The past, present and future of molecular genetic diagnosis in familial hypercholesterolemia

Familial hypercholesterolemia (FH) is the most common single gene disorder of lipid metabolism. Identifying the genetic cause of FH affects the management of the patient and their family members. Traditional genetic testing methods have been limited by throughput and cost, and therefore the majority of patients have not received a molecular diagnosis. Genetic testing technology has made huge advances in recent years, and these advances are now being translated to improve clinical diagnostic testing for many genetic disorders including FH. This review describes these advances in genetic testing, and considers their implications for the diagnosis and treatment of FH.