Use in clinical context
It can take a long time for patients to receive a diagnosis for rare conditions, often because the rarity of the condition means that there are few (if any) other affected individuals for clinicians to draw experience from.
On the journey to a diagnosis, individuals will often have many different medical tests, some of which can be invasive and painful. These all contribute to the patient’s diagnostic odyssey, which can last a number of years and include many misdiagnoses.
Genomic testing can help to deliver a final diagnosis and end the diagnostic odyssey. Although genomic testing is minimally invasive (usually only a blood sample is required), it can still take a long time to receive a diagnosis due to the size of the genome and the amount of data analysis that is required. Even after genomic testing, not all patients receive a diagnosis.