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10 results for newborn screening

Genetic Counseling and Public Health in the Era of Precision Medicine

In August 2019, the All of Us Research Program announced the funding of a nationwide resource to provide genetic counseling support to one or more million participants in the precision medicine cohort in the United States. Participants from diverse populations will share health information over time through surveys and electronic health records, and they will

Posted on by Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment
Categories genomics
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Public Health Genomics: What’s Next?

a figure looking at a sign labeled Public Health Genomics with an arrow going to another sign labeled Precision Public Health and a double helix in the background

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 by Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics

Perspectives from a state genetics coordinator: Public health’s role in addressing familial hypercholesterolemia (FH) in the United States

a body with exposed heart and an artery with cholesterol and a pedigree in the background

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 by Debra Lochner Doyle, Guest Blogger, State Genetics Coordinator, Washington State Department of Health, Kent, Washington
Categories genomics
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The Road Less Traveled: Genomic Epidemiology Capacity in State Public Health Programs

a road not traveled much with sequencing

In 2017, the Council of State and Territorial Epidemiologists (CSTE) published its latest Epidemiology Capacity Assessment of state health departments’ workforce size and resources. The assessment inquired about the number of current and optimal epidemiologist positions; sources of epidemiology activity and funding; and states’ self-perceived capacity to lead epidemiology activities, provide expertise, and manage resources

Posted on by Muin J. Khoury and Marta Gwinn, Office of Public Health Genomics (OPHG), Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics, public health

Tracking Progress in Public Health Genomics at CDC: A New CDC-Authored Genomics Publication Database

screenshot of the CDC-authored Genomics Publication Database in the PHGKB

Are you curious about the progress CDC is making in genomic research? With the ever-increasing amount of scientific literature on genomics in public health—from infectious diseases to chronic diseases and environmental health—a new database offers timely updates on genomic research by CDC staff. The CDC’s Office of Public Health Genomics, has launched a new CDC-Authored

Posted on by Wei Yu and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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Stimulating Implementation Science in Genomics and Precision Medicine for Heart, Lung, Blood and Sleep Diseases: The Case of Familial Hypercholesterolemia

a heart puzzle with a person holding data charts

Implementation science is an emerging field of scientific inquiry that has been increasingly applied to genomics and precision medicine. In our recent papers on the state of scientific publications and NIH funding, we have identified areas of growth and limitations of the field and called for more training and workforce development for implementation science in

Posted on by Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, and George Mensah, Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute
Categories genomics
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What do women (and men) want? Parents weigh in on genetic testing for rare diseases in children

a block depicting a mother, a father and child holding hand with DNA

Genetic testing in children has traditionally focused on conditions with clinical actionability or utility. However, parents may want to know whether their child is at high risk of a rare disease even if a treatment doesn’t exist. A newly published article reports on a study conducted by researchers at RTI International and the University of

Posted on by Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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Progress in Public Health Genomics Depends on Measuring Population Level Outcomes

DNA and a US map and a person pointing to a graph

Public health genomics is a relatively young field concerned with the effective and responsible translation of genomic science into population health benefits. In the past few years, the field has witnessed the emergence of several state public health genomics programs beyond the traditional domain of newborn screening. The field has focused on preventing disease and

Posted on by Debra Lochner Doyle, Screening and Genetics Unit, Washington State Department of Health, Kent, Washington; Mindy Clyne, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland; David Chambers, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland; Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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The need for a next-generation public health response to rare diseases.

a crowd of people in grey and one individual standing out in color and double helices on the border of the image

In recognition of Rare Disease Day 2017, we republish, with permission, a modified extract from our recent commentary in Genetics in Medicine. Few public health research activities trigger stronger calls to public health action than research into the burden of disease. This research uses standard measures to quantify actual or potential losses that populations may

Posted on by Rodolfo Valdez (guest blogger), Scott D. Grosse (guest blogger), National Center on Birth Defects and Developmental Disabilities & Muin J. Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention4 Comments
Categories genomics, public health
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Precision Medicine and Population Health: Dealing With the Elephant in the Room

a elephant in a room with a crowd on one side and doctors on the other side including DNA above on the wall

In this week’s Journal of American Medical Association, we published a point-counterpoint commentary on the impact of precision medicine on population health. Announcement of the news of the US precision medicine initiative has been met with a range of responses from enthusiasm to skepticism about potential benefits, limitations and return on investment. In considering the

Posted on by Muin J. Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, and Sandro Galea, Dean, School of Public Health, Boston University, Boston, Massachusetts2 Comments
Categories precision medicine
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