What is a Disease Concept Model?

A disease concept model is a comprehensive view of a disorder, including a complete characterization of all the symptoms and resulting impacts on affected individuals and their families. These results help to inform healthcare providers treating patients with the disorder, as well as the families of affected individuals. The symptoms and impacts identified as most important by families also serve as important targets when determining clinical trial endpoints.

Genetic counseling students from several accredited universities in Master's Degree programs can choose to do a disease concept study on a rare genetic disease. They review the literature that's been published about the disorder and interview around 15-20 caretakers of affected individuals, educators, and clinicians. This information is thematically coded, and the results are mapped and compared to published literature. Results are then published in a peer-reviewed journal. The cost of a study is $10,000 and each study takes approximately two years to complete.

Example conceptual models:

• Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome
  
• A Draft Conceptual Model of SLC6A1 Neurodevelopmental Disorder
• A disease concept model for STXBP1-related disorders 
  

Most Recent Completed/In-Process Conceptual Models

Submit A Disease Concept Study Request (PAGs Only)