Establishing a leadership platform in rare disease

With its expanded rare disease portfolio, Takeda (formerly Shire) wanted to establish itself as a leader in rare disease with a major focus on improving the lives of patients. The prolonged time to diagnose a rare disease – a multi-faceted problem – is one of the most serious challenges facing patients and caregivers. More than 300 million people worldwide are living with a rare disease (50% of these diseases appear in childhood) and it can take an average of five years to get an accurate diagnosis, even in countries with sophisticated health systems.

The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease – chaired by Takeda, Microsoft and EURORDIS – developed a roadmap to harness the power of technology and the passion of families to shorten the patient journey to diagnosis. The actionable recommendations focused on 1) empowering patients and families, 2) overcoming workforce shortages (especially medical geneticists), and 3) reimagining traditional health practices to speed up the time for an accurate diagnosis. As the Secretariat, we:

• Created the vision, charge, and focus for the Global Commission
• Determined the key barriers to diagnosis and potential solutions, especially related to technology innovation
• Identified and helped recruit a diverse set of geneticists, researchers, patient advocates, and technologists from around the world
• Developed the Commission’s report and actionable recommendations