2020: A Challenging Year of Progress for Genomics and Precision Public Health

It is time to wrap up an eventful 2020 which unfortunately was dominated by the COVID-19 pandemic. From January 2020 through November 2020, we saw a major increase in visits to our website (> 2.6 million views, compared to 2 million views in 2019 and 1.2 million views in 2018). In our year end blog, we highlight the most popular topic areas on our website, databases and publications.

Precision Public Health: A Young and Evolving Field

Precision public health uses a wide array of big data, including genomics and other biological markers, other digital information, and wearables (e.g. smart watch) to provide more precision in assessing public health burden and needs and developing targeted interventions to communities and subpopulations, that collectively can benefit the entire population and address health disparities. In 2020, we published a review article, as part of a special series on determinants of population health, in which we examined the evolution of the field, its current applications, especially in pathogen genomics. We also reviewed the need for technological and workforce development, and for addressing ethical, legal and social issues.

In 2020, our office continued to analyze and synthesize new information in this field, by identifying evidence-based applications that could benefit the public’s health, informing public health programs, healthcare providers and the general public, and integrating the new science into specific public health programs. Our weekly update summarizes the latest developments in the field and is widely distributed by email and accessed online throughout the year. This year, we have added specific components to our Public Health Genomics and Precision Health Knowledge Base (PHGKB) including Health Equity and Diabetes. As the field continues to grow, many new users took advantage of PHGKB’s expanding capabilities.

COVID-19 and Precision Public Health: The Latest Information at Your Fingertips

The COVID-19 pandemic catalyzed unprecedented basic science, clinical and public health research. The number and pace of scientific publications, both peer-reviewed and preprints continue to increase dramatically. The public health scientific response to COVID-19 has required a mix of traditional and precision public health investigations. Genomic tools are actively being used to track the origin and transmission of the virus around the world, as well as to understand differential host response and complications. This paves the way to therapeutics and vaccines. Beyond genomics, granular data from public health surveillance are being used to target public health interventions. In addition, big data, digital technologies, and wearables have been instrumental in defining the natural history of COVID-19 and identifying prognostic factors through machine learning and artificial intelligence.

In recognition of the potential for precision public health to address COVID-19, in 2020 our office launched the COVID-19 Genomics and Precision Health (GPH) portal – an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that capture the emerging discoveries and applications of genomics, molecular and other precision health tools in the investigation and control of COVID-19. As of December 4, 2020, the portal contained more than 16,000 records (publications and web-based information). The majority of these are concentrated on pathogen genomics, however, a rising number focus on: human genomics, big data technologies, and machine learning/artificial intelligence. The portal provides easy navigation and searches for more specific information (e.g. COVID-19 and: rare diseases, selected genetic diseases, as well as common diseases and risk factors, and health equity). The knowledge base is updated daily and has been visited by tens of thousands of visitors since its launch in April 2020.

Genomics and Precision Health: Updated and New Information on Specific Diseases and Topics

In 2020, we continued to update and add more health topics to our website, including new pages on cystic fibrosis and primary immunodeficiency diseases, both conditions potentially associated with increased risk of COVID-19 complications. We also launched a new page on heart disease, family history and familial hypercholesterolemia, and new pages on epigenetics, and pharmacogenomics, among others. This year, there was an increase in searches on our colorectal cancer and Lynch syndrome page, perhaps reflecting greater interest in the rise of colorectal cancer in young people.

Family Health History: Still a Fundamental Tool for Improving Health

Despite intense interest in COVID-19, family health history remained one of the most popular topics with our web visitors in 2020 including the Surgeon General’s My Family Health Portrait tool. Hosted on our website, the tool has been an important part of public education campaigns and used by millions of people in the United States and around the world. Family health history is important to our own health and can help us detect and manage personal disease risks, or find the right diagnosis and treatments when we have a certain disease. In addition to clinical practice use, family health history has become an important component of public health systems that screen for and serve populations at higher than average risk for disease, such as cancer and heart disease.

For many years we have promoted the value of family health history on Thanksgiving day. By knowing and acting on family health history, we can reduce our disease risks and actually change family health history for future generations. In addition to our COVID-19 efforts, we have continued to raise awareness and provide tools and education about family health history. We also launched a special portal in PHGKB to provide a “one stop shop” to find the latest scientific publications on the role and value of family health history for various human diseases.

Looking Ahead

2020 has certainly been a difficult and challenging year. But even in the midst of the pandemic, science is providing new insights and information that will ultimately preserve and protect health. Perhaps it is befitting that we close the year with renewed hope, as the most promising tool to fight COVID-19, an mRNA vaccine, is a product of technological revolution in the field of genomics.

We want to wish our readers a safe and healthy holiday season. From our family to yours, happy holidays and all the best for 2021.