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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 ,

Interplay Between the Exposome and the Genome in Health and Disease

a body with two circles overlaying - one labeled Exposome with Environmental and an image of smoke stacks and Lifestyle with an image of fruit. The other circle is labeled Genome with a double helix. The intersection is labeled Interaction

A recent review assessed the interplay between environmental exposures and the human genome and showed ways that this interplay can alter disease risk. Many diseases, such as birth defects and developmental disabilities, type 2 diabetes and cancer, are influenced by both environmental and genetic factors. The cumulative effects of environmental exposures prenatally and throughout life

Posted on by Emily Drzymalla, Danielle Rasooly, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

Population Screening for Rare Pathogenic Variants as the Low Hanging Fruit for Public Health Genomics Across the Lifespan

a family with a tree of DNA with low hanging circles of people and many different hands reaching to them

Rapid advances in human genome sequencing technologies have accelerated the integration of genomics into clinical practice. Genomics has demonstrated clinical utility as a diagnostic tool for certain diseases, but its potential for population screening is still work in progress. In principle, DNA-based population screening can identify persons with rare pathogenic variants who are at high

Posted on by 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

Increasing Use and Impact of Family Health History in Medically Underserved Populations: Work in Progress

two DNA strands with three people

Despite years of public health efforts, family health history remains underutilized in clinical care, especially among people who are medically underserved. To address these issues, CDC’s Office of Genomics and Precision Public Health hosted a webinar on November 14, 2022, in conjunction with National Family Health History Day (Thanksgiving). The speakers called for better informed,

Posted on by Grant Wood, Independent Advisor on Clinical Genomics Technology, Salt Lake City, Utah; Kimberly A. Kaphingst, Department of Communication and Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah; Nadeem Qureshi, Faculty of Medicine & Health Sciences, School of Medicine, University of Nottingham Medical School, Nottingham, England; Ridgely Fisk Green, Office of Genomics and Precision Public Heath, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags ,

Preventing Disease and Protecting Health Among Individuals at Increased Genetic Risk: A Lifespan Perspective and an Emerging Public Health Challenge

Since the completion of the Human Genome Project, major advances have occurred in the translation of human genome discoveries into clinical practice and disease prevention. As almost all human diseases are due to complex gene-environment interactions, the applications of human genomics should be pertinent to the prevention and control of many diseases, including rare and

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, Georgia; Karen Remley, National Center on Birth Defects and Developmental Disabilities, Atlanta, GeorgiaTags ,

The Use of Cell-free DNA in Clinical Practice: Work in Progress

DNA in test tubes and a doctor with a stethoscope

A recent review outlines the use of circulating tumor DNA (ctDNA) in clinical practice and the requirements necessary to extend the use of this technology for health impact. Cell-free DNA (cfDNA) is extracellular strands of DNA present in body fluids. Circulating tumor DNA (ctDNA) is a specific type of cfDNA that originates from a primary tumor, circulating

Posted on by Mindy Clyne, Katherine Kolor, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags ,

Public Health Genomics at the Centers for Disease Control and Prevention: Happy 25th Anniversary!

Happy 25th Anniversary! Photos of the people of the Office of Genomics and Precision Public Health through the 25 years

In 1997, in response to the Human Genome Project, the CDC formed the Office of Genetics and Disease Prevention, now called the Office of Genomics and Precision Public Health (OGPPH). This was the beginning of the public health genomics movement in the United States and around the world. Our office continues to serve CDC programs,

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

From Polygenic Risk Scores to Methylation Risk Scores: What are the Clinical Applications?

Polygenic risk score and a figure with a stethoscope

A recent study used methylation risk scores to improve predictive value of baseline models for a range of clinical diagnoses and laboratory tests. The ability to understand and predict a person’s risk of disease is an integral component of precision medicine and precision public health. Many factors, including environmental and genetic, contribute to a person’s

Posted on by Emily Drzymalla, Danielle Rasooly, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags ,

Genetic Discrimination and Misuse of Genetic Information: Areas of Possible Discrimination, Current Legislation, and Potential Limitations

a hand holding a globe with a seesaw made out of a double helix

The emergence and the rapid development of various genetic technologies and their incorporation into precision medicine have greatly expanded medicine’s capabilities. At the same time, concerns about the availability and dissemination of vast amounts of personally relevant data have focused attention on potential problems of genetic discrimination. Over the past three decades, concerns about genetic discrimination

Posted on by Seon Gyu Lee, W. David Dotson, and Leonard Ortmann, Office of Science, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags ,

From Genomics to Proteomics— What’s the Impact on Population Health?

a crowd of people with genomics and proteomics

Advances in genomic sequencing technology are transforming medical discovery, enabling researchers to conduct comprehensive explorations across whole genomes for individuals and populations. Genomics has led to valuable insights into the complex processes influencing health and disease. It has paved the way for studying how genes regulate the most basic functions of the cell, including what

Posted on by Danielle Rasooly, Emily Drzymalla, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia1 CommentTags ,