It is estimated that 3.5-5.9% of the population have a rare disease. 71.9% of rare diseases are genetic. With the advent of whole genome sequencing and other genomic testing, the cause for many genetic disorders can be found. Treatments for these disorders are appearing regularly. Rx-Genes provides information about current treatments and treatments that are in clinical trials for genetic diseases.
Rx-Genes is designed for physicians, clinical molecular laboratory directors and other health care providers who are looking for information related to the treatment of genetic disorders and the supporting literature. The site is focused on genetic disorders where treatment is directed against the mechanism of disease rather than disorders where management is symptomatic. An article describing Rx-Genes, An Online Compendium of Treatable Genetic Disorders, provides more details.
The American College of Medical Genetics and Genomics (ACMG) has updated its technical standards for clinical laboratories performing next-generation sequencing for constitutional variants. The technical standards note, “When reporting a gene associated with a treatable genetic disorder the laboratory should consider the addition of a reference to the treatment in the report. This is currently recommended in cancer testing reports.” Rx-Genes can be used as a source for these references.
If you wish to see the sum of all disease frequencies for all genes select Gene Name in the search (select) dropdown. Enter the word: all (for all ages) or core (for individuals less than 18 years old (children)). Not all genetic disorders in Rx-Genes have a published frequency. Only 423 out of 747 genes have disease frequency data and only 408 out of 727 among children. The sum provided only includes gene with a published frequency and therefore it is an underestimate of the frequency of treatable genetic diseases in the general population. At the time of this site update (9/17/23) the aggregate treatable disease frequency was approximately 1/45 (2213.43 per 100,000) across all ages and 1/175 (571.64 per 100,000) for children.
