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The Current Landscape of CDC Publications in Human Genomics and Public Health

['Mindy Clyne', 'W. David Dotson', 'Anja Wulf', 'Muin J. Khoury', 'Office Of Genomics', 'Precision Public Health', 'Centers For Disease Control', 'Prevention', 'Atlanta']

Date: 2022-01-10 00:00:00

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 guide implementation, it is important to assess the current landscape of human genomics work at CDC and ATSDR (Agency for Toxic Substances and Disease Registry). That knowledge will help guide the development of public health use cases and thus the evidence base for public health action and enable CDC and other organizations to translate lessons learned into public health practices that maximize health and save lives.

Since 2011, OGPPH staff have assembled and curated an online, searchable database of CDC/ATSDR publications in human and pathogen genomics. The CDC-authored Genomics and Precision Health Publications Database (GPHPD) has more than 3,600 publications, most of which are in pathogen genomics and advanced molecular detection. This blog post presents an overview of these publications.

GPHPD was screened for CDC/ATSDR-authored publications about human genomics, including articles that assessed non-human genomes (e.g., pathogens, vectors). We included articles published from 2018-2021. This process yielded a total of 1,574 articles. Most articles (n=1,348, or 85.8%) pertained to non-human genomic publications. 156 (9.9%) were identified as human genomics/genetics publications. The remainder were considered non-genomic precision health publications.

All human genomics/genetics articles were coded according to topic and phase of translational research. We defined early phase research as basic or discovery research (T0-T1) and late phase research as applied and implementation research, surveillance, and development of evidence-based guidelines (T2-T4). We also classified the type of publication (i.e., original research, review article, method/tool, guideline, or commentary).

A line listing of all 156 papers is provided in the table below. 103 papers (66%) represented primary research studies, while 53 (34%) were reviews, commentaries, guidelines, cost analyses, modeling studies, etc. 79 (51%) articles reported on early phase research (T0-T1) and 77 (49%) reported on late phase research and programs (T2-T4).

The 156 papers listed 369 CDC/ATSDR authors, an average of about 2.4 CDC/ATSDR authors per publication, representing a total of 242 individuals at CDC/ATSDR. The majority (n = 177, 73%) of authors appeared on only one publication, while most others (n = 56, 23%) authored two or three publications.

Table 1 below shows the breakdown of the papers by the most common topics and by translation phases. For most (6 of 9) of the topics coded, there was a higher proportion of papers reflecting late vs. early phase research. Newborn Screening is perhaps the most classic example of established public health applications of human genomics in practice, and accordingly, this topic had the highest proportion (86%) of late-phase studies (T2-T4). This was followed by birth defects and developmental disabilities, cardiovascular disease, genetic testing, and cancer, which all showed relatively high proportions of later phase translational studies. In contrast, infectious diseases and environmental/occupational exposures reflected much higher proportions of early phase research.

Table 1. Human Genomics Papers by Topic and Translational Phase

aThe “other” category includes papers where the primary focus was not on any of the coded topics above. Additionally, papers that could apply to multiple topic areas, and did not have a primary focus in any single topic above, were placed in the “other” category.Early phase translation (T0-T1) studies correspond to basic and discovery studies, while Late phase translation (T2-T4) studies report on surveillance, applied and implementation research and the development of evidence-based guidelines. Topic Translation Phase Total Early Late Birth Defects and Developmental Disabilities 9 16 25 Infectious Diseases 20 5 25 Environmental and Occupational Exposures 20 0 20 Cancer 7 11 18 Genetic Testing 5 8 13 Cardiovascular Disease 3 7 10 Newborn Screening 1 6 7 Diabetes 3 2 5 Othera 9 24 33 Total 77 79 156

Taken together, the publications demonstrate a rich landscape of human genomics studies affecting many areas of public health and representing almost all CDC Centers, Institutes and Offices An example of a CDC publication within Newborn Screening addressed the recently recommended inclusion of spinal muscular atrophy (SMA) in newborn screening, requiring publicly available and appropriately characterized reference materials with various combinations of SMN1 and SMN2 copy number variants in newborn screening programs. Incorporation of next-generation sequencing technology on dried blood spots from NBS programs is another example. One systematic review of barriers and facilitators to genomic cascade screening for a variety of conditions was especially notable and provided impetus for an upcoming virtual mini-symposium and panel discussion. Other areas of public health represented by the overall OGPPH review process include birth defects and developmental disabilities, common adult chronic diseases such as cancer; heart disease; and diabetes; infectious diseases, vaccines, and environmental and occupational exposures.

Going forward, an important focus of the new initiative is to extend CDC work into research, surveillance, and programs that promote equitable implementation and measure population health outcomes. Our immediate next step is to support exemplary applied public health research at CDC, including:

Public Health Investigations: The new initiative seeks to strengthen public health’s ability to measure the impact of human genomic variation in selected public health investigations of health threats and community concerns. From infectious disease outbreaks (including but not limited to COVID-19) to environmental exposures and vaccines, the tools of human genomics will allow public health to elevate its ability to identify specific populations at risk from health threats and those that could benefit more from appropriate interventions.

Evidence Reviews and Modeling: The evidence base for integrating human genomics into public health practice needs to be strengthened. This initiative will support evidence analysis, systematic reviews, cost-effectiveness analysis, modeling, and forecasting of the value added and impact of adding specific human genomic applications into public health programs.

Implementation Science: There is also a strong need for community-based implementation science projects that would allow public health and health care to assess how best to implement evidence-based human genomic applications to reduce health disparities and maximize health for all people.

We will update our readers on the overall progress and specific projects throughout the year.

*Review conducted 12/10/2021. Additional publications published in 2021 but after 12/10/2021 are not included in this summary.

[1] Url: https://blogs.cdc.gov/genomics/2022/01/10/the-current-landscape/

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