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300 million people worldwide live with a rare disease. Most wait an average of 5-7 years for a diagnosis. It doesn't have to be this way.
There are over 7,000 known rare diseases, and new ones are described regularly. Approximately 80% have a genetic basis. A condition is considered rare in the US when it affects fewer than 200,000 people, but collectively rare diseases affect 25-30 million Americans — nearly 1 in 10.
The diagnostic odyssey — the years-long journey from first symptoms to accurate diagnosis — is one of the most painful experiences in medicine. Patients see an average of 7 physicians before receiving a correct diagnosis. Many are misdiagnosed multiple times. Some never receive a diagnosis at all.
Exome and genome sequencing have transformed rare disease diagnosis. Comprehensive genomic testing achieves diagnostic yields of 25-40% in previously undiagnosed patients, ending years of uncertainty and enabling targeted management, accurate recurrence risk counseling, and connection to disease-specific communities and clinical trials.
For patients who remain undiagnosed after exome/genome sequencing, advanced approaches include RNA sequencing (to detect splicing defects), long-read sequencing (for structural variants and repeat expansions), metabolomics, and periodic reanalysis of existing genomic data as new gene-disease associations are published.
Ehlers-Danlos syndromes, Marfan syndrome, Loeys-Dietz syndrome, osteogenesis imperfecta. Clinical overlap makes genomic confirmation essential.
Rett syndrome, Angelman syndrome, rare epilepsies, leukodystrophies. De novo variants are common; trio sequencing has the highest yield.
Over 1,000 inborn errors of metabolism. Many are treatable when diagnosed — making early genomic diagnosis potentially life-saving.
Primary immunodeficiency disorders (~450 known). Genomic diagnosis enables targeted therapy including gene therapy for some conditions.