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10 results for public health genomics
Newborn screening in the genomics era: are we ready for genome sequencing?
Recent advances in next generation sequencing (NGS) could potentially revolutionize newborn screening, the largest public health genetics program in the United States and around the world. Over the last five decades, newborn screening has grown from screening for one condition (phenylketonuria (PKU)) in one state, to nationwide screening for at least 31 severe but treatable
Posted on by 2 CommentsFamily health history is a non-modifiable risk factor—or is it?
“I met three different women who had been tested [genetic testing for mutations in the BReast CAncer susceptibility (BRCA) genes] early on, in 1996, when the BRCA test first came out. They told me their family history story of mothers, aunts, uncles, and a dad who suffered from breast or ovarian or related cancers, and
Posted on byEpigenetics and Public Health: Why We Should Pay Attention
In September 2014, one of us (MJK) spoke on the topic of epigenetics at the Annual Meeting of the Association for State and Territorial Health Officials (ASTHO). ASTHO is a national organization representing public health agencies in the United States. ASTHO members formulate and influence public health policy and practice. In the midst of a
Posted on bySuicide, Family History, and Genomics
We must continue to search for new methods to effectively address the tremendous problem of suicide. Despite recent interest, genomics does not provide the solution today, but there is a lot that we can do now using an established public health approach to prevention. Millions were shocked by the news that comedian Robin Williams
Posted on byNobody is average but what to do about it? The challenge of individualized disease prevention based on genomics
Each week, Garrison Keillor shares with National Public Radio listeners the latest news from Lake Wobegon where “all the women are strong, all the men are good looking, and all the children are above average.” The concept of “average” is deeply rooted in our scientific analysis of all health related traits such as height,
Posted on byPublic Health Impact of Genome-Wide Association Studies: Glass Half Full or Half Empty?
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
Posted on byWhy We Can’t Wait: A Public Health Approach to Health Disparities in Genomic Medicine
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
Posted on byFrom Genetic Counseling in Individuals to Cascade Screening in Populations: An Emerging Role for Public Health Practice
There are more than 2500 diseases for which genetic testing is currently available. Most of these diseases are individually rare conditions but collectively affect millions of individuals and families worldwide. Genetic diseases are usually caused by mutations in one or a few genes that may confer a high risk of illness, disability and early death.
Posted on by 1 CommentEvidence Matters in Genomic Medicine—Round 3: Integrating Family Health History into Clinical Preventive Services
A new podcast from the CDC Expert Commentary Series on Medscape—Family Health History: Use It to Inform Preventive Services for Your Patients— describes how family health history can inform the delivery of preventive health services. The podcast presents three case studies based on recommendations of the US Preventive Services Task Force (USPSTF): screening for lipid
Posted on byWhat Gets Measured Gets Done: Genomics, Surveillance Indicators and Healthy People 2020
Public health surveillance indicators, such as those developed for the Healthy People initiative are useful for monitoring the development of genomic medicine in the United States. For several decades, Healthy People has established health benchmarks that are considered important metrics for tracking progress in health and healthcare in the United States.
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