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

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 Leave a commentUsing Pharmacogenetics to Enhance Tuberculosis (TB) Treatment

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

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 Leave a commentEquitable Implementation of Cascade Testing for Genetic Disorders: Where are We?

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 Leave a commentThe Current Landscape of CDC Publications in Human Genomics and Public Health

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

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 Leave a commentThe Use of Machine Learning in Health Care: No Shortcuts on the Long Road to Evidence-based Precision Health

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 Leave a commentApplications of Polygenic Risk Scores to Population Health: Where Are We?

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 Leave a commentContributions of Genomics to the Fight Against Malaria

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

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 >
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