Recently, (Wednesday 1 February, 2016 - the start of the annual awareness campaign, Heart Month) the British Heart Foundation issued a statement suggesting "around 620,000 people in the UK are carrying a faulty gene that puts them at high risk of developing coronary heart disease or sudden death."
That's around 100,000 more than previous estimates!
But before we start to unpick these potentially frightening (and overwhelming) figures, it's important to consider how (and why) leading research charities choose to frame their messages. It's vital that the charity sector is transparent with the public, affected families and supporters. But this can be particularly challenging when it comes to research. Research findings can be complex messages to convey to the public, especially when talking about genetics.
Statistics and 'guesstimates' predicting the genetic risk of people dying suddenly from coronary heart disease OR sudden arrhythmic death syndrome (SADS) in young people are two very different things. Whilst the impact of any sudden death is utterly devastating, it is unusual for the risks to be grouped together in this way, as often the causes, circumstances, lifestyle factors and ages of those affected are just not the same.
Much of the recent media coverage has also focused on the statistic that every week in the UK, 12 young (that is aged 35 and under) "apparently" fit and healthy people will die suddenly from a cardiac condition.
This "12 a week" statistic was first published back in 2009 and has been used very effectively to highlight the scale of young sudden cardiac deaths. CRY believes this figure alone justifies that much more needs to be done to prevent these tragedies - and that includes the Government and National Screening Committee accepting the need for greater intervention to improve early identification.
CRY believes EVERY young person (not just elite athletes) should have the chance to have cardiac screening and currently 10s of thousands every year (around 23,000) are choosing to be tested for free via www.testmyheart.org
Of the 600+ young sudden cardiac deaths every year, some may have a genetic cause - but certainly not all will be inherited. But whatever the underlying cause, it is vital that young people are identified and treated before it is too late and another case of young sudden cardiac death rips apart yet another family and another community.
Most groups, including the Government, advocate a position where awareness is vital. CRY agrees that families need to know if they have a history of an inherited condition and young people need to be aware of the symptoms to look out for so they can seek help. There are red flags such as exercise related chest pain or passing out, many of the other symptoms like palpitations, dizziness and breathlessness but these can be quite arbitrary. Whilst this is the model of screening relied upon in the US, it results in significant numbers of 'false positives' and should not be a healthcare model we adopt here in the UK.
Essentially, the difference between this model and the CRY model of screening is an ECG (the non-invasive electrocardiogram) carried at the same time as reviewing the person's symptoms and their family history.
If there is a concern with the ECG, medical questionnaire and/or family history a further ultrasound (ECHO) to look at the structure of the heart is conducted straight away without the need for a GP referral. The tests are reviewed by an expert so only a small percentage of people will be referred back into the NHS with potentially serious abnormalities which need to be investigated further. It is true the initial cost may be more than a routine GP consultation, but the total costs to NHS are considerably less.
Notwithstanding the fact that the majority of young sudden cardiac deaths occur with no symptoms or family history.
The promise of a genetic test to prevent all young sudden deaths is of course a wonderful thought. It sounds so easy. However, as we have seen over the past 20 years, it is not just the public who have become more perplexed by the issues of genetics in this area and what it means to predicting risk of sudden death - it is also the experts.
Genetics has an important role but sadly the proposed "cascade of testing" usually begins after a tragedy. The young person has already died and the experts are trying to pull together as many missing pieces of a puzzle as possible. For the family and friends, it is too late....
What we are all in agreement with is the simple fact that 12 young deaths every week is unacceptable. These tragedies can largely be prevented through cardiac screening. The ECG test is one of the oldest in cardiology. It is available here and now and is saving lives - underpinned by an extensive programme of research to improve and refine the ways in which we interpret its findings. Why overcomplicate things?