The rare disease patient undergoes a diagnostic odyssey that takes five to eight years on average, but it often takes some patients even longer to reach an answer. Even with a diagnosis, therapies for people living with rare diseases are only available for 5% of more than 7,000 known rare diseases. To reach diagnosis, patients face hurdles unique to rare diseases, including lack of experts or experts in distant geographic regions, limited diagnostic tools, and misdiagnoses due to rare diseases’ complex presentations.
Many stakeholders are engaged in overcoming these barriers. Legislative and regulatory efforts seek to encourage genetic testing and counselling at federal and state levels, while efforts to increase newborn screening and the use of other new and emerging technologies – like artificial intelligence – are underway.
Experts will convene on methods to shorten the rare disease diagnostic odyssey. The panel will include representatives from the patient community, academia, physicians, and policymakers.