Genomics and Precision Health Posts

Preeclampsia, Genomics and Public Health

a doctor checking the blood pressure of a pregnant person

A recent study identified a cell free RNA (cfRNA) signature that was promising in predicting pre-eclampsia several weeks before the onset of symptoms. At 29 weeks pregnant, Erica was diagnosed with preeclampsia, a pregnancy complication marked by high blood pressure and signs of organ failure, most often liver or kidney damage. According to the Mayo Read More >

Posted on by Erica L. Dawson, Population Health Surveillance Branch, Division of Population Health, National Center on Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention; Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention1 CommentTags

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 Read More >

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 ,

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 Read More >

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, GeorgiaLeave a commentTags

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 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 ,

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 Read More >

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

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 Read More >

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

Trends in Tier 1 Genomic Applications 2013-2022

two figures looking at genomics trends with the text Tier 1 Applications

The CDC Tier 1 genomic applications database can help consumers, providers, health care organizations and public health programs accelerate the translation of genomic discoveries into improved population health.       Background Advances in genomics and precision medicine are proceeding at a rapid pace. Many genomic tests have reached clinical practice without clear indication as to whether their Read More >

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, GeorgiaLeave a commentTags ,

Genomics, Health Equity, and Global Health

two hands holding the world surrounding by DNA and a crowd

The World Health Organization’s Science Council recently issued its first report on accelerating access to genomics for global health. The report makes a strong case for less-resourced countries to gain access to such technologies. Although remarkable progress has been made in the translation of genomic discoveries into health benefits, in 2020, the World Health Organization (WHO) reminded Read More >

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

From the Genome to the Exposome: Mapping Causal Associations Between Environmental Factors and Population Health

Environmental factors such as lifestyle, diet, and exposure to toxins and chemical agents, can play an important role in our health. Complementary to the “genome,” which is the complete set of an individual’s genetic information, the “exposome” represents an individual’s complete set of environmental exposures throughout their lifetime. Coined in 2005, the “exposome” captures the Read More >

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, GeorgiaLeave a commentTags ,

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 Read More >

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