services. Research and development efforts are dedicated to developing cutting-edge diagnostics that span the continuum of care. Utilizing next generation technology platforms and advanced bioinformatics, Admera Health seeks to redefine disease screening, diagnosis, treatment, monitoring, and management through its innovative, personalized solutions. It is our mission to deliver transformative, valuable solutions for patients, physicians, and clinical researchers. We are committed to improving the health and well-being of our global community through the direct delivery of personalized, medically actionable results.
About Associates in Cardiovascular Disease
Associates in Cardiovascular Disease is a large full service cardiology group with offices in New Jersey located in Springfield, New Providence, Clark, Milburn, Warren and Scotch Plains.
Associates in Cardiovascular Disease is a proud member of Atlantic Medical Group. Atlantic Medical Group is comprised of more than 600 community-based health care specialists, and provides patients and their families a professional and consistent patient care experience. Physicians in Atlantic Medical Group are affiliated with Atlantic Health System's nationally and regionally ranked hospitals ? Morristown Medical Center, Overlook Medical Center, Newton Medical Center and *Chilton Medical Center, as well as *Goryeb Children's Hospital.
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