RareDirect- Patients Inspired Change

Rare disease patients do not receive timely genetic diagnosis due to many barriers. Despite the abundant data published about the diagnostic odyssey, most of it presents the perspectives of stakeholders other than the patients, such as health care providers and researchers.
We learned that beyond the lengthy process of the diagnostic odyssey, patients and caregivers are also negatively impacted by various challenges in their experiences. This includes communication problems with physicians, the difficulty in getting a referral to genetic testing, and the need for support in understanding the scientific information on their disease. Understanding these experiences of this patient population would help us describe the overall needs of Canadian patients with rare diseases as they navigate through their diagnostic odyssey.

Rare disease patients do not receive timely genetic diagnosis due to many barriers. Despite the abundant data published about the diagnostic odyssey, most of it presents the perspectives of stakeholders other than the patients, such as health care providers and researchers.

We learned that beyond the lengthy process of the diagnostic odyssey, patients and caregivers are also negatively impacted by various challenges in their experiences. This includes communication problems with physicians, the difficulty in getting a referral to genetic testing, and the need for support in understanding the scientific information on their disease. Understanding these experiences of this patient population would help us describe the overall needs of Canadian patients with rare diseases as they navigate through their diagnostic odyssey.

Capstone Summary:

Patients with rare diseases are a unique patient population not only because of their medical challenges, but also because they are often burdened by the difficulty of finding a diagnosis. Those impacted by rare diseases are struggling to manage their (or their child’s) condition. Without knowing the root cause of their disease, they often feel lost and frustrated in this situation. Receiving a diagnosis is crucial as it can lead to more targeted treatments, slow the disease progression, and contribute to the patients’ sense of control over their condition. Diagnosis also grants patients access to certain services and support systems that can improve their disease management. The search for diagnosis can be extremely long and difficult and is referred to as a diagnostic odyssey. Currently, the average duration of the diagnostic odyssey for rare genetic conditions is 4.8 years, during which patients and their families are heavily burdened emotionally, physically, and financially. This is also a burden on the healthcare system and society as a whole.

Capstone Team: 

Mrs. Renee Hofstedter, BA Psychology MS Education BA Psychology MS Education

Bnos Bais Yaakov Bnos Bais Yaakov
High School Biology Teacher High School Biology Teacher

 

Ms. Weixi Li, HBSc. Molecular Biology HBSc. Molecular Biology


 

Mrs. Anat Segal-Shalev, BSc. Pharm BSc. Pharm

Roche Roche
Quality Assurance Pharmacist Quality Assurance Pharmacist

 

Capstone Supervisor:

Prof. Joseph Ferenbok, PhD

Translational Research Program Temerty Faculty of Medicine University of Toronto
Revolutionary Translator Director

Capstone Advisory Committee:

Nicholas Watkins, MSc, MSc, CCGC, CGC

UHN
Genetic Counsellor

Prof. Lucy Osborne, MSc PhD

Medicine and Molecular Genetics
Genetic Disorder Translator IMS Liaison & Graduate Coordinator

Robin Hayeems, PhD, ScM

SickKids
Scientist

"In the TRP, you’re engaged as soon as you learn the material. You’re immediately putting what you learn into practice in and outside of class.”

 - Katie Tucker, Cohort 2017