Early Diagnosis of a Rare Disease

In the world of rare diseases it has been said that, “a disease isn’t rare, it’s just rarely diagnosed.” And there’s the rub with properly managing patients with rare diseases.

In recent years, the number of FDA approvals for therapies to treat rare disorders has steadily increased; nearly half of all novel drugs approved in 2015 are indicated for a rare disease. Yet, while 1 in 10 Americans are afflicted with a rare condition, it often takes several years for a patient with a rare disease to receive a proper diagnosis. 

With new therapies coming to market, it is more important than ever to shorten the characteristically long delay in the time to diagnosis of many rare diseases and identify patients who are ideal candidates for these medicines earlier than the health care system is finding them now. At 81qd we have developed Orion™, the industry-leading analytic platform that uses machine learning technology and health care encounter data to help identify patients with a high probability of having a specific rare disease so that they can ultimately be screened and clinically diagnosed. Orion learns and understands a patient’s journey through the health care ecosystem by identifying patterns in a patient’s history and predicting the probability of that patient living with a specific rare disease.

By shortening the time from symptom onset to diagnosis, patients receive effective treatment sooner, physicians can feel confident that they are treating patients with the appropriate therapy, payers no longer have to reimburse for medicines prescribed for a misdiagnosed patient, and pharma companies can get the innovative rare disease drugs they developed to the right patients.