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10 results for precision public health

The Limits of Risk Prediction: Remembering Cecile Janssens

Muin Khoury and Cecile Janssens

“The number of possible ‘causal’ [gene-environment] interactions is so enormous that every patient’s disease likely has its own complex and unique cause. This uniqueness limits predictive ability: it is impossible to accurately predict something that has never occurred before.” Cecile Janssens, DNA tells great stories—about the past, not future, WIRED, December 5, 2013 Risk prediction

Posted on by Marta Gwinn, Office of Genomics and Precision Public Health (OGPPH), Office of Science, Deputy Director for Public Health Science and Surveillance, CDC; Sara Bedrosian, Office of the Associate Director for Communication (OADC), Office of the Director, CDC; Muin J. Khoury, Office of Genomics and Precision Public Health (OGPPH), Office of Science, Deputy Director for Public Health Science and Surveillance, CDC5 CommentsTags ,

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 ,

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

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, GeorgiaTags

Danielle Rasooly

Danielle Rasooly, PhD is a biostatistician for the CDC’s Office of Genomics and Precision Public Health. Dr. Rasooly’s specialty is in applying methods in machine learning and causal inference to large-scale medical and genetic data to understand genetic determinants of disease and to inform clinical decision-making. Her current area of interest lies at the intersection


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

Using Pharmacogenetics to Enhance Tuberculosis (TB) Treatment

a person pointing at different icons with tuberculosis in the background

Through a funding opportunity from CDC’s Office of Genomics and Precision Public Health in collaboration with the CDC Office of Advanced Molecular Detection, CDC’s Division of Tuberculosis Elimination will conduct a 2-year project to assess relationships between pharmacogenetics (PG), TB drug exposure, relevant treatment outcomes, and safety. Researchers will use information collected in an international phase

Posted on by Meredith Moore, MPH, Bria Marlowe, MPH, CHES, ORISE Fellow, Carla Jeffries, JD, MPH, Wendy Carr, PhD, Ekaterina Kurbatova, MD, PhD, MPH. Division of Tuberculosis Elimination, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

Equitable Implementation of Cascade Testing for Genetic Disorders: Where are We?

a cascade testing pedigree with a scale and a figure with a magnifying glass looking at a question mark

Testing relatives of individuals with genetic disorders, a process known as cascade testing or cascade screening, is critical for identifying those needing health services that can prevent morbidity and mortality. Yet, cascade testing is poorly implemented in clinical practice. For example, there are several genetic conditions with CDC tier 1 evidence-based recommendations for cascade testing,

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

The Long Road to Population-based Genomic Screening

Since 2012, the CDC Office of Genomics and Precision Public Health (OGPPH) has identified three autosomal dominant conditions for which there exist evidence-based recommendations to prevent morbidity and mortality from either cancer or heart disease. Using our evidence-based framework, we have collectively labeled the following conditions as tier 1 genomic applications: 1) hereditary breast and

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia and Michael F. Murray, Clinical director, Center for Genomic Medicine, Yale University School of Medicine, New Haven, Connecticut3 Comments

Should polygenic risk scores be used in risk-stratified colorectal cancer screening?

a polygenic risk score bell and a body with a colon being exposed

Polygenic risk scores (PRS) summarize information about a person’s disease risk based on numerous DNA variants in their genome. Each variant confers very little increase in disease risk. But composite (or polygenic) risk scores made up of a number of such variants have been shown to stratify people to normal distributions of disease risks for

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

David Dotson

David Dotson, PhD, MS, is a health scientist at the Office of Genomics and Precision Public Health (OGPPH), Centers for Disease Control  and Prevention (CDC) in Atlanta. He has done post-doctoral work in academic and industrial biotechnology settings, specializing in the analysis of gene expression. He has also worked in the pharmaceutical industry as a senior medical writer.