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Genomics to Prevent Sudden Cardiac Death

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:

  1. 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.
  2. Efforts are already underway to develop workable clinical protocols for identifying FH probands and performing cascade screening of their family members.
  3. 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.