ThinkGenetic SymptomMatcherTM Diagnostic Aid Tested for Patients with Fabry Disease in Study by Emory University School of Medicine, Grady Memorial Hospital and University of Georgia College of Pharmacy
ThinkGenetic today announced the acceptance of scientific abstract “Decreasing the diagnosis odyssey of patients living with Fabry disease via a patient-centered innovative web-based platform” at the 2018 14th Annual WORLDSymposium™. The poster will be presented during a moderated session held on February 7, 2018 from 4:30-6:30pm PST.
The symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and those interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.
Multi-systemic Fabry disease signs and symptoms can be non-specific and may be misdiagnosed or attributed to other chronic health conditions. Recent articles report that the time from first symptom to diagnosis in Fabry disease can be greater than 15 years for both males and females.
In this validation study, initial presenting Fabry symptoms captured from medical record review, published data, and patient or caregiver recall will be analyzed via ThinkGenetic SymptomMatcher (SM), a web-based, patient-friendly algorithm that aims to reduce the time to diagnosis by identifying possible genetic disorders that could be considered for evaluation and testing by a healthcare professional.
The captured symptoms will be abstracted to identify the key descriptive terms, in lay language, used by patients/caregivers that they would type into a web browser. Additional data collected will include current age, gender, and at what age symptoms occurred. This collected data will be used to test the validity of SymptomMatcher in helping reduce time to diagnosis for patients with Fabry disease.
The study was conducted in conjunction with Morgan Simmons, MMSc and Dawn Jacob Laney, MS, CGC, CCRC of Emory University School of Medicine, Carol Ogg, BS Pharm at Grady Memorial Hospital, and Taylor Mitchell at University of Georgia College of Pharmacy. Carol Ogg, BS Pharm will present the study findings.
The 14th Annual WORLDSymposium takes place February 5 – 9, 2018 at the Manchester Grand Hyatt San Diego, 1 Market Place, San Diego, California, USA, 92101. For more details go to: https://www.worldsymposia.org/.