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Genomic Medicine Year in Review 2020: Population-wide Implementation Research Has Arrived
Advances in genomic medicine continue at a steady pace. In a December 2019 paper, The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) identified 10 papers with the most significant advances in the field. In our 2019 end of the year blog. we featured 5
Posted on by15 Years of Genome-wide Association Studies: What’s the Public Health Impact?
Genome-wide association studies (GWAS) test thousands or millions of genetic variants scattered throughout the human genome for association with human traits or diseases. GWAS burst onto the scientific scene in 2005 and have been enabled by technological advances and falling prices. A recent commentary in Nature Communications summarized the state of the science: To date,
Posted on byHappy Thanksgiving 2020: Family and Family Health History Are As Important As Ever
This Thanksgiving might not look the same as the ones before it, but some things haven’t changed. Even if you can’t see your loved ones in person, Thanksgiving is still a great time to talk to your family members about your family health history. Having one or more family members with a disease can mean
Posted on byA New Vision for Using Genomics to Improve Health: An Expanded Role for Public Health
The National Human Genome Research Institute (NHGRI) recently published a new strategic vision 2020 to identify research priorities and opportunities in human genomics for improving health. The framework includes four main areas: guiding principles and values, a robust foundation for genomics, breaking down barriers that impede progress, and compelling research projects. Since the completion of
Posted on by 1 CommentGenomic Medicine is Here: We Need More Data on Implementation and Outcomes
The use of genomic tests in clinical research and practice continues to accelerate in the United States and around the world. For almost a decade, the Genetic Testing Registry (GTR) at the National Institutes of Health has continued to track the growth and development of genomic tests. As of October 28, the GTR lists 76,835
Posted on by 1 CommentPrecision Medicine in Action: How can we make cascade screening for hereditary conditions work best in the real world?
If someone in your family were diagnosed with a genetic condition, would you want to be tested for that condition as well? For some disorders, like Huntington’s disease, for which there are no means available for prevention or cure, the question can be extremely difficult to answer. However, with many other conditions (for example familial
Posted on byAre We Ready for Population Screening for Hereditary Hemochromatosis?
Hereditary Hemochromatosis (HH) is an inherited iron storage disorder in which the body builds up too much iron, damaging tissues and organs. In most people, HH is caused by two copies of a specific change (mutation) in the HFE gene which is most commonly found in people of European ancestry. In the United States, over
Posted on by 1 CommentArtificial Intelligence, Public Trust, and Public Health
As a data-driven agency, CDC has always had highly skilled statisticians and data scientists. As part of the Data Modernization Initiative, CDC is supporting strategic innovations in data science using artificial intelligence and machine learning (Ai/ML). Ai/ML is the practice of using mathematics with computers to learn from a wide range of data and make
Posted on byThe Road Ahead for Genomics Research: From Technology to Population Health Impact
We often reflect on the promise, progress and challenges in the translation of genomics research into population health benefits. A recent commentary in Nature Reviews Genetics featured 12 key scientific challenges and opportunities in the field. Leading scientists took stock of the current state of science and discussed needed research in the next few years
Posted on byThe Long Road to Population-based Genomic Screening
Since 2012, the CDC Office of Genomics and Precision Public Health (OGPPH) has identified three autosomal dominant conditions for which there exist evidence-based recommendations to prevent morbidity and mortality from either cancer or heart disease. Using our evidence-based framework, we have collectively labeled the following conditions as tier 1 genomic applications: 1) hereditary breast and
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