It is estimated that 3.5-5.9% of the population has a rare disease. 71.9% of rare diseases are genetic. With the advent of whole-genome sequencing and other genomic testing, the cause of many genetic disorders can be found. Treatments for these disorders are appearing regularly. Rx-Genes.com provides information about current treatments and treatments that are in clinical trials for genetic diseases.
Rx-Genes.com 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.com, 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.com can be used as a source for these references.
Not all genetic disorders in Rx-Genes.com have a published frequency. Only 438 out of 800 genes have disease frequency data, and only 423 out of 780 among children. The sum provided includes only genes with published frequencies, and therefore, it is an underestimate of the frequency of treatable genetic diseases in the general population. At the time of this site update (8/20/24), the aggregate treatable disease frequency was approximately 1/44 (2262.52 per 100,000) across all ages and 1/160 (624.73 per 100,000) for children.