This project will examine the role of familial hypercholesterolemia (FH), a known cause of sudden cardiac death (SCD) within the Estonian population. This represents an ideal, focused pilot study for demonstrating the value of genetic-based prevention of disease for three reasons:
- FH is one of the most common monogenic disorders, and it confers a 20-fold increased risk for coronary artery disease – success would have a significant impact on human health.
- Efforts are already underway to develop workable clinical protocols for identifying FH probands and performing cascade screening of their family members.
- Estonia, in particular, has an established national biobank and a single, national electronic health record (EHR) system, enabling population-level programs aimed at translating genomics into clinical medicine.