Category: genomics

Cost-effectiveness of Pharmacogenomic Testing: How to Measure the Value of Having the Right Dose of the Right Drug for the Right Patient

a stethoscope with money, pills with DNA inside them, a crowd and a few people in the inner circle being target, and a doctor talking to a patient in a hospital bed

A recent systematic review that assessed the cost-effectiveness of pharmacogenetic testing for drugs with existing guidelines concluded that most studies favored pharmacogenomic testing. The significance of this conclusion must be interpreted with caution and in the context of study factors, such as funding sources, geography, cohort, and the cost-effectiveness comparisons being made. Pharmacogenomics (PGx) combines Read More >

Posted on by Lu Shi, Zhuo Chen, W. David Dotson, Katherine Kolor, Scott Grosse, Muin J. Khoury {Office of Genomics and Precision Public Health, National Canter on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia}Leave a commentTags ,

Tracking the Impact of the All of Us Research Program: The All of Us Reports and Publications Database

All of Us Research Program with a spotlight on a diverse group of people

The All of Us Reports and Publications Database (AofURPD) is a continuously updated, searchable database referencing and linking to peer reviewed journal publications, preprint records, as well as select information from websites and media sources that relate to the All of Us Research Program. This blog provides a baseline overview of the content of the Read More >

Posted on by Mindy Clyne, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia; Sheri Schully, All of Us Research Program, National Institutes of Health, Bethesda, Maryland; Wei Yu and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia3 CommentsTags

Rare Primary Immunodeficiency Diseases and COVID-19: Evolving Insights and Implications for Clinical and Public Health Practice

shadows of three children with a COVID-19 virus and DNA

In this post, we explore how new research on rare genetic diseases is contributing to our understanding of COVID-19 occurrence and outcomes and discuss potential clinical and public health implications. Understanding the mechanisms involved in these inherited disorders may shed light on biological mechanisms and natural history of COVID-19. Primary Immunodeficiency and COVID-19 Primary immunodeficiency (PI)—often Read More >

Posted on by Emily Drzymalla, Muin J. Khoury, and Marta Gwinn, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,

A Piece of a Puzzle – The All of Us Research Program and Cancer

cancer and a puzzle piece and All of US with a crowd

A recent article discusses the promise of precision medicine research for cancer prevention and control in the National Institutes of Health (NIH)’s All of Us research program. In 2015, then-President Barack Obama announced the precision medicine initiative to “bring us closer to curing diseases, such as cancer and diabetes — and to give all of Read More >

Posted on by Kevin Littrell and Muin J. Khoury, Office of Genomics and Precision Public Health, CDC; Sun Hee Rim, Division of Cancer Prevention and Control, CDCLeave a 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 Read More >

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, GeorgiaLeave a commentTags

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 Read More >

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

Advancing Genomic Medicine in Africa: Work in Progress

a globe with Africa and DNA

A 2021 report by the African Academy of Sciences (AAS), the Alliance for Accelerating Excellence in Science in Africa (AESA), and the African Union Development Agency (AUDA-NEPAD) presented a framework for the implementation of genomic medicine for public health in Africa. Globally, there is widespread recognition of the potential of genomic medicine (GM) to improve Read More >

Posted on by Jeffery Osei, Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia; George A. Mensah, Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute, Bethesda, Maryland; Muin J. Khoury, Office of Genomics and Precision Public Health, Atlanta, GeorgiaLeave a 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, Read More >

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, GeorgiaLeave a commentTags ,

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 Read More >

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, GeorgiaLeave a commentTags ,

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 Read More >

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