PCTs fail patients by not funding genetic tests for familial hypercholesterolaemia

PCTs have 'failed' patients by not funding genetic testing for a potentially lethal inheri­ted cholesterol disorder, a GP specialist has said.

'Cascade' testing, using blood and genetic tests, is recommended (Photograph: SPL)
'Cascade' testing, using blood and genetic tests, is recommended (Photograph: SPL)

Dr David Milne, a cardiology GPSI, criticised PCTs in England for failing to fund familial hypercholesterolaemia (FH) testing, despite the high risk of premature death among these patients. FH affects one in 500 people, increasing the risk of CHD by 50% in men and 30% in women.

NICE recommends ‘cascade’ testing, using blood and genetic tests, to diagnose the condition in families with a history of cholesterol and premature heart disease. Despite this, less than a fifth of people with the disease in the UK have been formally diagnosed.

Dr Milne, co-chair of the charity Heart UK’s FH guide­line team, said: ‘There’s no money to fund NICE recommendations. PCTs have had four years to get their act together and they just haven’t done it.’

GPs have been ‘hamstrung’ by this resistance, despite being in an ‘ideal position’ to detect and treat the condition, he said.

‘GPs are aware of the patients in their practice who have a poor family history of previous heart disease and raised cholesterol,’ he said. ‘We need to test these patients’ families for genetic predisposition and then begin treatment earlier.’

Statin therapy
Last month, Heart UK urged the NHS to begin FH screening in England, although last year the UK National Screening Committee ruled out national screening. The charity estimates that statin therapy would save 69 lives for every 1,000 FH pat­ients treated. This could avoid 8,200 premature deaths among people with FH.

A report by the charity found that 60% of PCTs in England had no written plans for how to enact NICE’s FH guidance more than two years after it was published. More than a third do not fund lipid clinics or specialist centres for genetic cascade testing in their area.

Heart UK said that screening was progressing well in the other UK countries.

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