Driving dialogue to improve the diagnostic journey for diverse patients

Two years ago Takeda published a white paper, “Reducing Time to Diagnosis for People Living with Rare Diseases: A Conversation on US Policy Opportunities¹.” The company remains committed to building upon this work.

That is why in February 2023, we proudly partnered with NORD, National Organization for Rare Disorders to host a round table discussion exploring the additional barriers patients from diverse backgrounds in the U.S. face in receiving a proper rare disease diagnosis. This conversation will help us provide policy recommendations and highlight opportunities to improve equity in diagnosis for these patients.

Obtaining a timely diagnosis can be incredibly difficult^2,3. While the diagnostic journey can be long due to the difficulty of identifying and diagnosing rare diseases, it may be further complicated by health inequities, the unfair and avoidable differences in health status seen within and between groups of people and rooted in the social determinants of health⁴. Although each specific rare disease affects a small percentage of the population, together rare diseases are a significant public health challenge, impacting more than one in ten Americans. For patients from diverse and marginalized backgrounds living with rare disease, their struggle may be amplified within the healthcare setting⁵.

This roundtable discussion provides us with an opportunity to dig deeper into the issues faced by different communities and we’re excited to present our recommendations on how to address the challenges over the summer of 2023.

References

¹ Takeda. Reducing Time to Diagnosis for People Living with Rare Diseases: A Conversation on U.S. Policy Opportunities. https://www.takeda.com/4aaf33/siteassets/system/what-we-do/areas-of-focus/rare-diseases/reduce-time-to-diagnosis-improve-access-to-care/reducing-time-to-diagnosis-2.pdf.

² Rare Diseases International. Diagnosis. [internet; cited February2023]. Available from: https://www.rarediseasesinternational.org/diagnosis/

³ Marwaha, S., Knowles, J.W. & Ashley, E.A. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med 14, 23 (2022)

⁴ Rare Diseases International. Health Equity and Access. [internet; cited February 2023]. Available from: https://www.rarediseasesinternational.org/health-equity/

⁵ World Health Organization. Social determinants of health. [internet; cited February 2023]. Available from: https://www.who.int/health-topics/social-determinants-of-health#tab=tab_1