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Rare Disease Day 2022: The Evolving Impact of Genomics and Precision Health
In celebration of Rare Disease Day 2022, we reprint excerpts of four previous blogs. Rare Diseases, Genomics and Public Health: An Expanding Intersection (February 17, 2016) 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
Posted on byThe Current Landscape of CDC Publications in Human Genomics and Public Health
In October 2021, the CDC Office of Genomics and Precision Public Health (OGPPH) launched a new, five-year initiative to strengthen public health capacity in genomics and precision medicine. The emergence of evidence-based genomic applications and lack of equity in their implementation in clinical and public health practice provided an important impetus for this initiative. To
Posted on byNew CDC Partnerships to Advance the Development and Validation of Next Generation Sequencing Tests: A Publicly Available List of Expert Curated Variants
Over the last decade, genetic testing has evolved from examining a few well-defined variants in one or a few genes to the capability to examine much of the human genome using next generation sequencing (NGS). These analyses are particularly useful for disorders with locus and allelic heterogeneity, and are now the norm in several clinical
Posted on byHappy Thanksgiving 2021: Family Health History in the COVID-19 Era
For a second year in a row, this Thanksgiving might not look the same as the ones before it, but some things haven’t changed. Even if you can’t see your loved ones in person, Thanksgiving is still a great time to talk to your family members about your family health history. Having one or more family members
Posted on byTracking the Scientific Literature on SARS-CoV-2 Variants Using the COVID-19 Genomics and Precision Health Knowledge Base
The first reports of SARS-CoV-2, the highly infectious virus causing COVID-19, swept across the globe in December 2019, prompting a burst of scientific activity. The rate of research and discovery intensified as the pandemic grew, resulting in a flood of publications in journals and on preprint servers around the world. More recently, SARS-CoV-2 variants have
Posted on by 1 CommentToward Achieving Health Equity for People with Genetic Disorders
If health equity is about making sure that everyone has the opportunity to be as healthy as possible, public health efforts to achieve health equity must include people with genetic disorders. Some might consider having a genetic disorder a health inequity itself—one present from birth and over which affected individuals have limited control. Thousands of
Posted on by 2 CommentsWhat is Public Health Genomics? A Day in the Invisible Life of Public Health Genomics (an Encore)
We published this blog a decade ago. As we celebrate 2021 public health genomics week, we republish the blog to remind our readers of the relevance of genomics to many areas of public health. The topics discussed here may be outdated but the fundamental applications of public health genomics are today more important than ever.
Posted on byPublic 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
Posted on byPublic Health Impact of Digital Health: Reinventing the Wheel
“Digital health has potential to improve health management, but the current state of technology development and deployment requires a “buyer beware” cautionary note.” (Perakslis and Ginsburg, JAMA, 2020) In a recent JAMA viewpoint, Perakslis and Ginsburg summarize the current state of digital health and discuss approaches in evaluating benefits, risks and value of these technologies.
Posted on byPrecision Medicine in Action: How can we make cascade screening for hereditary conditions work best in the real world?
If someone in your family were diagnosed with a genetic condition, would you want to be tested for that condition as well? For some disorders, like Huntington’s disease, for which there are no means available for prevention or cure, the question can be extremely difficult to answer. However, with many other conditions (for example familial
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