Genomics and Precision Health Blog – Archive Posts
Genome Sequencing for Healthy Individuals? Think Big and Act Small!

In a 2013 blog post, we asked the question: “When should we all have our genomes sequenced?” At that time, we concluded that the time is not right and that “if we want to use whole genome sequencing in the course of regular preventive care and health promotion, research should be conducted to evaluate its Read More >
Posted on byDirect to Consumer Genetic Testing: Think Before You Spit, 2017 Edition!

As people have become more proactive in managing their health, personal genomic direct to consumer (DTC) testing has become more popular over the past decade. These tests allow consumers to access information about genetic predispositions and response to chemicals and medications without the involvement of healthcare providers. With the expanding landscape of such testing, the Read More >
Posted on by 14 CommentsGenomics and Population Health Action: Join the Collaboration

In February 2017, I attended a one-day meeting of leaders of the Genomics and Population Health Action Collaborative (GPHAC). This group of more than 40 organizations and individuals is dedicated to the integration of genomics into clinical and public health programs to save lives and prevent disease. (Details on GPHAC and its membership can be Read More >
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 Read More >
Posted on byThe need for a next-generation public health response to rare diseases.

In recognition of Rare Disease Day 2017, we republish, with permission, a modified extract from our recent commentary in Genetics in Medicine. Few public health research activities trigger stronger calls to public health action than research into the burden of disease. This research uses standard measures to quantify actual or potential losses that populations may Read More >
Posted on by 4 CommentsImplementation Science in Genomic Medicine: Why we need it now!

With the launch of the precision medicine cohort initiative, All of UsSM Research Program, the importance of incorporating implementation science in genomic medicine is greater than ever to ensure population health benefits for all. Historically, the speed of genomic discovery has far exceeded the time required to put these potentially life-saving medical discoveries into practice. Read More >
Posted on byCan we use genetic screening of healthy populations to save lives and prevent disease? Join the conversation.

On January 30, 2017, CDC held a special workshop to discuss the role of public health in the implementation of genetic screening programs beyond the newborn period. The workshop brought together panelists from the worlds of medical genetics and public health practice, including cancer, birth defects, and laboratory science. Workshop presenters and a CDC panel discussed Read More >
Posted on by 6 CommentsThe Appropriateness and Cost of Thrombophilia Panel Testing: It’s Complicated

Deep vein thrombosis (DVT) and pulmonary embolism (PE) are two manifestations of venous thromboembolism (VTE), an underdiagnosed, serious, and sometimes-preventable medical condition that occurs when a blood clot forms in a deep vein (DVT) and subsequently breaks up and travels to the lungs (PE). DVT/PE is a serious public health problem [PDF 1.15 MB] affecting Read More >
Posted on by2016: The Year of Precision Public Health!

In our 2015 end-of-year blog post entitled: “Public health genomics 2015: Looking back, looking ahead”, we predicted that 2016 will feature a more in-depth exploration of “key concepts for the development of precision public health beyond genomics to include a variety of personal and environmental data for preventing disease and promoting health.” One year later, Read More >
Posted on by 1 CommentFrom One Hundred Thousand Genomes in the United Kingdom to Millions of Genomes in the United States: What Lessons Can we Learn?

In recent years, the United Kingdom (UK) has made a major commitment to developing a large scale population cohort study (100,000 genome project), linking high quality genomic sequence data to electronic health record information for the purposes of scientific discovery and clinical care improvement. The plan is for this project to continue well into the Read More >
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