Lessening the Burden of Familial Hypercholesterolemia Using Health Information Technology

Despite advances in our understanding of heritable lipid disordersand the availability of highly effective lipid-lowering drugs, the awareness, detection, and control of familial hypercholesterolemia(FH) remain suboptimal. 1 A major reason for the low detection rate in the United States is the lack of a widely accepted screening strategy, despite the recommendations for universal or targeted lipid screening by several expert panels. Although the use of universal lipid screening remains a matter of debate, cascade screening (a form of targeted screening of family members of affected individuals) is acknowledged as the most cost-effective screening strategy for FH. In the Netherlands >26  000 new cases were identified over 2 decades by genotyping family members of FH probands, and it is estimated that genetic cascade screening, coupled with statin therapy for diagnosed patients, could save $92 million per year in the European Union. 1 Several factors lead to the low rates of cascade screening for FH in the United States. First, no nationwide strategy for the early detection of FH exists. Second, the low acceptance of genetic testing for FH in the United States is an impediment to unambiguous diagnosis and cascade screening. Third, patients and family members are often concerned about the stigma associated with genetic diagnoses. Fourth, because of the Health Insurance Portabilityand Accountability Act, disclosing the risk of genetic disease to family members can incur liability, even if this knowledge leads to early detection and treatment. Fifth, …