Category: genomics

Rare Disease Day 2022: The Evolving Impact of Genomics and Precision Health

Rare Disease Day 2022 with a ribbon and a map of the world

In celebration of Rare Disease Day 2022, we reprint excerpts of four previous blogs. Rare Diseases, Genomics and Public Health: An Expanding Intersection (February 17, 2016) Rare Disease Day is celebrated on the last day of February each year. On that day, millions of patients and their families around the world share their stories in order Read More >

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment
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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 Read More >

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, GeorgiaLeave a comment
Categories genomics, pharmacogenomics
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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 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 comment
Categories genomics, precision public health

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, 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 comment
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The Current Landscape of CDC Publications in Human Genomics and Public Health

sequencing with a double helix and a doctor pointing to different icons above a farm field

In October 2021, the CDC Office of Genomics and Precision Public Health (OGPPH) launched a new, five-year initiative to strengthen public health capacity in genomics and precision medicine. The emergence of evidence-based genomic applications and lack of equity in their implementation in clinical and public health practice provided an important impetus for this initiative. To Read More >

Posted on by Mindy Clyne, W. David Dotson, Anja Wulf, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment
Categories genomics, public health

Genomics and Precision Medicine 2021: Progress in Implementation, A Focus on Health Equity, and a New Public Health Initiative

a doctor using his stethoscope on a puzzle piece of a population with dice changing from 2021 to 2022

In this post, we reflect on another eventful year in genomics and precision medicine and review the emerging opportunities for the field to make an impact on population health. We use the annual review published by the National Human Genome Research Institute (NHGRI) along with our own website updates, and blogs as a springboard for Read More >

Posted on by Muin J. Khoury, Scott Bowen, W. David Dotson, Katherine Kolor, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment
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The Use of Machine Learning in Health Care: No Shortcuts on the Long Road to Evidence-based Precision Health

a doctor points to different icons

Two recent systematic reviews reveal the high risk of bias present in randomized controlled trials (RCTs) and observational studies based on machine learning and artificial intelligence. Digitization of health data holds profound potential to change the way we collect information and interact with the health care system. In current times, an increasing volume of health-related Read More >

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