Genomics and Precision Health Posts

Applications of Polygenic Risk Scores to Population Health: Where Are We?

a polygenic risk curve over a population

An international multidisciplinary group of experts in genetics, law, ethics, behavioral sciences, and other fields reviews the state of science on polygenic scores and highlights risks and gaps before widespread use in practice. Polygenic risk scores (PRS) combine the small effects of many genes across the human genome to estimate the risk of a disease Read More >

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

Contributions of Genomics to the Fight Against Malaria

This Giemsa-stained, thin film blood smear photomicrograph reveals the presence of a young, growing, Plasmodium vivax trophozoite (Lt), and a platelet stack (Cntr), which resembles a P. falciparum gametocyte.

Malaria was endemic in the United States (US) when the Communicable Disease Center was purposefully opened in Atlanta, GA, rather than Washington DC, in 1946. The Communicable Disease Center, now the US Centers for Disease Control and Prevention (CDC), was started closest to where malaria elimination efforts were needed: the Southern US, including Georgia, suffered Read More >

Posted on by Colleen Scott, Division of Global HIV & TB, and Eldin Talundzic, Division of Parasitic Diseases and Malaria, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

New CDC Partnerships to Advance the Development and Validation of Next Generation Sequencing Tests: A Publicly Available List of Expert Curated Variants

a person using scissors to cut DNA

Over the last decade, genetic testing has evolved from examining a few well-defined variants in one or a few genes to the capability to examine much of the human genome using next generation sequencing (NGS). These analyses are particularly useful for disorders with locus and allelic heterogeneity, and are now the norm in several clinical Read More >

Posted on by Lisa V. Kalman, Ira M. Lubin, Division of Laboratory Systems, Centers for Disease Control and PreventionLeave a commentTags

Happy Thanksgiving 2021: Family Health History in the COVID-19 Era

Knowing and acting on your family health history can protect your health. Use My Family Health Portrait to take the first steps: Collect your family helath history - Share it with your doctor and family; an image of an extended family with a button labeled VISIT My Family Health Portrait

For a second year in a row, this Thanksgiving might not look the same as the ones before it, but some things haven’t changed. Even if you can’t see your loved ones in person, Thanksgiving is still a great time to talk to your family members about your family health history. Having one or more family members Read More >

Posted on by Ridgely Fisk Green and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionLeave a comment

The Science of Gene-Environment Interaction at the Centers for Disease Control and Prevention and Agency for Toxic Substances and Disease Registry

a double helix with different viruses and diseases

Now, more than ever, we are aware that our environment has implications for our health. We are also learning more about the effects of inherited traits, such as blood type, on disease susceptibility and progression. Understanding the interactions between our environment and our genes and how they affect health outcomes offers a multitude of potential Read More >

Posted on by Stephanie Foster, Office Of Innovation And Analytics, Agency For Toxic Substances And Disease Registry; Marta Gwinn, Wei Yu, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionLeave a commentTags

An Expanding List of Tier 1 Genomic Applications: Evidence-based Guidelines for Hypertrophic Cardiomyopathy and Public Health

a heart in a body with the text: Tier 1 Genomic Applications

The CDC Tier-Classified Guideline Database includes three Tier 1 guidelines on hypertrophic cardiomyopathy (HCM). A 2014 guideline from the European Society of Cardiology, a 2017 guideline from the American Heart Association, American College of Cardiology, and Heart Rhythm Society, and a 2020 guideline from the American Heart Association and American College of Cardiology all recommend Read More >

Posted on by Michael A. Burke and Laurence S. Sperling, Division of Cardiology, Emory University School of Medicine, Atlanta, Georgia, W. David Dotson and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia1 CommentTags , ,

Large-Scale Population Studies as a Path to Personalized Medicine: Easier Said than Done!

two puzzle pieces coming together made out of a population with a magnifying glass on them and DNA in the background

For more than two decades, advances in genomics have promised a new era of personalized or precision medicine (i.e., the right intervention to the right person at the right time). Scientific evaluation of new gene discoveries has been aided by the launch of large-scale epidemiologic and clinical collaborative global studies. In a recent commentary, McCarthy Read More >

Posted on by Muin J. Khoury and Marta Gwinn, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionLeave a commentTags

The Contributions of Host Genomics Research to the COVID-19 Response: It’s Not Just About Genes!

COVID-19 and sequencing

A recent large collaborative host genomics study provides valuable insight into the interplay of biology and epidemiology on COVID-19. The study was based on a meta-analysis of nearly 50,000 patients from 46 studies spanning 19 countries. The study found 13 loci (specific locations on various chromosomes) associated with COVID-19 susceptibility or severity through genome wide Read More >

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

Tracking the Scientific Literature on SARS-CoV-2 Variants Using the COVID-19 Genomics and Precision Health Knowledge Base

a stack of journals with the COVID-19 GPH logo in the background

The first reports of SARS-CoV-2, the highly infectious virus causing COVID-19, swept across the globe in December 2019, prompting a burst of scientific activity. The rate of research and discovery intensified as the pandemic grew, resulting in a flood of publications in journals and on preprint servers around the world. More recently, SARS-CoV-2 variants have Read More >

Posted on by Merline Feero, Marta Gwinn, and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia1 CommentTags ,

Mendelian Randomization: A Precision Public Health Tool for the COVID-19 Response

flowchart: Confounder arrows to Modifiable Exposure and Disease Outcome; Gene Variant (Instrument Exposure Variable) arrow to Modifiable Exposure and Modifiable Exposure arrow to Disease Outcome

In the early days of the COVID-19 pandemic, when little was known about the natural history of the disease, predicting the course of the pandemic was of premier importance for treating sick patients and redoubling efforts to protect those at highest risk of adverse outcomes. To address this need, investigators used a study design that Read More >

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