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Category: genomics

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

a pedigree with hearts displayed 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 ,

Is pharmacogenetic-guided treatment cost-effective? No one size fits all!

a pill filled with DNA and dollar signs around

A recently published article by M. Verbelen and colleagues in The Pharmacogenomics Journal is called, “Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet?” As Betteridge’s law of headlines states, any headline that ends in a question mark can be answered by the word No. Regrettably, although that article presents useful information, it ends up by Read More >

Posted on by Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities and W. Dave Dotson, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags

Integrating Genomics into Public Health Surveillance: Ushering in a New Era of Precision Public Health

a crowd of people standing on sequincing and DNA and data graphs

Public health surveillance has been defined as “the ongoing systematic collection, analysis, and interpretation of data, closely integrated with the dissemination of these data to the public health practitioners, clinicians, and policy makers responsible for preventing and controlling disease and injury.” Surveillance provides an essential scientific foundation for both clinical and public health practice. In Read More >

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

Whole Genome Sequencing for All? The Quest for Evidence Continues

a clinician holdig a stethoscope with DNA on the side

In 1999, Dr. Francis Collins predicted what the practice of genomic medicine in primary care may look like in 2010. He used a hypothetical patient named John, a 23-year-old man with high serum cholesterol. Based on his father’s history of early onset heart disease, John underwent a battery of genetic tests. He was found to Read More >

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention2 CommentsTags

Precision Public Health: Harnessing the Power of the Human Microbiome

four figures holding puzzle pieces standing on microbiome cells and DNA on the sides

The discovery of antibiotics by Sir Alexander Fleming in 1928 revolutionized medicine. However, antibiotics cannot differentiate between the beneficial bacteria that help keep us healthy and the pathogens that make us sick. Like a wildfire, antibiotics wipe out all bacteria. Consequently, we have been altering our microbiomes for almost a century, putting ourselves at risk Read More >

Posted on by Alison Laufer Halpin, National Center for Emerging and Zoonotic Infectious Diseases (NCEZID)Leave a commentTags

Are there any shortcuts on the translation highway to genomic medicine?

a long curved road with a curve caution sign and the road is paved with ATCG

Note to our readers: A modified version of this blog post has been published in JAMA. Rapid advances in genomics have led to a new era of precision medicine, resulting in a dramatic increase in the number of genomic tests available for research and clinical practice. As of April 18, 2017, the Genetic Testing Registry, Read More >

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

Genome Sequencing for Healthy Individuals? Think Big and Act Small!

a crowd of people with a magnifying glass on a few and DNA

In a 2013 blog post, we asked the question: “When should we all have our genomes sequenced?” At that time, we concluded that the time is not right and that “if we want to use whole genome sequencing in the course of regular preventive care and health promotion, research should be conducted to evaluate its Read More >

Posted on by Muin J. Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention, and Greg Feero, guest blogger, Maine Dartmouth Family Medicine ResidencyLeave a commentTags ,

Direct to Consumer Genetic Testing: Think Before You Spit, 2017 Edition!

test tubes and DNA

As people have become more proactive in managing their health, personal genomic direct to consumer (DTC) testing has become more popular over the past decade. These tests allow consumers to access information about genetic predispositions and response to chemicals and medications without the involvement of healthcare providers.  With the expanding landscape of such testing, the Read More >

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention3 CommentsTags ,

Genomics and Population Health Action: Join the Collaboration

a crowd forming two puzzle pieces coming togehter with DNA on the ground

In February 2017, I attended a one-day meeting of leaders of the Genomics and Population Health Action Collaborative (GPHAC). This group of more than 40 organizations and individuals is dedicated to the integration of genomics into clinical and public health programs to save lives and prevent disease. (Details on GPHAC and its membership can be Read More >

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

Your Genes, Your Health: The Importance of Genetic Literacy and Education

a group of people from kinder garden to health professionals standing behind a table of building blocks made out of ATCG and the word GENES and DNA

In March 2017, the National Human Genome Research Institute, in collaboration with the Foundation for the NIH and several private sector organizations, held an important strategic planning meeting in Bethesda, the Genetic Literacy, Education and Empowerment (GLEE) Initiative. [PDF 415 KB] Advances in genomics over the past two decades are leading to opportunities to use Read More >

Posted on by Muin J. Khoury MD, PhD, Katherine Kolor, PHD, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags , ,
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