Finding Rare Disease Patients

A pharma client with a therapy for hereditary ATTR amyloidosis sought to accelerate identification of patients. The client had a sponsored genetic test to confirm diagnosis of hATTR amyloidosis. They partnered with an advanced analytics company to develop a model to identify patients likely to have hATTR amyloidosis so they could be administered the genetic test. To train and validate this model, the client needed a cohort of patients who had already taken the test, with their test results linked to their medical and pharmacy claims.

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