Genome-wide association studies (or GWAS) are large-scale genetic investigations of human disease that measure simultaneously hundreds of thousands of genetic variants scattered throughout the human genome. GWAS burst onto the scientific scene in the mid 2000’s. Propelled by technological advances and falling prices, GWAS have revolutionized the search for genetic influences on common diseases of major public health significance. Since 2005, >1,600 publications have identified > 2,000 replicated genetic associations with > 300 common human diseases and traits.
A blog devoted to discussing best practices and questions about the role of genomics in disease prevention, health promotion and healthcare.
Selected Category: genomics
August 1st, 2013 10:26 am ET - Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention
June 27th, 2013 12:51 pm ET - Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention
In May 2013, I attended and presented at the “Why We Can’t Wait Conference to Eliminate Health Disparities in Genomic Medicine.” The conference was organized by the University of Miami and Stanford University, with attendees and speakers from academia, consumer organizations, government agencies, public health, clinical practice, and the private sector. A key rationale for the event is the increasing evidence that the promise of genomic medicine is not being realized equitably, highlighting the importance of dedicated resources and partnerships to address disparities in research and health care (e.g. by race/ethnicity, income and socioeconomic status).
A Public Health Genomic State-by-State Clickable Map: Accelerating Implementation of Genomics Applications to Improve Population Health
June 20th, 2013 3:21 pm ET - Guest Blogger
Karen Greendale, MA, CGC, McKing Consulting, Contractor for the Office of Public Health Genomics, Centers for Disease Control and Prevention
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 their state to extend coverage consistent with the U.S. Preventive Services Task Force 2005 BRCA recommendation to over 6 million Michigan residents. Connecticut is one of several states where the state health department has used cancer registry data to identify thousands of state residents who might benefit from genetics services for hereditary breast, ovarian, colorectal and other cancers based on evidence-based recommendations.
New Products from the EGAPP Working Group: Further Development of Evidence Review Methodology and More Recommendations in Genomic Medicine
May 30th, 2013 11:01 am ET - Michael P. Douglas, Office of Public Health Genomics, Centers for Disease Control and Prevention
W. David Dotson, Office of Public Health Genomics, Centers for Disease Control and Prevention
- The EWG has four new publications since the last meeting:
- Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?, [PDF 420.48 KB] recently published in Genetics in Medicine;
- Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?, [PDF 446.72 KB] recently published in Genetics in Medicine;
- Description and pilot results from a novel method for evaluating return of incidental findings from next generation sequencing technologies [PDF 656.44 KB], recently published in Genetics in Medicine; and
- Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update [PDF 367.61 KB], recently published in Genetics in Medicine.
May 23rd, 2013 12:26 pm ET - Marta Gwinn, Consultant, McKing Consulting Corp, Office of Public Health Genomics, Centers for Disease Control and Prevention
The proposed Advanced Molecular Detection initiative aims to help CDC apply molecular sequencing and bioinformatics techniques to solving outbreaks and controlling infectious diseases. This approach has been called “genomic epidemiology”—using pathogen genome sequences to detect emerging diseases, assess their potential virulence and resistance to antibiotics, and monitor their spread in populations. The focus is on pathogen genomes, applying advances in molecular and bioinformatics methods first developed for human genome research.*
Each week, OPHG’s Genomics & Health Impact Update includes a list of articles on genomics published by CDC scientists. These articles are selected from the latest edition of Science Clips, an online bibliographic digest that CDC shares weekly with the public health community and the public. What genomic studies are CDC public health scientists doing—and which genomes are they writing about? We went to the archives to find out.
In 2012, Science Clips listed 178 articles on genomics with one or more CDC authors. Of these, 111 (62%) concerned bacterial, viral, fungal, or parasite genomes; 61 (34%) concerned the human genome; and 6 (3%) concerned genomes of other animal species (Figure).
April 11th, 2013 2:51 pm ET - Guest Blogger
W. Gregory Feero, MD, PhD, Maine Dartmouth Family Medicine Residency
It has been said that the folks at the National Human Genome Research Institute (NHGRI) never pass up the chance for well-deserved celebration – and I should know, I was one of them. Probably at least a few readers have noticed that the Human Genome Project (HGP) has celebrated a number of milestones and anniversaries over the years – and 2013 is no exception. April 14, 2013 marks the 10th anniversary of the completion of the Human Genome Project, and as one might expect, NHGRI has a number of commemorative events planned. Though most individuals outside of the genomics research community think only of the most obvious output of the HGP – the actual linear sequence of A’s, G’s, C’s and T’s that make up the human blueprint , the project comprised much more than that. Additional components included sequencing of several important model organisms, creation of maps of the human genome that have greatly facilitated the work of discovering mutations causal of disease, and development of technologies to make genomics research cheaper, faster, and more accurate. Reflecting on the last decade of progress in basic and biomedical research made possible by genomics, it is not too difficult to conclude that the HGP was a great public investment in science made in the second half of the 20th century.
March 28th, 2013 3:01 pm ET - Scott Bowen, Office of Public Health Genomics, Centers For Disease Control and Prevention
Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention
Sequencing is No Longer a Sleeping Controversy
In the classic Disney version of the fairy tale, Sleeping Beauty is hidden in the woods to protect her from the knowledge of an evil curse… but when she later pricks her finger on a spinning wheel, she falls under a fairy’s spell…
Unlike the mythical magic of centuries old stories, modern science is changing our lives in ways that are anything but fantasy. Advances in whole genome sequencing (WGS) promise to reveal fundamental information about our risks for various diseases. By definition WGS includes an enormous amount of data: six billion base pairs in a human’s genome. Unfortunately, we do not yet know what to do with the great majority of these data points, a fact that will become even more important in the next decade. For as sequencing technology becomes less and less expensive, it could soon be more economical and practical to simply conduct WGS rather than individual tests that assess one or a few genetic variants.
Implementing Evidence-based Genomics Recommendations at the Intersection of Public Health and Healthcare
March 21st, 2013 3:05 pm ET - Guest Blogger
Jenna McLosky and Debra Duquette, Michigan Department of Community Health
Beverly Burke and Joan Foland, Connecticut Department of Public Health
We take the opportunity of March 22, 2013, designated as Lynch Syndrome Awareness Day by 13 U.S. state governors and counting, to highlight state public health genomics programs that are taking innovative approaches to implement evidence-based genomic testing recommendations for hereditary cancer syndromes, including Lynch syndrome.
February 28th, 2013 2:32 pm ET - Michael P. Douglas, Office of Public Health Genomics, Centers for Disease Control and Prevention
W. David Dotson, Office of Public Health Genomics, Centers for Disease Control and Prevention
The independent EGAPP working group (EWG) held its 26th meeting on February 11-12, 2013 at the CDC campus in Atlanta. Highlights included:
- Three EWG recommendation statements on the validity and utility of genetic tests are pending publication on:
- KRAS, BRAF and other markers involved in EGFR signaling, which are used to inform choice of therapies for metastatic colorectal cancer, recently published in Genetics in Medicine;
- Genetic risk assessment for type 2 diabetes in general and high-risk populations, recently accepted to Genetics in Medicine ; and
- PCA3 testing in the diagnosis and management of prostate cancer based on an evidence review, conducted through the AHRQ Effective Health Care Program (EHC), is being finalized and prepared for peer review.
February 21st, 2013 1:02 pm ET - Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention
Scientific and implementation challenges
Population screening for disease is a concept that has been around for many decades. Its main purpose is early detection and treatment of asymptomatic disease, or risk assessment and prevention of future disease, in order to improve health outcomes in individuals and populations. Examples include mammography in breast cancer screening and colonoscopy in colorectal cancer screening. Principles and criteria for population screening programs have been developed by many organizations and have evolved over time. These principles ensure that the benefits of screening programs outweigh potential harms such as overdiagnosis, inappropriate interventions and anxiety.
- colorectal cancer
- evidence-based medicine
- family history
- genetic counseling
- heart disease
- personal genomics
- personalized medicine
- Population screening
- public health
- whole genome sequence
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