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Toward Achieving Health Equity for People with Genetic Disorders

s cancer cell, a heart, a drop of blood and a babies foot in front of sequencing

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 Muin J. Khoury, Ridgely Fisk Green, Katherine Kolor, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia2 CommentsTags

What should be the public health priorities in genomics and precision medicine in the next decade?

Public Health Priorities for the next Decade with two figures looking at data with a double helix

The CDC Office of Genomics and Precision Public Health is undergoing strategic planning to identify major opportunities for impact of public health action in human genomics and precision medicine in the next decade. As part of this process, we interviewed nine persons external to CDC from diverse backgrounds and organizations that represent the leading edge

Posted on by Katherine Kolor, Ridgely Fisk Green, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment

What is Public Health Genomics? A Day in the Invisible Life of Public Health Genomics (an Encore)

Public Health Genomics with professionals looking at a double helix with a calendar

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 The topics discussed  here may be outdated but the fundamental applications of public health genomics are today more important than ever.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 by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia

Public Health Genomics Priorities Through a Health Equity Lens

three individuals with one having a magnifying glass on him with a double helix

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 by Muin J. Khoury, Scott Bowen, David Dotson, and Katherine Kolor, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

Personal 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

Posted on by Michelle Rose, Office of Science Scientific Rotation 2020–2021 cohort, and Ridgely Fisk Green, Office of Genomics and Precision Public HealthTags

Tier 1 Guidelines on Family-Based Screening for Hereditary Hemochromatosis

Tier 1 Guidelines for Hereditary Hemochromatosis with a photo of a family with adult children

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

Posted on by W. David Dotson, Katherine Kolor, Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science; and Scott D. Grosse, National Center on Birth Defects and Developmental DisabilitiesTags ,

mRNA 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

Posted on by Joanne Cono, W. David Dotson, Ridgely Fisk Green, and Muin J. Khoury, Office of Science, Centers for Disease Control and Prevention2 CommentsTags ,

How Common is Familial Hypercholesterolemia?

people holding hands with a heart above them in the air

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

Posted on by Frank Swann, Dual MSGC/MPH Class of 2022, University of Pittsburgh Graduate School of Public Health and Ridgely Fisk Green, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionTags

Labs on FHIR: Sharing Genetic Test Results*

Phase 1 through Phase 4 with an image of double helices for Phase 1, a person looking at DNA, a maginfying glass, a microscope and a brain, for Phase 3 a lab worker is shown using a text tube and a pipette, and for Phase 4 a doctor is discussing genetic results with a person

The use of genetic testing is becoming increasingly routine in patient care. For example, tests are available to check newborns for genetic disorders, screen would-be parents for carrier status, inform cancer care, and evaluate potential pharmacogenetic associations. However, the laboratories that perform these tests face many challenges that keep them from being able to return

Posted on by Allison Dennis; Kevin Chaney; Tracy Okubo and Teresa Zayas Cabán, Office of the National Coordinator for Health Information Technology, Department of Health and Human ServicesTags

2020: A Challenging Year of Progress for Genomics and Precision Public Health

2020 with an arrow to 2021 with a double helix below and a COVID-19 virus and a masked family and under 2021 a person getting the COVID-19 vaccine

It is time to wrap up an eventful 2020 which unfortunately was dominated by the COVID-19 pandemic. From January 2020 through November 2020, we saw a major increase in visits to our website (> 2.6 million views, compared to 2 million views in 2019 and 1.2 million views in 2018). In our year end blog,

Posted on by Muin J. Khoury and Scott Bowen, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags ,