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Introducing the Rare Diseases Genomics and Precision Health Knowledge Base

For the past three years, The CDC Public Health Genomics Knowledge Base (PHGKB) has been tracking the public health impact of advances in genomics and precision technologies. Every day, we provide new information and publications for researchers, health care providers, policy makers, and the general public. We also offer access to the latest epidemiologic and
Posted on by 2 CommentsHow Genetic Counselors are Dealing with Direct-to-Consumer Genetic Testing

After receiving ancestry information from a direct-to-consumer (DTC) genetic testing company, Ellen Matloff, a certified genetic counselor and frequent writer about the limitations of DTC tests, downloaded her raw data file from their website for interpretation by a third party service. She was shocked to see that her raw data included a variant for Lynch
Posted on byPublic Health Genomics: What’s Next?

In the 1990’s, the excitement surrounding the Human Genome Project led the public health community to plan for the future role of genomics in health care and disease prevention. The field of public health genomics was launched to identify opportunities for the new science to impact health, inform public health programs and health care providers
Posted on byPreventive medicine can be more precise and precision medicine can be more preventive!

In a recent JAMA viewpoint, Psaty and coauthors compare precision medicine and preventive medicine as two distinct models in medicine and public health. They use the example of hemophilia B to illustrate how new gene therapy can successfully target treatment with high specific-activity factor IX variant. They contrast this model of precision medicine with the
Posted on by 1 CommentSatisfying Popular Curiosity: What Is Genetic Counseling?

As 2018 comes to a close and the data comes rolling in, it can officially be said that “genetic counseling” was the most popular search term in the Public Health Genomics Knowledge Base (PHGKB). Genetic counseling is one of the fastest growing careers in the country, with a growth rate of 29% since 2016, according
Posted on byHappy Thanksgiving 2018: Protect your family’s health by using My Family Health Portrait to collect and share your family health history

Happy Thanksgiving Day! It is time to send our yearly message on the importance of family health history to your own health. Every year we emphasize a slightly different version of this message. In 2017, we highlighted the simple fact that even in the age of genomics and precision medicine, family health history remains as
Posted on byContributions of Public Health in Reducing the Population Burden of Familial Hypercholesterolemia: Challenges and Opportunities

In October 2018, we attended the fifth annual Global Familial Hypercholesterolemia (FH) Summit. This gathering of more than 300 people from over 30 countries included patients, researchers, government organizations, practitioners, health systems, implementation science experts, and industry. The event focused on methods for accelerating uptake of evidence into clinical practice and health policy. The event
Posted on by 1 CommentPerspectives from a state genetics coordinator: Public health’s role in addressing familial hypercholesterolemia (FH) in the United States

For several years I have pondered what should or could be the state public health agency role in addressing FH. Most of my public health genetics colleagues were actively working on other CDC-labeled tier 1 conditions, such as Lynch syndrome (LS) and Hereditary Breast and Ovarian Cancer syndrome (HBOC). While few, if any, of my
Posted on by2018 Yearlong Seminar Series in Public Health Genomics

Advances in genomics, bioinformatics and other technologies are ushering a new era of precision medicine and precision public health. Human genome sequencing is increasingly used in a variety of health systems in the United States and globally. Pathogen genomic sequencing is been rapidly integrated into clinical and public health research and practice. 2018 marked 20
Posted on by 1 CommentIntroducing GRANTOMICS: Our enhanced search engine and analysis tool for grant information associated with publications on genomics and population health impact.

The CDC Office of Public Health Genomics has launched GRANTOMICS, an extension of the Public Health Genomics Knowledge Base (PHGKB). GRANTOMICS is an upgraded version of the Grant Database, introduced in March, 2018, and reviewed in a previous blog. The upgraded GRANTOMICS database allows you to: Perform searches with any free text word or term,
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