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A New Public Health Assessment of the Disease Burden of Hereditary Hemochromatosis: How Clinically Actionable is C282Y Homozygosity?
This blog post is based on a recent paper by Grosse, Gurrin, Bertalli, and Allen in Genetics in Medicine. Hereditary hemochromatosis (HH) attributable to mutations in the HFE gene is the most common autosomal recessive disorder among adults of northern European origin. It occurs in 1 in 300 non-Hispanic whites in the United States. Approximately
Posted on byIntegrating Genomics into Public Health Surveillance: Ushering in a New Era of Precision Public Health
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
Posted on byYour Genes, Your Health: The Importance of Genetic Literacy and Education
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. Advances in genomics over the past two decades are leading to opportunities to use genomic information in
Posted on byPrecision Medicine and Public Health: Improving Health Now While Generating New Knowledge for the Future
In a previous post, I commented on the importance of a public health perspective to ensure the success of the proposed precision medicine large national research cohort. Here I offer additional thoughts on the need to balance short term public health gains with long term knowledge generation from this effort.
Posted on byThe Ultimate Selfie
Now within reach, our personal genomic sequence offers an incredible reflection of who we are, and great promise to improve human health, but there are serious concerns about embracing it too quickly. Empowered Consumers in the Era of Me If social media is any indication, we, like Narcissus of ancient myth, are surely self-obsessed creatures.
Posted on by 3 CommentsThe Success of Precision Medicine Requires a Public Health Perspective
The announcement of a new major US Precision Medicine initiative comes more than a decade after the completion of the Human Genome Project, the ambitious project that culminated in sequencing all 3 billion base pairs of our genome. Continuous improvement in the quality of sequencing, dramatic reduction in price, and ongoing advances in multiple sectors
Posted on by 1 CommentFamily 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 byIs Genomics Widening the Schism Between Medicine and Public Health?
In 2007, we published a paper entitled: “Will genomics heal or widen the schism between medicine and public health?” We explored the long standing split between medicine and public health and how the emergence of genomics and other technologies can affect it. The “schism” was identified by Kerr White in his 1991 book in which
Posted on by 1 CommentNobody 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 byA Public Health Genomic State-by-State Clickable Map: Accelerating Implementation of Genomics Applications to Improve Population Health
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
Posted on by 1 Comment