Rare diseases pose unique challenges to the health care system. Unlike common diseases that affect millions, such as type 2 diabetes, a rare disease may have only 50 patients worldwide, spanning numerous countries, languages, and cultures. The detection of rare diseases—~75% of which have a genetic basis—is generally difficult and costly, often requiring sequencing technologies that are hard to access. Physicians are frequently trained in the diagnosis and treatment of common disorders, but few receive instruction in rare diseases. The result is a diagnostic odyssey for the patient that often requires years of tests and specialist visits, sometimes ending without a clear diagnosis. The world’s 300-million-plus rare disease sufferers are understandably anxious and frustrated, as are their health care providers.

Rare disease detection is an interdisciplinary and international problem. Building a solution must include internationally agreed-upon diagnostic criteria for each rare disease, patient access to diagnostic technologies, and effective communication strategies between health care workers and patients. In addition, relevant medical databases (e.g., patient DNA data) need to be international, multilingual, and readily accessible, crossing all socioeconomic boundaries. Academia, business, biopharma, artificial intelligence experts, international governmental agencies, and health care organizations will need to be at the table. Most importantly, patient voices need to be heard and honored, giving advocacy groups a central role.

In this webinar discussion, our diverse panel of thought leaders will tackle these issues and suggest a path forward for reforming and rethinking how rare disease detection and diagnosis is done.