RAREhealth Exchange is an undergraduate collaborative that assists clinicians, patient services organizations and researchers to define natural histories of rare diseases. We do this by helping assess and score rare disease patient medical records. Here is a link to our PLoS One paper on how undergraduate students can help with defining natural histories.Natural histories are important because they define what a disease is. They are also used to determine whether experimental therapies are working. Rare disease patient medical records are an invaluable source of natural history but remain under-utilized due to insufficient resources.
Over the course of a one semester (10 week) class juniors and seniors in premedical and science tracks at the University of Notre Dame are trained to become clinical experts in a rare disease. They are also trained in HIPAA and other privacy procedures for protecting patient medical data. The students subsequently assess patient medical records to assist in defining the natural history of a rare disease. We have demonstrated this is feasible in a recent paper, Defining Natural History: Assessment of the Ability of College Students to Aid in Characterizing Clinical Progression of Niemann-Pick Disease, Type C. In a follow up class, we have developed a secure, in-class process by which trained undergraduates assist rare disease patients with the submission of their medical records. For participating families we provide a password protected electronic copy of their entire medical record. We also summarize the patient medical record in a standardized format that allows hundreds of pages of medical records to be condensed in a 2-3 page document that can be easily assessed by a physician in a short visit and thus be helpful to both families and clinicians. All of our work is done in collaboration with clinicians, patients, patient services organizations and researchers. We accept records of current patients as well as those who have passed. We do not release any patient medical records. All of our procedures are reviewed and approved by the University of Notre Dame’s Institutional Review Board. If you are a rare disease patient, clinician, student and have a project that trained undergraduates might be able to contribute to, we’d be interested in learning about it. Please contact Marisa Truong (firstname.lastname@example.org) to set up a phone appointment.