Genomics and Precision Health Blog – Archive Posts
Public Health Genomics Priorities Through a Health Equity Lens
Achieving Health Equity in Genomics and Precision Medicine is More Important than Ever The CDC Office of Genomics and Precision Public Health is undergoing strategic planning to identify priorities and actions for genomics and precision medicine. As we embark on this work, we are focusing on health equity. The potential for genomics and precision medicine Read More >
Posted on byPersonal Reflections on Genomics, Health Equity, and Public Health
My nephew, Eddie, and niece, Sheri, were lively, witty, high-spirited, active, bright, and full of hope. Eddie dreamed of becoming a professional baseball player, while Sheri aspired to become a mathematical engineer. But their childhood diagnoses with a type of kidney disease called nephrotic syndrome ended those dreams. While nephrotic syndrome can be inherited, we Read More >
Posted on byStool-based Colorectal Cancer Screening in the COVID-19 Era
The COVID-19 pandemic continues to exact a devastating public health toll and in many indirect ways. While people work from home and avoid social contact, many may also be skipping important preventive care. Findings released in May of 2020 indicated a drop of between 86% and 94% in preventive cancer screenings in 2020 compared with Read More >
Posted on byFrom Genes to Public Health: Building the Evidence Base for DNA-based Population Screening
This blog post is a summary of our recent commentary in Genetics in Medicine. The use of genetics in population screening long predates the Human Genome Project. For more than 60 years, newborn screening has been a successful public health program that has resulted in major improvements in outcomes for infants with genetic and other Read More >
Posted on byHost Genomics and COVID-19: One Year Later
Unprecedented global research collaborations in human genomics provide a model for research in response to a pandemic. Early in the COVID-19 pandemic, we discussed the role of research on human genetics in the investigation of SARS-CoV-2 infection and outcomes. We now know more about the wide variation in host response, from asymptomatic infection to Read More >
Posted on byApplications of Digital Tools for Precision Public Health in the COVID-19 Era: Where Are We?
Two recent systematic scoping reviews explore the use and limitations of digital tools in public health surveillance and their applications to the pandemic response Digital health tools offer increasing potential for substantial benefits to medicine and public health. In clinical practice, digital applications include personal wearable devices, devices within the body, and sensors that can Read More >
Posted on byTier 1 Guidelines on Family-Based Screening for Hereditary Hemochromatosis
An important function in public health genomics is to identify evidence-based genomic applications that can save lives and prevent disease. In maintaining the PHGKB Tier Coded Guidelines database, we routinely look for Tier 1 applications of genomic testing strategies that have evidence-based guidance supporting implementation in specific clinical scenarios. We only consider recommendations that have Read More >
Posted on bymRNA COVID-19 Vaccines: An Incredible Feat of Genomic Technology
In December 2020, less than a year after the SARS-CoV-2 virus was identified, two COVID-19 vaccines manufactured by Pfizer-BioNTech and Moderna were approved for use in the United States under an Emergency Use Authorization by the U.S. Food and Drug Administration (FDA). Never has a U.S. vaccine been developed so quickly, and genome technology made Read More >
Posted on by 2 CommentsHow Common is Familial Hypercholesterolemia?
Familial Hypercholesterolemia (FH) is a genetic condition that leads to high blood levels of low-density lipoprotein cholesterol, also known as LDL-C or “bad cholesterol.” Most people with FH have heterozygous FH, meaning they have only one FH-causing mutation, but in rare cases, a person can have homozygous FH, meaning they have FH-causing mutations in both Read More >
Posted on byNext Generation Sequencing to Diagnose Primary Immunodeficiency
Primary immunodeficiencies (PI) are a group of more than 400 genetic disorders that alter the ability of the immune system to fight off infection and affect 1 out of 1,2001 births in the United States. Patients with PI are at increased risk of recurrent infections, certain malignancies, and death. Initial identification of PI in a Read More >
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