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Genomics and Precision Health Posts

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

Leap of Faith or Smart Investment? Early Integration of Whole Genome Sequencing in Healthcare Systems

a doctor holding a stethoscope with a question mark and DNA in the background

Discovery science in genomic medicine has generally enjoyed longstanding large collaborations for data sharing and joint analyses. Synergies among collaborators has accelerated major advances in our understanding of the genetic basis of health and diseases. More recently, some of the same scientists have come together to aggregate data for more applied clinical research with NIH Read More >

Posted on by W. Gregory Feero et al, Maine Dartmouth Family Medicine Residency Program; Catherine A. Wicklund, Northwestern University Genetic Counseling Program, David Veenstra, Department of Pharmacy, University of Washington; Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

HLBS-PopOmics: NHLBI and CDC partner to launch a public health genomics knowledge base for heart, lung, blood, and sleep disorders

a screenshot of the commmon healht topics of HLBS-PopOmics

Timely and targeted dissemination of published research findings is an important step in accelerating the pace of turning discovery into health. To achieve this goal in human population genomics, the NHLBI has partnered with the CDC Office of Public Health Genomics (OPHG) to launch a heart, lung, blood, and sleep disorders knowledge base in population Read More >

Posted on by George A. Mensah, Center for Translation Research and Implementation Science, National Heart, Lung and Blood Institute, Wei Yu and Muin J. Khoury, Office of Public Health Genomics, Atlanta, GeorgiaLeave a commentTags , , , , , ,

Saving a Million Hearts: One Heart at a Time!

Million Hearts® logo

Cardiovascular disease (CVD), principally ischemic heart disease and stroke, remains the leading cause of U.S. deaths for men and women and all races and ethnicities in spite of major progress in its prevention and treatment. CVD is also the greatest contributor to racial disparities in life expectancy. In 2012, 120 public and private partners and Read More >

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

Dear John, There’s no point in waiting any longer. Let’s call it quits…

a Dear John letter being written with sequencing as the content

In 1999, Dr. Francis Collins, director of the Human Genome Project, provided a bold vision for what the practice of genomic medicine might soon look like. Collins described the case of a hypothetical man named “John,” a 23 year-old smoker living a decade into the future in 2010. “His substantial risk of contracting lung cancer Read More >

Posted on by Scott Bowen and Muin J, Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia4 Comments

Work in Progress: Classifying Evidence-based Genomic Applications for Practice and Prevention

applications by evidence tiers with 68 tier 1, 107 tier 2 and 7 tier 3

In our 2015 paper,“Prioritizing genomic applications for action by level of evidence: A horizon-scanning method,” we proposed a systematic scanning method that assigns genomic applications to “tiers” defined by availability of synthesized evidence. Because of the amassed evidence on the validity and utility of genomic tests and related technologies, we suggested that researchers, policy makers, Read More >

Posted on by W. David Dotson and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags , ,

What do women (and men) want? Parents weigh in on genetic testing for rare diseases in children

a block depicting a mother, a father and child holding hand with DNA

Genetic testing in children has traditionally focused on conditions with clinical actionability or utility. However, parents may want to know whether their child is at high risk of a rare disease even if a treatment doesn’t exist. A newly published article reports on a study conducted by researchers at RTI International and the University of Read More >

Posted on by Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,

Genomics and Obesity: We Need Both Population and Individualized Approaches in the Prevention and Management of Obesity

a person standing on a scale and a crowd of people with DNA overlayed

Obesity is a serious, global public health problem that has increased markedly in the last few decades. As of 2016, 795 million people were estimated to have been affected. Obesity is associated with leading causes of death worldwide—such as diabetes, cardiovascular disease, and cancer—making the search for effective weight management strategies a global priority. Obesity Read More >

Posted on by Muin J, Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia2 CommentsTags ,

The Impact of Family History on the Public Health Burden of Diagnosed Diabetes, Undiagnosed Diabetes and Prediabetes in the United States: Using Family History for Diabetes Control and Prevention

a multigenerational family with glucose strips and a person holding a glucose meter and DNA in the foreground

This blog post is a summary of our recently published paper in Genetics in Medicine. Type 2 diabetes is a major public health problem in the United States and globally. Among adults 20 years and older, 9.2% have diagnosed diabetes (DD), 3.1% have undiagnosed diabetes (UD), and 36% have prediabetes (PD), a major precursor for Read More >

Posted on by Ramal Moonesinghe, Office of Minority Health and Health Equity; Gloria L. A. Beckles, Division of Diabetes Translation, National Center for Chronic Disease Prevention and Health Promotion; Tiebin Liu, National Center on Birth Defects and Developmental Disabilities; Muin J. Khoury, MD, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags

Progress in Public Health Genomics Depends on Measuring Population Level Outcomes

DNA and a US map and a person pointing to a graph

Public health genomics is a relatively young field concerned with the effective and responsible translation of genomic science into population health benefits. In the past few years, the field has witnessed the emergence of several state public health genomics programs beyond the traditional domain of newborn screening. The field has focused on preventing disease and Read More >

Posted on by Debra Lochner Doyle, Screening and Genetics Unit, Washington State Department of Health, Kent, Washington; Mindy Clyne, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland; David Chambers, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland; Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags
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