People with rare diseases often face a long and emotional search for a diagnosis. They’ll typically see several clinicians, undergo myriad tests and, all too often, spend years in the pursuit of the answer. While genetic testing has offered hope to many, the average time from the onset of symptoms to an accurate diagnosis is about five years, according to the Global Commission to End the Diagnostic Odyssey for Children with Rare Diseases. Some patients still face the prospect of never getting one. ‘Odyssey’ is clearly an apt metaphor for what many patients and their families experience.