Introducing the Rare Diseases Genomics and Precision Health Knowledge Base
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For the past three years, The CDC Public Health Genomics Knowledge Base (PHGKB) has been tracking the public health impact of advances in genomics and precision technologies. Every day, we provide new information and publications for researchers, health care providers, policy makers, and the general public. We also offer access to the latest epidemiologic and implementation studies, guidelines and recommendations by professional organizations and government agencies, and clinical and public health tools and programs on various diseases.
Our newest component of PHGKB, the Rare Diseases PHGKB, is focused on the public health impact of genomics and precision medicine on rare diseases. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Rare diseases, as a whole, affect about 25 million people in the United States and about 400 million worldwide. They can have severe health impacts on affected patients and their families, including physical and intellectual disabilities and premature death.
Rare diseases, as a whole, affect about 25 million people in the United States and about 400 million worldwide. While rare diseases account for less than 10% of the burden of disease in the population, a few of them have had the lion’s share of public health translation and implementation.
Rare diseases include many single gene disorders such as Huntington disease and Duchenne Muscular Dystrophy; many childhood and adult diseases, such as Guillain-Barré syndrome and Crohn’s disease; and some childhood cancers and infectious diseases. The economic impact of rare diseases is substantial not only for affected patients and their families, but for society as a whole.
In the past few years, the influence of genomics on rare diseases has been substantial. For many, the precise causes remain unknown. For more than 5,000 Mendelian conditions, researchers have found underlying genetic causes. Because of the rarity of these conditions, many affected patients experience delays in diagnosis, otherwise known as the “diagnostic odyssey”. For many rare infectious diseases, pathogen genome sequencing has substantially affected public health activities in tracking and solving outbreaks, conducting public health surveillance, assessing mechanisms of antimicrobial resistance, and developing better vaccines.
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 more than 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 new database also provides linkages to state public health genomics programs and activities.
Currently, the Rare Disease PHGKB database has information on more than 5000 conditions. About 90% of the conditions have 10 PHGKB records or less, highlighting the rarity of these conditions and the large knowledge gaps in epidemiology, implementation and public health. For 94 conditions, there are 100 or more PHGKB records. By searching the Rare Diseases PHGKB, we also found that compared to total PHGKB records, the rare disease PHGKB has about 25% of the all human genome epidemiology studies, 27% pathogen genomic studies, 28% of guidelines, and 67% of state public health program documents in PHGKB, respectively. This illustrates that while rare diseases account for less than 10% of the burden of disease in the population, a few of them have had the lion share of public health translation and implementation. We highlight a few conditions with the most PHGKB content on the website.
We encourage interested PHGKB users to search our new database and provide feedback on what information could be added and direct linkages made to other sources of information, such as the NIH Genetic Testing Registry or the Online Mendelian Inheritance in Man (OMIM) database.
Please submit your comments here.
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