Rare genetic disease resources
About rare diseases
Rare-X reports that there are as many as ~10,000 rare diseases affecting ~400 million people globally. Over 500 of these rare diseases are treatable.
Orphanet is a catalog of rare diseases and the primary rare genetic disease resource in Europe.
OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is updated daily. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 15,000 genes.
Selecting a diagnostic sequencing test
To find a lab offering clinical whole exome (WES) or whole genome (WGS) sequencing for diagnosing rare diseases, check out the search tool from Concert Genetics or the NIH’s Genetic Testing Registry (GTR). Concert curates information from genetic testing labs and provides a way to compare tests with respect to genes, methods of detection, turn around time and cost. The GTR relies on individual labs submitting information about tests they offer and includes both US and international labs.
Should I order WES vs WGS? The diagnostic yield for WGS is higher than for WES (41% vs 36%) owing to the ability of WGS to detect deep intronic variants, structural variants and repeat expansions. However, the cost of WGS is 2-3 times higher than for WES.
Should I sequence parents too or just the proband (trio vs solo testing)? There is a 2-fold increased odds of finding a definitive diagnosis with trio vs solo testing.
What if I get a negative test result? Select a lab that offers free reanalysis of negative cases. The incremental diagnostic yield is ~10% and the optimal timing is 18+ months after the initial analysis.
No cost testing options
Organizations offering free whole genome/exome testing:
Organizations offering free ‘sponsored’ genetic testing for specific disorders:
Management of rare diseases
Management guidelines
Genereviews is expertly curated and structured around categories that are useful for physicians for the diagnosis and management of patients and their family members.
Interventions
GTRx includes acute management recommendations for >340 genes and >450 conditions to guide management of critically ill newborns, infants and children with newly diagnosed genetic diseases. Developed by Rady Children’s Institute for Genomic Medicine.
Rx-Genes is an online compendium currently containing 633 disease entries with references to disease information and treatment guidance, and a link to experimental treatments if they exist.
Clinical trials
Genetic alliance disease info search is a consumer-facing directory of more than 10,000 diseases, with up-to-date information about current support, research, clinical trials.
Connecting with others
Want to learn more about rare disease? Take our free online course.
Join Dr. Jeanette McCarthy at one of our upcoming hands-on, interactive workshops. Sign up for our mailing list to learn where we’ll be next.