Inequities may widen for inherited cardiovascular disease

By Philippa Brice

29 May 2014


Cascade testing for familial hypercholesterolaemia (FH) in the NHS has received a new financial boost.

FH is arguable the most common of classical genetic conditions, affecting as many as one person in every 200 in the UK; however, the majority remain undiagnosed. It results from mutations in genes that disrupt normal handling of cholesterol, leading to a build-up of cholesterol in blood vessels and premature cardiovascular disease. Untreated, it can shorten life expectancy by 20-30 years or even more; sudden deaths in apparently healthy teenagers and young adults can occur due to undiagnosed FH.

What is the value of cascade testing?

Genetic testing for FH allows accurate diagnosis; even in children, in whom the symptoms (notably substantially raised cholesterol levels) may not yet be apparent. Combined with cascade testing (checking of relatives of patients diagnosed with FH to see which carry the same inherited mutation that causes the condition), it can allow prompt identification of those at sharply increased risk of cardiovascular disease and preventative treatment. Cascade testing for FH is in many ways the epitome of genomic, personalised disease prevention in practice, and it is very cost-effective too as healthy lifestyle changes combined with treatment with statins is much less expensive

New funding to support cascade testing

The British Heart Foundation (BHF), as part of their current campaign on inherited cardiac conditions, has announced the distribution of more than £1 million funding to expand cascade testing for the conditions. This was originally announced in 2013, but the eight NHS Trusts that will receive the additional funding for specialist nurses in FH to support cascade testing have now been revealed: two in London plus centres in Yorkshire, Manchester, Bristol, Sunderland, Southampton and Scotland.

This is good news for the relatives of FH patients in and around the centres from which cascade testing programmes can now be run, but of course does nothing for the majority of others at risk in England, as (unlike Scotland) there is no national cascade screening programme for FH. This means that many areas, such as the East of England, are still left without.

The case for a national approach

The charity Heart UK has reportedly already urged NHS England to launch a national FH testing service. FH experts have been urging such a development for many years; in 2008 NICE recommended cascade testing, and national systems have been implemented in not only Scotland but also Wales and Northern Ireland. Why then does England still lack the funding for a national service for diagnostic and cascade genetic testing for FH?

It is true that financial pressures on the NHS have never been greater – but this is precisely the time NHS England should be thinking ahead, and recalling the maxim prevention is better than cure. A relatively modest financial outlay now could prevent much greater costs to the NHS being incurred for the future heart attacks and strokes that will inevitably result – and this is without taking into account the personal, social and economic losses that arise from unnecessary premature ill-health and death.

The BHF’s funding will at least improve the situation in parts of the country, and perhaps NHS England will be moved to address the others. However, a piecemeal approach is never going to be as effective as a coordinated national programme in ensuring that FH patients and their relatives receive proper care wherever they live in the UK – until this is put in place, the health inequities will persist, and health cost savings continue to go unrealised. That’s not a promising situation for what it supposed to be the era of genomic medicine.

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