User: CIUSSS du Saguenay−Lac-Saint-Jean
This project aims to analyze the DNA and genealogy of patients prior to their consultation with a physician. Population-scale genetic and genealogical analyses will be conducted to guide the geneticist toward specific genetic mutations, whether known or unknown, that may cause rare diseases with higher prevalence due to the founder effect in the Saguenay–Lac-Saint-Jean region.
Currently, some patients undergo numerous consultations and multiple genetic tests before obtaining a diagnosis, generating significant costs for the healthcare system. These delays also have societal consequences, particularly when patients, due to their health conditions, face challenges in daily activities or are unable to join the workforce. Furthermore, the lack of reliable genetic data can lead to diagnostic errors, sometimes resulting in expensive and ineffective treatments.
This project will help reduce diagnostic delays and associated costs. Accelerated diagnoses will provide patients in the region with faster access to more appropriate care, services, or treatments. Consequently, this initiative will improve patients’ quality of life, slow the progression of certain diseases, and decrease societal costs related to patients’ inability to fully participate in active life.