Familial hypercholesterolaemia (FH) genetic testing in the United Kingdom (UK)

Aim: UK guidance recommends DNA testing to diagnose FH patients and for cascade testing (CT). There are service variations across the UK due to differences in local health commissioning. Following a successful British Heart Foundation (BHF) funded pilot in Wales, they invested >£1.5 million in an FH genetic testing programme, funding 27 FH nurses across 12 sites in England and Scotland. A computer system (PASS-clinical) is used to register patients and coordinate CT. Here we report on the diagnosis of monogenic FH and compare different methods of CT.