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Heart charity launches £1m genetic testing scheme for familial hypercholesterolaemia

The British Heart Foundation has launched a £1 million programme of funding to support the roll-out of more systematic genetic testing for familial hypercholesterolaemia.

The programme will pay for specialist nurses to offer cascade testing services at eight NHS trusts across England and Scotland, following a successful pilot in Wales.

Cascade testing involves an initial genetic test on anyone with a clinical diagnosis to confirm they have familial hypercholesterolaemia, followed by testing their immediate family members for raised cholesterol levels.

According to the charity, just 97 patients were known to have familial hypercholesterolaemia in Wales before the pilot got underway, but now 1,183 patients have been identified who are likely to have the condition, with 492 having the diagnosis confirmed by genetic testing. It hopes expanding services elsewhere will help to identify the estimated one in 200 families with familial hypercholesterolaemia in the UK.

NICE has recommended cascade testing since 2008, but GPs have found it difficult to refer people because of poor access to the services.

Professor Peter Weissberg, Medical Director at the BHF, said: ‘With the help of our supporters, we’ve proven that cascade testing for familial hypercholesterolaemia works. What we need now is a nationwide, systematic process which will make sure any family in the UK at risk can be tested and help them fight back against familial hypercholesterolaemia.’

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