Improving Diagnostic Pathways for Rare Disease Patients

Improving Diagnostic Pathways for Rare Disease Patients

Monday, April 10, 2017 - 11:00am


It can take longer to diagnose rare diseases than many common diseases. On average, rare disease diagnosis takes 7.6 years in the U.S. and 5.6 years in the UK. Rare diseases such as the primary immunodeficiency (PI) disorders Gaucher disease, Fabry disease, and Hunter syndrome can be devastating, as they are difficult to detect and equally difficult to treat. 60,000 Our U.S. patient assistance programs reached approximately 60,000 patients. We have 37 programs in clinical development, the most robust pipeline in Shire’s history. We invested $1.3bn in targeted R&D during 2016, representing 11 percent of Shire’s revenue.

In 2016, we expanded our free diagnostic testing in more than 50 countries to identify Fabry, Gaucher, and Hunter patients. The service provides physicians with a free diagnostic kit, comprised of a Dried Blood Spot (DBS) card, return envelope, and optional patient consent form. This year, 85,356 tests were performed, 139 percent more than in 2015, and the testing identified 1,164 new patients, an increase of 63 percent from 2015.

We also partnered with the U.S.-based Jeffrey Modell Foundation (JMF) in 2016 to develop software to flag patients at high risk of PI disorders in the U.S. This program has increased the average annual number of patients diagnosed by 79 percent. We also worked with JMF, the International Patient Organization for Primary Immunodeficiencies, and other organizations to support newborn screening in a number of countries for SCID (Severe Combined ImmunoDeficiency), one of the most severe forms of PI.

To read more about our commitment to rare disease patients, see our 2016 Annual Responsibility Review.