Trends in CDC Publications in Public Health Genomics, 2012-2016

Public health genomics advances the translation of genome-based discoveries into disease prevention and population health. Scientists at the Centers for Disease Control and Prevention (CDC) are using information about human, vector, and pathogen genomes to tackle diverse public health problems, from newborn metabolic disorders to infectious disease outbreaks. For an overview of CDC publications in public health genomics, we used the Public Health Genomics Knowledge Base (PHGKB), an online resource developed and updated weekly by CDC’s Office of Public Health Genomics (OPHG). We reviewed the PubMed citations in PHGKB for articles published in 2012-2016 with at least one CDC-affiliated author. These 1,368 CDC-authored articles accounted for about 2% of all articles added to PHGKB during that period (Figure 1).

Figure 1: CDC-authored articles in PHGKB by year, 2012-2016

PHGKB contains four collections of PubMed citations, curated separately (Table).

OPHG staff curates the following three collections:

• Genomics & Health Impact Scan features articles on emerging roles of human genomics, testing and interventions in a wide variety of diseases;
• Human Genome Epidemiology (HuGE) Navigator captures articles on human genome epidemiology; and
• Advanced Molecular Detection (AMD) Clips Database includes articles on pathogen genomics and host-pathogen interactions in infectious disease control and prevention.

A fourth collection of CDC-authored articles is identified from the “Genetics and Genomics” category in CDC Science Clips, a bibliographic digest produced by the CDC Library.

*Began in 2014, includes 2014-2016 publications only.

**Excludes articles included in other categories.

AMD Clips accounted for nearly half of all CDC-authored articles in PHGKB in 2012-2016, although it has been compiled only since 2014.

• Articles are selected for AMD Clips if they discuss next-generation sequencing or other advanced molecular techniques applied to infectious disease diagnosis, surveillance, prevention, and control.
• About one-third of all CDC-authored articles in this group related to microbial evolutionary genetics; another 12% (67 articles) reported on outbreak investigations or other studies of disease epidemiology or transmission.

HuGE Navigator and Genomics & Health Impact Scan captured the most CDC-authored articles on human genomics.

• HuGE Navigator included 43 gene-disease association studies, of which five were genome-wide (GWAS); these publications declined in number after 2012.
• Nearly half of the human genomics articles included in the Genomics & Health Impact Scan were either informal reviews or commentaries (26%) or systematic reviews, meta-analyses or modeling studies (22%). Original research studies accounted for another 22%. Cancer was the most commonly discussed disease, followed by asthma and cardiovascular diseases.

Figure 2. CDC-authored articles related to genetics or genomics, 2012-2016

Most articles published by CDC authors in 2012-2016—especially those reporting original data—were focused on non-human (mostly pathogen) genomics (Figure 2). Advances in genomics and bioinformatics, including whole genome sequencing are rapidly being integrated into public health surveillance and investigation of infectious disease outbreaks. Other molecular approaches including gene expression profiles, metabolomics and studies of the microbiome offer promise for public health application in the next decade.

On the other hand, the implications of human genome research for public health practice are still unfolding. Population studies of common, chronic diseases have produced few molecular markers that are useful for screening; algorithms that combine genetic information with other risk factors for risk stratification or prediction are still mostly exploratory. Public health scientists have an important role in ensuring that the development of the U.S. precision medicine initiative maintains a population focus. As CDC science continues to contribute to the evolution of “precision public health” PHGKB is available to continue tracking progress and gaps in the field.