Rare Disease Day 2022: The Evolving Impact of Genomics and Precision Health

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia

In celebration of Rare Disease Day 2022, we reprint excerpts of four previous blogs.

Rare Disease Day 2022 with a ribbon and a map of the worldRare Diseases, Genomics and Public Health: An Expanding Intersection (February 17, 2016)

Rare Disease Day is celebrated on the last day of February each year. On that day, millions of patients and their families around the world share their stories in order to raise awareness about rare diseases and their impact.

There are thousands of diseases that are individually rare but collectively common. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people, and rare diseases as a whole affect about 25 million people in the United States, and about 400 million worldwide. They can have severe health impact on affected patients and their families, including physical and intellectual disabilities and premature death. Examples of rare diseases include Huntington disease, fragile X syndrome, Guillain-Barré syndrome, Crohn disease, and Duchenne muscular dystrophy. In addition, the economic impact of rare diseases is substantial not only for affected patients and their families, but for society as a whole.

What does genomics have to do with rare diseases? Most rare diseases have a genetic and/or congenital cause. To date, more than 7,000 rare diseases have been described, although the precise genetic causes for many of them remain unknown. For about 4,300 Mendelian conditions, researchers have found underlying genetic causes. Because of the rarity of these conditions, many affected patients often go through the “diagnostic odyssey” i.e. bouncing between providers and specialists, often for years without an appropriate diagnosis or treatment

The Need for a Next-Generation Public Health Response to Rare Diseases (February 8, 2017)

Despite the suspected large number of adults and children affected by rare diseases, estimates of the public health burden of rare diseases are still unreliable. It may well be that sheer fragmentation makes rare diseases virtually invisible to many public health researchers.

Now, let us assume that we can make the burden of rare diseases visible on a large scale. Then, what is next for public health? What should be the societal response? Through the years, both the societal and public health responses to rare diseases have been substantial, although still insufficient. We discuss ways to improve these responses, but first we highlight ongoing large-scale activities that address rare diseases collectively: newborn screening, legislation, and formulation of national plans or strategies.

Newborn screening started in the United States more than 50 years ago with testing for a single genetic disorder (phenylketonuria). Today, newborn screening is a complex public–private system that involves education, diagnosis, treatments, follow-up, and evaluation. In the United States, the number of genetic, metabolic, and other disorders recommended for testing either in dried blood spots or through point-of-care testing has grown to more than 30. By focusing on mostly rare, serious conditions for which there is evidence that outcomes can be prevented or ameliorated by early intervention, newborn screening has brought tremendous health benefits to the individuals affected, their families, and society at large.

A public health response to rare diseases needs a framework to operate in a coordinated manner. One such framework that has been proposed contains nine elements that can be distilled into five overarching components: (i) assessment of burden—numbers of affected individuals, health outcomes, quality of life, health-care use, and economic costs; (ii) research on preventable causes and effective treatments; (iii) systems for screening and early identification; (iv) empowerment and education of people with rare diseases, families, and health-care providers; and (v) public policies to promote access to services and treatments for people with rare diseases. Naturally, the focus of this public health framework should be rare diseases or elements of their sequelae that can be prevented through population interventions. However, as is the case of many genetic diseases, primary prevention is not always possible for rare diseases; therefore, we must consider secondary prevention a key element of this framework.

The CDC Rare Diseases Genomics and Precision Health Knowledge Base (April 4, 2019)

In 2019, we launched the Rare Diseases Public Health Genomics and Precision Health Knowledge Base (PHGKB) as a component of our overall PHGKB. Rare Diseases PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases.

The National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health has led research efforts to find effective interventions such as new and repurposed medications to reduce the burden of rare disease. NCATS has developed the Genetic and Rare Diseases Information Center (GARD) to provide the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases. An online GARD database provides accurate, up-to-date information about ongoing research, symptoms, treatment options, and other details. Sources for GARD and other hard-to-find information include the National Library of Medicine, scientific conferences, support groups, and clinical trials and research.

In creating the Rare Diseases PHGKB, we sought to connect directly the GARD database A-to-Z list of  5000 rare diseases with contents of PHGKB, such as epidemiologic studies of prevalence and gene-disease associations, translation and evaluation studies of interventions, implementation research studies, as well as systematic reviews and guidelines. The database also provides linkages to state public health genomics programs and activities.

Rare Diseases and COVID-19: The Latest Information at Your Fingertips (December 21, 2020)

In recognition of the potential for genomics and precision health technologies 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 February 28, 2022, the portal contained more than 32,000 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 on the differential impact of COVID_19 on persons with rare diseases and selected genetic diseases,. The knowledge base is updated daily and has been viewed extensively since its launch in April 2020.

We encourage our readers to search our Rare Diseases PHGKB and the COVID-19 GPH databases to get the latest information and publications on the impact of genomics and precision health technologies on rare diseases.

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Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags
Page last reviewed: April 9, 2024
Page last updated: April 9, 2024