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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 Read More >

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 PreventionLeave a commentTags

Next Generation Sequencing to Diagnose Primary Immunodeficiency

three children with sequencing in the background

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 >

Posted on by Aditi Kantipuly, Medical Student, McGill University and Ridgely Fisk Green, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionLeave a commentTags

Public Health Impact of Digital Health: Reinventing the Wheel

a cell phone being held by a stethoscope and a figure looking at the cell phone and thinking about 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. Read More >

Posted on by Muin J. Khoury and W. David Dotson, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

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 Read More >

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 ServicesLeave a commentTags