Screening for familial hypercholesterolaemia to begin in Wales

9 December 2008

Plans to roll out cascade screening for familial hypercholesterolaemia (FH) in Wales have been announced (see BBC news). FH is a common genetic disorder, inherited in an autosomal dominant manner and with an estimated frequency of around 1 in 500 of the UK population (more than 100,000 people).The vast majority of these individuals are currently undiagnosed. The screening programme will test family members of individuals diagnosed as having FH. Early identification of the condition, characterized by significantly raised cholesterol levels, allows preventative interventions - such as diet and lifestyle modifications, and the use of drugs such as statins  - to reduce the risk of premature coronary artery disease.

Minister for Health and Social Services Edwina Hart has reportedly made a commitment that the Welsh Assembly Government would work with the BHF to help fund the setting up and long term costs of a FH service in Wales. This move follows recent guidance issued by the UK National Institute for Health and Clinical Excellence (NICE) which recommended that cascade screening should be systematically implemented in the families of people diagnosed with FH throughout the UK (see previous news).

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