Abstract

Cascade testing for Familial Hypercholesterolaemia (FH) was recommended in the 2008 NICE guidelines. The FH testing programme in Wales was launched last year and we are conducting a sociological study with FH patients and GPs. We are interviewing 30 patients across Wales to explore their experience of living with FH, their experience of diagnosis, their understanding of the genetic or familial nature of FH and their views on cascade testing through family tracing. We are also interviewing 30 GPs across Wales to ascertain their knowledge of FH itself, its genetic or familial nature, and their awareness of cascade testing. We are also exploring attitudes among both groups to the change in treatment age to 10 years.

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