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Rare Diseases, Genomics and Public Health: An Expanding Intersection
Rare Disease Day is celebrated on the last day of February each year. On that day, millions of patients and their families around the world share their stories in order to raise awareness about rare diseases and their impact. There are thousands of diseases that are individually rare but collectively common. In the United States,
Posted on by 1 CommentCancer Precision Medicine: More Population Sciences Ahead!
We explore briefly the expanding role of population sciences in the implementation of the NIH Precision Medicine Initiative (PMI). The initiative includes a major component on cancer precision treatment, and a large scale cohort study program to generate knowledge applicable to all areas of health and disease, including cancer risk factors and outcomes. Genomics is
Posted on byPublic Health Genomics 2015: Looking Back, Looking Ahead
In 2015, the United States launched the precision medicine initiative that includes a cancer component and a national cohort research study of one million or more people. While much of this initiative will take years to develop outputs for use in health care, a public health perspective is crucial to ensure the initiative’s success in
Posted on byDealing with the Genomics and Health Information Overload: Introducing the CDC Public Health Genomics Knowledge Base
Understanding genetic information is increasingly becoming important for health decision making for a variety of health conditions across the lifespan. The amount of genome-related information is growing exponentially, but it is scattered all over the web, peer-reviewed literature, and public and private databases. The CDC Office of Public Health Genomics has launched the beta version
Posted on byGenomic discoveries to clinical applications: Are we reaching an inflection point toward precision medicine?
Each year at the annual American Society of Human Genetics (ASHG) meeting I follow certain rituals. During the first “poster session”, I quickly peruse all of the vendor booths on the floor to assess something of the overall flavor of the commercial space’s focus. During the next two poster sessions I cruise all of the
Posted on byThe Future of Epidemiology in the Age of Precision Medicine: Cancer, Cardiovascular Disease, and Beyond
We live in the era of “Big Data.” Evaluating the health impact of large scale biological, social, and environmental data is an emerging challenge. Epidemiology, the study of the distribution and determinants of human disease in populations, is a foundational science of public health and provides important insights for medical practice and disease prevention. Epidemiology has
Posted on by 1 CommentPublic Health Approach to Big Data in the Age of Genomics: How Can we Separate Signal from Noise?
The term Big Data is used to describe massive volumes of both structured and unstructured data that is so large and complex it is difficult to process and analyze. Examples of big data include the following: diagnostic medical imaging, DNA sequencing and other molecular technologies, environmental exposures, behavioral factors, financial transactions, geographic information & social
Posted on by 1 CommentIs 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 CommentThe Public Health Approach to Genetic Testing in the 21st Century: Saving Lives and Saving Unnecessary Healthcare Costs
In March 2012, a prominent health insurer in the United States released a white paper entitled: “Personalized Medicine: trends and prospects for the new science of genetic testing and molecular diagnostics” By analyzing their own claims data, the report suggests that in 2010, the cost of genetic and molecular diagnostic testing for its members was about $500
Posted on by 4 CommentsA Piece of a Puzzle – The All of Us Research Program and Cancer
A recent article discusses the promise of precision medicine research for cancer prevention and control in the National Institutes of Health (NIH)’s All of Us research program. In 2015, then-President Barack Obama announced the precision medicine initiative to “bring us closer to curing diseases, such as cancer and diabetes — and to give all of
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