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Category: genomics

Universal Screening for Lynch Syndrome: Can Tumor Sequencing Have a Larger Public Health Impact on Treatment and Prevention of Colorectal Cancer?

Universal Screening with an arrow labeled Lynch Syndrome and DNA below it

Lynch syndrome (LS) is the most common hereditary syndrome associated with increased risk of colorectal cancer (CRC), accounting for about 3% of CRC patients. LS is a dominantly inherited condition with mutations in several mismatch repair (MMR) genes. Persons with LS are also at increased risk for endometrial and other cancers. Lynch syndrome affects 1 Read More >

Posted on by Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, and Heather Hampel, Comprehensive Cancer Center, Ohio State University, Columbus, OhioLeave a commentTags , ,

Evaluating the Impact of Precision Medicine: How Ivacaftor Reduces Hospitalizations of Patients with Cystic Fibrosis

a blister pack of tablets and thee blue tablets out on the table

Precision medicine takes into account individual factors in treating disease, targeting interventions to patients that can benefit the most. Population-based studies evaluating precision medicine approaches are important to determine whether the field can fulfill its promise for improved health outcomes. A prime example of precision medicine is ivacaftor, a small molecule drug originally developed to Read More >

Posted on by Ridgely Fisk Green, Office of Public Health Genomics and Scott Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and PreventionLeave a commentTags ,

Tracking the Translation of Genomic Discoveries to Population Health Benefits: Connecting the Dots from Investment to Population Health Information

a file folder labeled Grants with DNA

In March 2018, the CDC Office of Public Health Genomics launched the Grant Database (GDB), an extension of the Public Health Genomics Knowledge Base (PHGKB). GDB “connects the dots” between funding investment and publications on translation, implementation, and evaluation of population health impact of genomics and precision medicine. We launched PHGKB in 2016, as an Read More >

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

Genomics and Population Health Action: The Collaboration Continues!

an image of the GPHA Roundtable members from the 2017 meeting

In March 2018, I attended the third annual meeting of leaders of the Genomics and Population Health Action Collaborative (GPHAC). GPHAC was formed late in 2015 under the auspices of the National Academy of Medicine’s Roundtable on Genomics and Precision Health to foster collaboration of more than 50 diverse stakeholders, including state public health programs, Read More >

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

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 , ,
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