Improving the Diagnostic Odyssey for Rare Disease Patients

July 29, 2021

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)

Presentation: Improving the Diagnostic Odyssey for Rare Disease Patients

Event Resources

Key Resources

(listed chronologically, beginning with the most recent)

“Addressing the Diagnostic Journey for Rare Disease Patients.” Ganesan, N., Day, D. Avalere. July 1, 2021. Available here.

“NIH Reddit ‘Ask Me Anything’ on Rare Diseases.” National Center for Advancing Translational Sciences. U.S. Department of Health and Human Services. February 25, 2021. Available here.

“Rare Disease Facts.” National Organization for Rare Disorders. 2021. Available here.

“Barriers to Rare Disease Diagnosis, Care and Treatment in the U.S.: A 30-Year Comparative Analysis.” The National Organization for Rare Disorders. November 19, 2020. Available here.

“Rare Diseases, Genomics and Public Health: An Expanding Intersection.” Khoury, M, Valdez, R. Centers for Disease Control and Prevention. February 17, 2016. Available here.

Additional Resources

(listed chronologically, beginning with the most recent)

“Charting the Path Forward for Equity in Rare Diseases.” The Rare Disease Diversity Coalition. 2021. Available here.

“Patient Stories.” The Rare Disease Diversity Coalition. 2021. Available here.

“The Future of Rare Disease R&D: Protecting Progress, Achieving Access.” FasterCures. December 7, 2020. Available here.

“Everylife Foundation Releases New Study Revealing Economic Burden of Rare Diseases in the U.S. Approached $1 Trillion in 2019.” Dornan, B. Everylife Foundation for Rare Diseases and The National Economic Burden of Rare Disease Study. February 2020. Available here.

“Orphan Drug Utilization and Pricing Patterns (2012 – 2014).” America’s Health Insurance Plans. October 21, 2016. Available here.

“How Patient-Centered Outcomes Research Helps Families with Rare Diseases.” Patient-Centered Outcomes Research Institute. February 29, 2016. Available here.

“Policymaking for Orphan Drugs and Its Challenges.” Rhee, Taeho Greg. Journal of Ethics | American Medical Association. August 1, 2015. Available here.

“Rare Diseases and Orphan Products: Accelerating Research and Development.” Field, M., Boat, T. Committee on Accelerating Rare Diseases Research and Orphan Product Development. 2010. Available here.

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Linda Goler Blount, MPH
Black Women’s Health Imperative, President and CEO

Nelly Ganesan, MPH
Avalere, Principal

Matthew Might, Ph.D.
University of Alabama-Birmingham, Hugh Kaul Precision Medicine Institute, Professor, Department of Medicine Director

Stephen Kingsmore, M.D., DSc
Rady’s Children’s Institute, President and CEO

Experts and Analysts

Aaron Goldenberg, Ph.D., MPH
Center for Genetic Research Ethics and Law at Case Western Reserve University School of Medicine, Associate Director

Brendan C. Lanpher, M.D.
Mayo Clinic, Clinical Geneticist

Holly K. Tabor, Ph.D.
Stanford University Department of Medicine, Associate Professor of Epidemiology and Population Health


Christopher P. Austin, M.D.
National Institutes of Health’s National Center for Advancing Health Translational Sciences, Former Director; Flagship Engineering, CEO-Partner

Dan Kastner, M.D., Ph.D.
National Human Genome Research Institute, Scientific Director

Anne R. Pariser, M.D.
National Center for Advancing Translational Sciences, Office of Rare Diseases Research Director


Matt Eyles, M.S.
America’s Health Insurance Plans (AHIP), President and CEO

E. Gay Grossman
Neurogene, Inc., Director of Patient Engagement;, Co-Founder

Danny Miller
MEPAN Foundation, CEO; Illumina Rare and Undiagnosed Genetic Diseases, Patient Ambassador

Julia Jenkins, MA
EveryLife Foundation for Rare Diseases, Executive Director

Rachel Sher, J.D., MPH
National Organization for Rare Disorders, Vice President, Regulatory and Government Affairs

Marshall Summar, M.D.
Children’s National Rare Disease Institute, Director

Grace Whiting, J.D.
National Alliance for Caregiving, President and Chief Executive Officer

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This is an unedited transcript.