Get up to Speed on the Latest Developments in the Field! Register for the ORISE Current Issues in Genomics and Precision Public Health Online Training Event, September 7–8, 2023.
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
8M ago
Advances in genomics, data science, machine learning, and artificial intelligence are transforming practice. Next generation public health and medical workforces need to understand these developments and how they can be used to benefit population health. Recognizing this challenge, Oak Ridge Institute for Science and Education (ORISE) is partnering with the Office of Genomics and Precision Public Health at the Centers for Disease Control and Prevention (CDC) to offer a free 2-day in-person training event covering the latest developments in these fields: Current Issues in Genomics and Precisio ..read more
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Persistent Underutilization of BRCA Testing for Breast and Ovarian Cancer in the United States: Implications for Health Disparities
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
8M ago
Two recent studies document ongoing underutilization and disparities in genetic testing for patients with breast and ovarian cancer. BRCA1 and BRCA2 (BRCA) genetic testing is supported by clinical guidelines to inform hereditary cancer risk for people with certain personal or family health histories of breast, ovarian, pancreatic, or prostate cancer, and to guide treatment decisions for people with these cancers. The United States Preventive Services Task Force (USPSTF) recommends primary care providers use available risk assessment tools to identify women at risk for BRCA mutations who shoul ..read more
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The Promise of Population-based Genomic Screening for Selected Hereditary Conditions: Contributions of Cost-Effectiveness Analysis
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
9M ago
It is estimated that 3 million people in the United States carry pathogenic variants that increase their risks for heart disease and cancer. If people with such variants are identified, medical interventions are available to significantly reduce morbidity and mortality. However, existing recommendations tend to emphasize family-based or ethnic-specific criteria to determine at-risk individuals for testing, which can miss most of the affected persons in the population. More recently, researchers and public health professionals have been considering population genomic screening, or offering gene ..read more
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Data for Action in Public Health Genomics: Ensuring Equitable Implementation of Genomic Applications Across the Lifespan
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
9M ago
In the more than 20 years since the completion of the Human Genome Project, basic and clinical research have delivered on the promise to develop genomic applications that can help prevent and treat many diseases across the lifespan. However, efforts to ensure equitable implementation of genomic applications have fallen short particularly among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. Feeling the Genomic Pulse in the United States In 2011, our office made a strong case for the importance of population-leve ..read more
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Population-based Genomic Screening Programs: The Need for Optimal Implementation to Ensure Health Equity
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
10M ago
Population genomic screening of adults has emerged as a strategy to promote prevention of common diseases such as cancer and heart disease among persons with genetic conditions. This type of screening has the potential to identify millions of currently undetected people in the United States who are at risk of preventable diseases for which evidence-based recommendations already exist to reduce morbidity and mortality. However, as of today, many questions remain regarding screening acceptability, short- and long-term clinical outcomes, selection of genes for screening, and cost. Pilot populatio ..read more
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Tracking the Contributions of Implementation Science to the Population Health Impact of Genomics and Precision Health: A New Knowledge Base
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
10M ago
Successful implementation of evidence-based genomic and precision health interventions requires an understanding of what works and what doesn’t work within the context of various clinical and public health settings. Research and evaluation that incorporate implementation science tools and methods into the translation of these interventions facilitate this. Here we present a new CDC knowledge base, a collection of these implementation science studies, and a summary of their collective contributions to date. What is IS-PHGKB? The Implementation Science Public Health Genomics and Precision Health ..read more
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Tracking the Impact of the All of Us Research Program: The All of Us Reports and Publications Database
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
1y ago
The All of Us Reports and Publications Database (AofURPD) is a continuously updated, searchable database referencing and linking to peer reviewed journal publications, preprint records, as well as select information from websites and media sources that relate to the All of Us Research Program. This blog provides a baseline overview of the content of the AofURPD as of March 17, 2023, including reports and publications as far back as the All of Us Research Program inception in 2016. The All of Us Research Program aims to accelerate health research and medical breakthroughs, enabling individualiz ..read more
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Rare Primary Immunodeficiency Diseases and COVID-19: Evolving Insights and Implications for Clinical and Public Health Practice
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
1y ago
In this post, we explore how new research on rare genetic diseases is contributing to our understanding of COVID-19 occurrence and outcomes and discuss potential clinical and public health implications. Understanding the mechanisms involved in these inherited disorders may shed light on biological mechanisms and natural history of COVID-19. Primary Immunodeficiency and COVID-19 Primary immunodeficiency (PI)—often used interchangeably with inborn error of immunity (IEI)—refers to a set of rare, single-gene disorders that affect the functioning of the immune system. As of 2022, 485 differen ..read more
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A Piece of a Puzzle – The All of Us Research Program and Cancer
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
1y ago
A recent article discusses the promise of precision medicine research for cancer prevention and control in the National Institutes of Health (NIH)’s All of Us research program. In 2015, then-President Barack Obama announced the precision medicine initiative to “bring us closer to curing diseases, such as cancer and diabetes — and to give all of us access to the personalized information we need to keep ourselves and our families healthier.” Precision medicine is a personalized approach to medical care where a person’s own genes or proteins are used to prevent, diagnose, or treat disease.  ..read more
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Interplay Between the Exposome and the Genome in Health and Disease
CDC | Genomics and Health Impact Blog
by Office of Genomics and Precision Public Health
1y ago
A recent review assessed the interplay between environmental exposures and the human genome and showed ways that this interplay can alter disease risk. Many diseases, such as birth defects and developmental disabilities, type 2 diabetes and cancer, are influenced by both environmental and genetic factors. The cumulative effects of environmental exposures prenatally and throughout life is referred to as the exposome. Studies of the exposome have identified associations between environmental exposures and disease, such as smoking and type 2 diabetes or alcohol consumption and systolic blood pres ..read more
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