Improving the Diagnostic Odyssey for Rare Disease Patients

In the United States, it is estimated that 1 in 10 Americans are affected by rare diseases, which is defined as any disease that affects fewer than 200,000 Americans at any given time. In order to obtain a clinical diagnosis, many patients undergo a process called the diagnostic odyssey. This process begins when a patient first recognizes a symptom, or set of symptoms, and seeks a diagnosis from a medical professional, although receiving an accurate diagnosis can take an average of 7 years. Patients, caregivers, and clinicians face a unique set of challenges throughout this so-called diagnostic odyssey, including lack of treatment and diagnostic innovation integration into clinical practices, insufficient clinician education, and access to equitable care. These challenges lead to a greater emotional and economic burden on patients and caregivers and put greater strain on the health care system.

This briefing will overviewed what rare diseases are and how we classify them, what populations rare diseases impact, and focused on the challenges and potential solutions to better improve the diagnostic odyssey as outlined in the recent publication “Addressing the Diagnostic Journey for Rare Disease Patients.”


  • Nelly Ganesan, MPH, Principal, Avalere Health
  • Linda Goler Blount, MPH, President & CEO, Black Women’s Health Imperative
  • Stephen Kingsmore, M.D., DSc, President and Chief Executive Officer, Rady Children’s Institute for Genomic Medicine
  • Matt Might, Ph.D., Professor, Department of Medicine, Director, Hugh Kaul Precision Medicine Institute
  • Sarah J. Dash, MPH, President and CEO, Alliance for Health Policy (moderator)