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Boost for familial hypercholesterolaemia (FH) cascade testing

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The British Heart Foundation (BHF) has agreed to make around £1.5 million funding available to fund the appointment of specialist nurses or genetic counsellors to support the introduction of cascade testing for familial hypercholesterolaemia (FH) in the UK.
The importance and urgency of cascade testing for family members of patients with FH who may also be affected has been strongly underlined recently, with the release of new NICE quality standards (see previous news). Genetic testing can identify new FH patients who may benefit from immediate medical management to prevent or slow the development of cardiovascular disease (for more detail on the advantages of genetic testing for FH, see previous commentary).
Whilst cascade screening programmes have been implemented in Wales, Northern Ireland and Scotland, there is no national programme in England, which has by far the greatest population (and hence also the greatest number of undetected FH cases). Now service providers in England, Northern Ireland and Scotland may apply for the BHF funding for nurses or genetic counsellors by 1st November 2013.
National Clinical Director for Heart Disease Professor Huon Gray says that NHS England considers that ‘improving FH detection and management is a worthwhile, cost and clinically effective objective’, underlining the financial benefits of reductions in avoidable cardiovascular disease, and encourages service providers and Clinical Commissioning Groups (CCGs) to apply for the BHF funding.

Comment: This is a useful and welcome step towards expanding cascade testing for FH in England, and should to some extent support the establishment or expansion of specialist care (though apparently not solely in England). However, it does not directly address the fundamental lack of NHS funding or structure for a national FH service, nor current barriers to specialist care, such as funding for FH genetic testing ordered by clinical experts. Perhaps BHF hopes the funding will have a ‘pump-priming’ effect, adding impetus and helping to convince service commissioner and providers of the financial benefits of spending on FH prevention. 

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