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Genomics 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
Posted on byThe 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
Posted on byApplications 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
Posted on byNew 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
Posted on byThe Science of Gene-Environment Interaction at the Centers for Disease Control and Prevention and Agency for Toxic Substances and Disease Registry
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
Posted on byLarge-Scale Population Studies as a Path to Personalized Medicine: Easier Said than Done!
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 byToward Achieving Health Equity for People with Genetic Disorders
If health equity is about making sure that everyone has the opportunity to be as healthy as possible, public health efforts to achieve health equity must include people with genetic disorders. Some might consider having a genetic disorder a health inequity itself—one present from birth and over which affected individuals have limited control. Thousands of
Posted on by 2 CommentsWhat should be the public health priorities in genomics and precision medicine in the next decade?
The CDC Office of Genomics and Precision Public Health is undergoing strategic planning to identify major opportunities for impact of public health action in human genomics and precision medicine in the next decade. As part of this process, we interviewed nine persons external to CDC from diverse backgrounds and organizations that represent the leading edge
Posted on by 1 CommentWhat is Public Health Genomics? A Day in the Invisible Life of Public Health Genomics (an Encore)
We published this blog a decade ago. As we celebrate 2021 public health genomics week, we republish the blog to remind our readers of the relevance of genomics to many areas of public health. The topics discussed here may be outdated but the fundamental applications of public health genomics are today more important than ever.
Posted on byPublic Health Genomics Priorities Through a Health Equity Lens
Achieving Health Equity in Genomics and Precision Medicine is More Important than Ever The CDC Office of Genomics and Precision Public Health is undergoing strategic planning to identify priorities and actions for genomics and precision medicine. As we embark on this work, we are focusing on health equity. The potential for genomics and precision medicine
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