Targeted genetic testing for inherited condition is life saving and cost effective

7 April 2017        

Category: Research

Blood in test tube

Our research found that over a 30-year period 1,668 cases of heart attack, stroke and angina, as well as 276 deaths could be avoided, for every 12,000 first degree relatives tested for the condition Familial Hypercholesterolaemia (FH).

What is FH?

FH affects approximately 250,000 people in the UK but only about 18,000 of these people are diagnosed. It causes abnormally high levels of cholesterol in a person’s blood from birth, meaning that otherwise healthy individuals are at a much greater risk of having a heart attack at a young age.

The risk of death from a heart attack at age 20-39 is increased 80-84-fold in FH patients.

What is being done?

Despite NICE recommendations in 2008 to introduce ‘cascade’ testing for immediate family members of those affected by the condition, no systematic UK-wide programme exists today.

Our research

The 'cascade' model of testing and treatment was found to be far more cost effective than the current NICE threshold which is used to determine which treatments are likely to be recommended for use in the NHS.

The total lifetime cost of diagnosing and treating someone with FH was estimated to be £2,781 per relative tested, with more than 80% of these costs incurred within the first year. This cost would fall significantly if more relatives were tested.

If 3.2 relatives were tested for each of the 18,000 people currently diagnosed with Familial Hypercholesterolaemia (FH), over the next 30 years we could save approximately 1,325 lives as well as avoiding over 8,000 cases of heart attack, stroke and angina.

A post-code lottery of care

Professor Steve Humphries, who, over a 30 year BHF funded research career, has made many discoveries about the genetic causes of FH in patients in the UK, said: "Having a post-code lottery situation for a condition as common and life-threatening as FH is deeply concerning.

“Since NICE recommended cascade testing back in 2008, the landscape has drastically changed. We now know that FH is twice as common as previously thought and the cost of genetic testing has significantly reduced.

“This analysis shows that the case for a UK-wide service is stronger than ever and we hope commissioners will see the threefold benefits of this testing when making tough decisions on services.”

Professor Sir Nilesh Samani, Medical Director for the BHF said: “Although testing has been recommended in the NHS for some time, its application is patchy and the evidence presented in this paper hopefully provides a stimulus for us to do better. The research does not only have implications for the NHS but for health systems internationally.”

A life saving service

Since 2010 the BHF has invested over £2 million towards its ground-breaking genetic testing programme for FH which has already helped to identify over 2,000 people with the condition. This includes the funding of 27 FH nurses across 12 sites in England and Scotland and a pilot project in Wales which has since been sustained by the All Wales Genetics service.