domingo, 24 de julio de 2016

Genomics and Health Impact Blog | Blogs | CDC

Genomics and Health Impact Blog | Blogs | CDC

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Precision Medicine and Public Health: Improving Health Now While Generating New Knowledge for the Future

a crowd
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. Read More >
Posted on  by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags 

The Ultimate Selfie

reflect4
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. Read More >
Posted on  by Scott Bowen and Muin J Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention2 CommentsTags 

Using Genomics in Precision Prevention of Breast Cancer

Hands joined in circle holding breast cancer struggle symbol and surrounded by DNA
Breast cancer is the most common cancer in women in the United States. It is estimated that 3%-5% of breast cancer cases are hereditary, most often involving mutations in BRCA1 and BRCA2 genes. Such mutations confer high lifetime risk of breast and ovarian cancer. The United States Preventive Services Task Force has issued specific recommendations Read More >
Posted on  by Muin J Khoury, Director, Office of Public Health Genomics and Lisa C Richardson, Director, Division of Cancer Prevention and Control, Centers for Disease Control and PreventionLeave a commentTags 

When a Country Cannot be a Cohort: Challenges of Implementing a Large Precision Medicine Cohort Study in the United States

a huge crowd versus a small group of people
The recently proposed US precision medicine initiative promises a new era of healthcare with targeted disease treatment and prevention. It prominently features a longitudinal study of a national cohort of a million or more people to customize interventions based on a person’s genetics and other factors. The long term goal of this study is to Read More >
Posted on  by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags 

Precision Public Health and Precision Medicine: Two Peas in a Pod

two peas is a pod: first pea has a crowd of figures with one under a magnifying glass- second pod has that individual being examined by a doctor- the pod has DNA on it
  The 2015 US Precision Medicine Initiative promises a new era of biomedical research and its application in health care. The initiative is enabled by rapid advances in biomedical sciences, including genomics and bioinformatics, as well as the progress in communication, information technologies and data science. Targeted cancer therapies are a near term goal for Read More >
Posted on  by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags 

Human Disease and Bad Luck: Acting on Genetic & Environmental Factors to Reduce Cancer Risk

a pair of die, DNA and a hand holding a globe with a tree inside wiht sequencing in the background
In January 2015, a paper in Science created a “buzz” in the scientific community and the media. Based on statistical modelling, the authors suggested that “only a third of the variation in cancer risk among tissues is attributable to environmental factors or inherited predispositions. The majority is due to ‘bad luck,’ that is, random mutations Read More >
Posted on  by Muin J Khoury, Director, Office of Public Health Genomics and Lisa C. Richardson, Director, Division of Cancer Prevention and Control, Centers for Disease Control and Prevention1 Comment

100,000 Studies: A Milestone for Human Genome Epidemiology (HuGE) and the HuGE Navigator

a HUGE odometer with 100000 on it
The HuGE published literature database now contains more than 100,000 citations, a milestone reached at the end of 2014. The Office of Public Health Genomics has compiled this database since 2001 via weekly systematic sweeps of PubMed performed by a single curator. For the first five years, a complex PubMed query was used to identify Read More >
Posted on  by Marta Gwinn, Consultant, McKing Consulting Corp, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags 

The Success of Precision Medicine Requires a Public Health Perspective

a magifying glass focusing on a figure in red with surrounding figures in blue
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 Read More >
Posted on  by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention1 CommentTags 

Newborn screening in the genomics era: are we ready for genome sequencing?

a newborn baby
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 Read More >
Posted on  by Alison Stewart, Office of Public Health Genomics, Centers for Disease Control and Prevention; Ridgely Fisk Green, Carter Consulting, Inc., and Office of Public Health Genomics, Centers for Disease and Stuart K. Shapira, National Center on Birth Defects and Developmental Disabilities2 CommentsTags 

Celebrating a Decade of Evidence-Based Evaluation of Genomic Tests

Ira Lubin, Doris Zallen, Dave Dotson, Sheri Schully, Marc Williams, Ned Calonge, Roger Klein, Muin Khoury and Cecile Janssens at the EGAPP meeting
CDC’s Office of Public Health Genomics (OPHG) launched the Evaluation of Genomic Applications in Practice and Prevention Initiative (EGAPP) in 2004. The independent EGAPP Working Group (EWG) celebrated a decade of achievements and accomplishments at their meeting in Atlanta on October 27-28, 2014. The EWG is comprised entirely of volunteers, encompassing multiples areas of expertise Read More >
Posted on  by W. David Dotson and Muin J Khoury, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags 

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