Genomics and Health Impact Blog Posts
Consumer Genetic Testing Is Booming: But What are the Benefits and Harms to Individuals and Populations?
Initially a Niche Market for Very Few with Small Population Impact The first genetic tests directly available to consumers for health were offered in 1996. The concept, then, was both audacious and bold: the idea that individuals could explore their own human genome without the aid of a health care provider to order the test Read More >Posted on by
Stimulating Implementation Science in Genomics and Precision Medicine for Heart, Lung, Blood and Sleep Diseases: The Case of Familial Hypercholesterolemia
Implementation science is an emerging field of scientific inquiry that has been increasingly applied to genomics and precision medicine. In our recent papers on the state of scientific publications and NIH funding, we have identified areas of growth and limitations of the field and called for more training and workforce development for implementation science in Read More >Posted on by
In the past two years the term “precision public health” has been increasingly used in the scientific literature and at professional meetings. A quick PubMed search of the term shows 28 papers (as of April 30, 2018) dating back to our 2016 paper, “Precision Public Health for the Era of Precision Medicine.” The papers cover Read More >Posted on by
Universal Screening for Lynch Syndrome: Can Tumor Sequencing Have a Larger Public Health Impact on Treatment and Prevention of Colorectal Cancer?
Lynch syndrome (LS) is the most common hereditary syndrome associated with increased risk of colorectal cancer (CRC), accounting for about 3% of CRC patients. LS is a dominantly inherited condition with mutations in several mismatch repair (MMR) genes. Persons with LS are also at increased risk for endometrial and other cancers. Lynch syndrome affects 1 Read More >Posted on by
Evaluating the Impact of Precision Medicine: How Ivacaftor Reduces Hospitalizations of Patients with Cystic Fibrosis
Precision medicine takes into account individual factors in treating disease, targeting interventions to patients that can benefit the most. Population-based studies evaluating precision medicine approaches are important to determine whether the field can fulfill its promise for improved health outcomes. A prime example of precision medicine is ivacaftor, a small molecule drug originally developed to Read More >Posted on by
Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world?
An important component of precision medicine is the identification, through genetic testing, of people who are at elevated risk of disease because of pathogenic germline mutations. Cascade screening involves contacting relatives of patients with certain hereditary conditions to help inform, manage, and identify those who may be at increased risk. A systematic scoping review on Read More >Posted on by
Tracking the Translation of Genomic Discoveries to Population Health Benefits: Connecting the Dots from Investment to Population Health Information
In March 2018, the CDC Office of Public Health Genomics launched the Grant Database (GDB), an extension of the Public Health Genomics Knowledge Base (PHGKB). GDB “connects the dots” between funding investment and publications on translation, implementation, and evaluation of population health impact of genomics and precision medicine. We launched PHGKB in 2016, as an Read More >Posted on by
In March 2018, I attended the third annual meeting of leaders of the Genomics and Population Health Action Collaborative (GPHAC). GPHAC was formed late in 2015 under the auspices of the National Academy of Medicine’s Roundtable on Genomics and Precision Health to foster collaboration of more than 50 diverse stakeholders, including state public health programs, Read More >Posted on by
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that significantly increases the risk of atherosclerotic cardiovascular disease and premature deaths from heart attacks and stroke. The national prevalence of FH and rates of screening, awareness, and treatment with statins among individuals with FH and other causes of high lipid levels (dyslipidemias) remain largely unknown. Read More >Posted on by
Leap of Faith or Smart Investment? Early Integration of Whole Genome Sequencing in Healthcare Systems
Discovery science in genomic medicine has generally enjoyed longstanding large collaborations for data sharing and joint analyses. Synergies among collaborators has accelerated major advances in our understanding of the genetic basis of health and diseases. More recently, some of the same scientists have come together to aggregate data for more applied clinical research with NIH Read More >Posted on by
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