Genomics and Health Impact Blog

A blog devoted to discussing best practices and questions about the role of genomics in disease prevention, health promotion and healthcare.

Latest articles

Precision Medicine in Action: How can we make cascade screening for hereditary conditions work best in the real world?

If someone in your family were diagnosed with a genetic condition, would you want to be tested for that condition as well? For some disorders, like Huntington’s disease, for which there are no means available for prevention or cure, the question can be extremely difficult to answer. However, with many other conditions (for example familial hypercholesterolemia...

A Strong Start: Enhancing Newborn Screening for Precision Public Health

As the capability to sequence an individual’s genome or exome continues to expand—and the cost continues to fall—more states are considering how next generation sequencing (NGS) could support their newborn screening programs, which test approximately four million babies born in the United States each year for congenital, treatable diseases. Results...

How Accessible Are Genetics Providers and How Can Access Be Increased?

The increase in clinical genetic testing, as well as direct-to-consumer testing, means a growing demand for genetic counseling services, which are often provided by genetic counselors. If patients are referred for genetic counseling, what barriers might they face in accessing these services? How can genetic counselors help address these barriers? ...

Are We Ready for Population Screening for Hereditary Hemochromatosis?

Hereditary Hemochromatosis (HH) is an inherited iron storage disorder in which the body builds up too much iron, damaging tissues and organs. In most people, HH is caused by two copies of a specific change (mutation) in the HFE gene which is most commonly found in people of European ancestry. In the United States, over 650,000 (1 in 300) non-Hispanic...

Artificial Intelligence, Public Trust, and Public Health

As a data-driven agency, CDC has always had highly skilled statisticians and data scientists. As part of the Data Modernization Initiative, CDC is supporting strategic innovations in data science using artificial intelligence and machine learning (Ai/ML). Ai/ML is the practice of using mathematics with computers to learn from a wide range of data and...

Whole Genome Sequencing (WGS) versus the gonococcus: How CDC scientists are using WGS to beat antibiotic resistant gonorrhea

Since 1995, when the first high-quality bacterial genome was completed using Sanger sequencing, the number of publicly available bacterial whole genome sequences (WGS) has grown exponentially, due to advances in next-generation (and now third generation) sequencing technology. The first bacteria sequenced using next-generation technologies included...

The Road Ahead for Genomics Research: From Technology to Population Health Impact

We often reflect on the promise, progress and challenges in the translation of genomics research into population health benefits. A recent commentary in Nature Reviews Genetics featured 12 key scientific challenges and opportunities in the field. Leading scientists took stock of the current state of science and discussed needed research in the next...

Barriers and Facilitators to Recruiting Study Participants in Host Genomic Studies

Host genomic studies play an important part in understanding disease susceptibility, severity, and outcomes. These studies require a minimum number of participants to ensure statistical power. Participation barriers and facilitators must be considered in order to effectively recruit a suitable number and diversity of eligible participants. The COVID-19...

Precision Public Health and the COVID-19 Response

This blog is a summary of our recent paper in the Journal of the American Association. The public health response to COVID-19 requires a mix of general and targeted public health interventions, i.e., precision public health. Precision public health uses data from traditional and emerging sources to target interventions for populations by person, place,...

The Long Road to Population-based Genomic Screening

Since 2012, the CDC Office of Genomics and Precision Public Health (OGPPH) has identified three autosomal dominant conditions for which there exist evidence-based recommendations to prevent morbidity and mortality from either cancer or heart disease. Using our evidence-based framework, we have collectively labeled the following conditions as tier 1...

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