Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world?

This editorial refers to ‘Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia’†, by H. Tada et al., on page 1573. Familial hypercholesterolaemia (FH) with elevated LDL cholesterol is a dominantly inherited genetic disease (or disorder) that affects 50% of first-degree relatives in FH families. FH is the genetic disease that kills most individuals in the world, and a genetic disease requires a genetic diagnosis. Brown and Goldstein received the Nobel Prize in 1985 for showing the cause of FH, including how FH can be diagnosed genetically. It therefore seems a mystery why genetic testing for FH is not used universally, and only rarely in the USA where Brown and Goldstein still work. Many European countries use genetic testing for FH, because it makes sense. Less affluent countries do not use it, because of the expense, while some rich countries including Japan and the USA do not use genetic testing for FH, because it is not yet considered ‘standard of care’.