Genomics and Precision Health Posts

Using Implementation Science Frameworks in Genomics and Precision Medicine: We Can Do Better!

data being held by a hand and hands putting together two puzzle pieces

A recent scoping review identified many structured approaches to the implementation of genomics and precision medicine and limited use of implementation science frameworks. With continuous advances in genomics and accelerated translation from discovery into clinical practice, in our blog posts, we have repeatedly examined the crucial importance and emerging role of implementation science in the Read More >

Posted on by Mindy Clyne, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia, David Chambers, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, and Muin J Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment

What is the Role of Public Health in Addressing Health Equity in Genomics and Precision Medicine?

a couple talking to a professional with a double helix

The following are excerpts from our recent paper in Genetics in Medicine. Although recent articles have included strong calls for a health equity agenda in genomics and precision medicine, these calls usually focus on underrepresentation of minority and ethnic populations in research.  However, to ensure that genomic discoveries can lead to improved population health outcomes, Read More >

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention1 Comment

Colliding with Collider Bias: Implications for Precision Public Health

Exposure and Outcome with an arrow between them labeled Distorted Association and two arrows going to Collider

A recent JAMA Guide to Statistics and Methods reviews how collider bias can lead to erroneous inference on causal relationships in clinical and epidemiological studies, potentially leading to incorrect clinical decision making and ineffective public health action. What is Collider Bias? Informed decision making in medicine and public health relies on valid evidence from clinical Read More >

Posted on by Danielle Rasooly, Ramal Moonesinghe and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment

Host Genomics and COVID-19: Two Years Later

host genomics on a timeline from 2020 and beyond with a COVID-19 virus and some spikes breaking off on the timeline

Early in the COVID-19 pandemic, we explored the rationale for host genomic studies to our understanding of COVID-19 occurrence and outcomes. Two years into the pandemic, we are taking another look. Many academic research groups and consortia—such as the COVID-19 Host Genetics Initiative (COVID-19 HGI) and COVID Human Genetic Effort—have launched worldwide open-science collaborations, featuring Read More >

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

Using Pharmacogenomics to Better Understand the Role of Selected Medications and Birth Defect Risk

DNA encased in a pill with a pregnant woman

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 Birth Defects Monitoring and Research Branch in the National Center on Birth Defects and Developmental Disabilities will conduct a 2-year project to gather genome-wide genotyping data to look at relationships between pharmacogenomic Read More >

Posted on by Mary Jenkins, Lynn Almli, Jennita Reefhuis. Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

Tracking the Scientific Literature on the Impact of Pharmacogenomics on Clinical Practice and Public Health

bar graph of Trends in pharmacogenomic implementation studies, 2012-2021

Pharmacogenomics (PGx) is an emerging field that investigates genetic differences in drug effectiveness and safety. PGx is an essential component of precision medicine  and seeks to provide the right medication for the right person at the right time. Advances in PGx promise to improve treatment of many diseases such as cancer and cardiovascular disease. In Read More >

Posted on by Sarina Abrishamcar, Emory University Rollins School of Public Health, W. David Dotson, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionLeave a comment

Precision Public Health in Action: Enhancing models to predict risk of adverse treatment outcomes in people with hemophilia

hemophilia an data

In collaboration with the CDC Office of Advanced Molecular Detection, the Office of Genomics and Precision Public Health recently funded the National Center on Birth Defects and Developmental Disabilities (NCBDDD) to strengthen public health capacity by introducing elements of human genomics into applied research on predicting inhibitor risk in people with hemophilia. Hemophilia refers to a group Read More >

Posted on by Christopher J. Bean, PhD and Amanda B. Payne, PhD MPH - National Center on Birth Defects and Developmental DisabilitiesLeave a commentTags

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 Read More >

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

Assessing Pharmacogenetic Variation in the United States to Enhance Health Equity of Pharmacogenetic Testing

DNA in a pill on top of a map from the US

CDC’s Genetic Testing Reference Material program (GeT-RM), in the Division of Laboratory Systems will conduct a 2-year project to test 5000 DNA samples from the population-based National Health and Nutrition Examination Survey (NHANES) to determine the allele frequencies of 970 unique haplotypes in 150 pharmacogenes selected because they have high clinical annotation levels of evidence Read More >

Posted on by Lisa Kalman, PhD. Division of Laboratory Systems, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

Using Immunogenetics in the Fight Against Ebola Virus Disease

DNA and Ebola

CDC’s Viral Special Pathogens Branch focuses on viruses causing hemorrhagic fevers and requiring the highest levels of biological containment. Within VSPB, the Molecular Pathogenesis and Therapeutics Team conducts basic and applied research to understand how these viruses interact with our bodies to cause disease, and how this knowledge can be used to develop and evaluate Read More >

Posted on by Markus Kainulainen, Division of High Consequence Pathogens and Pathology, National Center for Emerging and Zoonotic Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,