Value proposition

Helping people with rare genetic diseases get answers.

Probably Genetic helps undiagnosed rare disease patients find answers to their symptoms in a matter of weeks.

There are over 400 million people worldwide that have a rare disease — more than cancer and HIV patients combined. Half of those patients are currently undiagnosed and half of them are children, and it takes 5-7 years on average for these patients to get a diagnosis. With our system, patients can get answers in a matter of weeks.

Our online Symptom Checker identifies rare disease patients using state-of-the-art machine learning models, gets them tested through our direct-to-consumer genetic testing service, and helps connect these patients to potentially life-saving treatments and advocacy communities. We partner with drug developers to offer sponsored testing programs that allow patients to access genetic testing for little to no cost.