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Category: familial hypercholesterolemia

Stimulating Implementation Science in Genomics and Precision Medicine for Heart, Lung, Blood and Sleep Diseases: The Case of Familial Hypercholesterolemia

a heart puzzle with a person holding data charts

Implementation science is an emerging field of scientific inquiry that has been increasingly applied to genomics and precision medicine. In our recent papers on the state of scientific publications and NIH funding, we have identified areas of growth and limitations of the field and called for more training and workforce development for implementation science in Read More >

Posted on by Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, and George Mensah, Center for Translation Research and Implementation Science, National Heart, Lung, and Blood InstituteLeave a commentTags ,

Familial Hypercholesterolemia is Common and Undertreated in the United States

A graph depicting the prevalence of documented statin and self-reported lipid lowering medication use

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that significantly increases the risk of atherosclerotic cardiovascular disease and premature deaths from heart attacks and stroke. The national prevalence of FH and rates of screening, awareness, and treatment with statins among individuals with FH and other causes of high lipid levels (dyslipidemias) remain largely unknown. Read More >

Posted on by Emily M. Bucholz, Boston Children’s Hospital, Boston, MA; Angie Mae Rodday, Tufts Medical Center, Boston, MA; Katherine Kolor and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA; Sarah D. de Ferranti, Boston Children’s Hospital, Boston, MALeave a commentTags

Cascade Screening for Familial Hypercholesterolemia in the United States: Public Health Impact and Challenges

a predigree with hearts on a US map

This post is a summary of our recently published paper in JAMA and outlines the public health impact and challenges for cascade screening for Familial Hypercholesterolemia (FH) in the United States.   What is the public health impact of cascade screening for FH? FH is a dominantly-inherited genetic disorder affecting about 1 in 250 people and Read More >

Posted on by Joshua W. Knowles, guest blogger, Division of Cardiovascular Medicine and Cardiovascular Institute Stanford University, California; Daniel J. Rader, guest blogger, Department of Human Genetics, University of Pennsylvania, Philadelphia, PA; and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control & Prevention, Atlanta, GALeave a commentTags ,

What Gets Measured Gets Done: Public Health Progress in Familial Hypercholesterolemia

a heart with a graph and people in the foreground

Just 4 years ago, one of us (MJK) co-chaired the Familial Hypercholesterolemia (FH) Foundation’s first FH Global Summit: Awareness to Action held in Annapolis, Maryland. The Summit brought together people from academia, government, the private sector, clinicians, as well as patients with the ambitious goals of raising awareness of FH, identifying key knowledge gaps, and Read More >

Posted on by Joshua Knowles MD, guest blogger, Stanford University School of Medicine and Muin J. Khoury MD, PhD, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia1 CommentTags

Public Health Genomics in Action: Reducing Morbidity and Mortality from Familial Hypercholesterolemia

Discussion Panel at the Familial Hypercholesterolemia Summit

In September, 2013, I participated in the International Familial Hypercholesterolemia (FH) Summit  in Annapolis, Maryland. The event was sponsored by the FH Foundation, a patient-centered organization formed in 2011 to raise awareness about the condition and to develop actions for saving lives of patients and families with FH.  The meeting brought together, from the US Read More >

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags , , ,

A Public Health Genomic State-by-State Clickable Map: Accelerating Implementation of Genomics Applications to Improve Population Health

US Map

In recent years, public health programs in several states have used innovative approaches to implement evidence-based genomic testing recommendations in an effort to improve health outcomes for people at increased hereditary risk for breast, ovarian, colorectal and other cancers.  For example, the Michigan Department of Community Health [PDF 1.04 MB] has partnered with payers in Read More >

Posted on by Karen Greendale, MA, CGC, McKing Consulting, Contractor for the Office of Public Health Genomics, Centers for Disease Control and Prevention1 CommentTags , , , , , , ,
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