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10 results for rare disease

Five Misconceptions About the Role of Genomics in Public Health

5 Misconceptions arrow pointing to 5 and Facts arrow pointing to a hand holding a double helix with a crowd in the background

In a recent post, I reviewed the progress of genomics in public health over the past two decades and pondered on the lingering skepticism about genomics in the public health community. I propose that this skepticism is driven, at least in part, by 5 common misconceptions about the role of genomics in public health. In

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

Geography, Genetics and Leading Causes of Death

a mortality map of the US with secuencing in the background

In the United States, the 5 leading causes of death are heart disease, cancer, chronic lower respiratory diseases, cerebrovascular diseases (stroke), and unintentional injuries. On May 2, 2014, the Centers for Disease Control and Prevention released an MMWR report on the annual number of potentially preventable deaths from these 5 causes in the United States.

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionTags , , ,

Public Health Genomics Highlights 2013

2013 Highlights with DNA string in the background

At the end of each year, we read about top lists of major events, accomplishments, and milestones. These lists are produced by journal editors, institutions and opinion leaders.  CDC is no exception. In December 2013, CDC published its top 5 accomplishments for 2013, which include the Tips from former smokers campaign, outbreak investigations featuring pathogen

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionTags , ,

Genome Sequencing in the Clinic – The question is not whether the glass is half-full or half-empty but whether or not the glass is the right tool.

two half full glasses of water - one with DNA inside it and one with DNA next to it

Earlier this fall, the Blue Cross Blue Shield Technology Evaluation Center produced a report evaluating the clinical use of exome sequencing in the diagnosis of rare diseases. That this report was even generated is remarkable, as it marks an appreciable level of penetration by exome sequencing into clinical care. A decade ago, sequencing and interpreting even

Posted on by W. Gregory Feero, MD, PhD, Maine Dartmouth Family Medicine ResidencyTags , , ,

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

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 Prevention3 CommentsTags

Can’t Stop, Won’t Stop: The Resiliency of Newborn Screening Programs during the COVID-19 Pandemic

A recent article identified the impact of the COVID-19 pandemic on the newborn screening system and highlighted the importance of collaboration and technical assistance to ensure ongoing operations of this essential public health service. The ongoing COVID-19 pandemic stressed, disrupted, and fundamentally changed the public health system in the United States. While much of the

Posted on by Amy Gaviglio, MS, CGC; Connetics Consulting, Association for Public Health Laboratories, Washington, DCTags

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

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, GeorgiaTags ,

Precision Public Health in Action: New CDC Pilot Projects Integrate Human Genomics into Public Health Surveillance and Applied Research

a magnifying glass looking at a globe with DNA

In collaboration with the CDC Office of Advanced Molecular Detection, we recently launched a new, five-year initiative to strengthen public health capacity by introducing elements of human genomics into both public health surveillance and applied research. We report here on the successful launch of one of the initiative’s components. The Office of Genomics and Precision Public

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

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

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

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

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