User: CIUSSS du Saguenay-Lac-Saint-Jean
In Quebec, a few rare genetic diseases are more common in certain regions compared to the rest of the world due to founder effects. This is the case in Saguenay-Lac-Saint-Jean, Charlevoix, and Haute-Côte-Nord, where 14 rare diseases are prevalent and pose significant health and survival risks due to limited or nonexistent treatments. Since 2010, a simple and accessible genetic test has been offered free of charge to individuals with at least one grandparent from Saguenay-Lac-Saint-Jean, Charlevoix, or Haute-Côte-Nord. This test detects the presence of defective genes causing four diseases: Congenital Lactic Acidosis, with 1 in 23 individuals being a carrier of the defective gene, Tyrosinemia Type 1 (1 in 19), Charlevoix-Saguenay Spastic Ataxia (1 in 22), and Sensory-Motor Neuropathy (1 in 23).
Recently, we identified ten additional diseases meeting similar criteria. Our project aims to develop an enhanced genetic test capable of detecting all 14 diseases just as easily while assessing its social acceptability. Our team believes that the addition of these diseases would enable future parents to understand their risk of passing on any of these 14 diseases to their children, enabling them to make informed decisions in their family planning.