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10 results for population screening

Can we use genetic screening of healthy populations to save lives and prevent disease? Join the conversation.

a doctor looking into a crystal ball filled with people - he is surrounded by a babies feet with bloodspots and a crowd of people and a stop sign with cancer on it and a stethoscope listening to a heart

On January 30, 2017, CDC held a special workshop to discuss the role of public health in the implementation of genetic screening programs beyond the newborn period. The workshop brought together panelists from the worlds of medical genetics and public health practice, including cancer, birth defects, and laboratory science. Workshop presenters and a CDC panel discussed

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention6 CommentsTags ,

The Cancer Moonshot, Hereditary Cancers and Population Genetic Screening

Cancer Moonshot with an image of a moon surrounded by DNA and a crowd of people

In September 2016, the Cancer Moonshot Blue Ribbon Panel delivered a report with 10 ambitious recommendations to shape cancer research for the next five years. One recommendation is to “expand use of proven prevention and early detection strategies.” [PDF 199 KB] There is a lot we can do to prevent cancer now— even with no

Posted on by Muin J. Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention, and Lisa C. Richardson, Director, Division of Cancer Prevention and Control, Atlanta, Georgia

From Genetic Counseling in Individuals to Cascade Screening in Populations: An Emerging Role for Public Health Practice

genetic counseling

There are more than 2500 diseases for which genetic testing is currently available. Most of these diseases are individually rare conditions but collectively affect millions of individuals and families worldwide. Genetic diseases are usually caused by mutations in one or a few genes that may confer a high risk of illness, disability and early death.

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention1 CommentTags ,

Tracking the Contributions of Implementation Science to the Population Health Impact of Genomics and Precision Health: A New Knowledge Base

Original Genomics Precision Health Studies, 2013–2023*

Successful implementation of evidence-based genomic and precision health interventions requires an understanding of what works and what doesn’t work within the context of various clinical and public health settings. Research and evaluation that incorporate implementation science tools and methods into the translation of these interventions facilitate this. Here we present a new CDC knowledge base,

Posted on by Mindy Clyne, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia; Megan C. Roberts, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Muin J. Khoury, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia1 CommentTags ,

Familial Hypercholesterolemia Screening in Children and Adolescents in the United States: Where Are We Heading?

map of the US with a FH pedigree and a stethoscope on a heart with children

A September 2022 publication recommended that every European country should have a Familial Hypercholesterolemia program for early detection screening, diagnosis, and care. Familial Hypercholesterolemia (FH) is a genetic condition that results in elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth, resulting in increased risk of heart disease and myocardial infarction. A 2021 blog from

Posted on by Mindy Clyne, Office of Genomics and Precision Public Health; Katherine Kolor, Office of Genomics and Precision Public Health; Larry Sperling, Million Hearts initiative, Division for Heart Disease and Stroke Prevention, Centers for Disease Control and Prevention, and Emory Clinical Cardiovascular Research Institute, Division of Cardiology, Department of Medicine, Emory University School of Medicine, Atlanta Georgia; and Muin J Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

From Guthrie to Genomes: The Continued Evolution of Newborn Screening

a newborn foot with sequencing and DNA

Two recent articles by Bick et al. and Watson et al. discussed the future of newborn screening and identified considerations and needs for the evolution of the newborn screening system as it tries to meet the growing demands to screen for more rare diseases and incorporate genomic technologies. As newborn screening (NBS) moves past 60

Posted on by Amy Gaviglio, MS, CGC, 4ES Corporation, Cynthia Hinton, PhD, Suzanne Cordovado, PhD, Rosemary Hage, PhD, and Carla Cuthbert, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention1 Comment

Improving access to genetic services for underserved populations: Amish, Mennonite, and other Plain communities

a man riding a horse and a buggy

Lack of access to genetic services in rural areas could contribute to disparities in quality of care, but tailored approaches can overcome some barriers and improve care. Here we present the example of the Midwest Genetics Network (MGN) outreach with the Plain communities. Plain people are descendants of the Anabaptists who emigrated to the United

Posted on by Aditi Kantipuly, Mathew J. Edick, and Jane Pilditch, Center for Strategic Health Partnerships, Michigan Public Health Institute, Okemos, MI; Ridgely Fisk Green, Tanaq Support Services, LLC and Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and PreventionTags

From Guthrie to Genomes: Expanding Bioinformatic Capabilities in Newborn Screening Programs

a newborn babies foot on sequencing with certain sequencing pointed to with a red arrow

Through a funding opportunity from CDC’s Office of Genomics and Precision Public Health in collaboration with the Office of Advanced Molecular Detection, CDC’s Newborn Screening and Molecular Biology Branch will conduct a two-year project to develop a streamlined national newborn screening (NBS) bioinformatics pipeline to help in expanding the use and utility of gene and

Posted on by Amy Gaviglio and Carla Cuthbert, Division Of Laboratory Sciences, Centers for Disease Control and PreventionTags

Applications of Polygenic Risk Scores to Population Health: Where Are We?

a polygenic risk curve over a population

An international multidisciplinary group of experts in genetics, law, ethics, behavioral sciences, and other fields reviews the state of science on polygenic scores and highlights risks and gaps before widespread use in practice. Polygenic risk scores (PRS) combine the small effects of many genes across the human genome to estimate the risk of a disease

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

Stool-based Colorectal Cancer Screening in the COVID-19 Era

a figure with the colon highlighted and a COVID-19 virus

The COVID-19 pandemic continues to exact a devastating public health toll and in many indirect ways. While people work from home and avoid social contact, many may also be skipping important preventive care. Findings released in May of 2020 indicated a drop of between 86% and 94% in preventive cancer screenings in 2020 compared with

Posted on by W. David Dotson, Muin J. Khoury, M. Scott Bowen Office of Genomics and Precision Public Health, Office of Science; & Nicole F. Dowling, Division of Cancer Prevention and Control, National Center for Chronic Disease Prevention and Health PromotionTags