I wrote recently that my wife had had her cholesterol measured for the first time in too long, and we were somewhat surprised to find that it was on the high side, despite a healthy diet and exercise. I think often when people get medical test results back, particularly in middle age (my wife is 46), there is a tendency for any consequences of that test to feel less relevant, even more so for heart issues which have such a long lead time that even with bad results it will often take many years before anything serious happens. It’s likely one of the reasons people put off all the lifestyle changes that they know will help in the future. It feels like there is always plenty of time.
Tragically this week, things were brought into sharp focus in our house when my wife’s father died suddenly out of the blue. A post mortem showed the cause of death to be a heart attack. If you could choose how to go, dying in your sleep of a heart attack would be right up there, but in a person with seemingly no symptoms beforehand, it’s a reminder how precious life is and how quickly it can be taken away. It has also really made my wife sit up and think more critically at her own blood results and heart health. Given that neither of them have any particular risk factors, it makes one think much more about the impact of genetics.
As a doctor I deal with heart disease every day, and yet when something like this happens in your own family, it lands very differently. You find yourself replaying conversations, looking for clues that weren’t there, trying to balance rational medical thinking with the emotional reality that this time it wasn’t a patient — it was a family member.
What has struck both of us this week is how deceptively silent heart disease can be. We instinctively imagine warning signs, chest pain, breathlessness, a slow decline. But the truth is that coronary disease can sit quietly for years, even decades, before it announces itself — sometimes in the most dramatic and tragic way.
Most people have at least a rough sense of their lifestyle-related risk: diet, exercise, weight, smoking status. My wife has always scored well on those fronts. She eats better than I do, she isn’t overweight, she’s active. And yet here we are, with her cholesterol unexpectedly raised and now this sudden loss in the family.
It forces a different kind of question:
what if the biggest risk factor isn’t something you’re doing, but something you’ve inherited?
We tend to think of genetics only when there’s a dramatic diagnosis — a cystic fibrosis gene, a BRCA mutation, familial hypercholesterolaemia. But for most conditions, including heart disease, it’s not one gene that matters. It’s many, each nudging the risk up or down by a small amount. Individually they’re insignificant; collectively they can shape someone’s entire trajectory.
This is something cardiology as a specialty has been grappling with over the last decade. We’ve learned that two 46-year-olds with identical cholesterol and identical lifestyles can have completely different underlying risks simply because of the genetic deck they’ve been dealt. One might go through life without ever seeing a cardiologist. The other might be quietly building up plaque from their twenties, completely unaware.
That’s why this week has been such a jolt. It’s one thing to talk about risk in the abstract; it’s another to see how it might play out in your own family.
Over the last few days, my wife has gone from feeling mildly annoyed about her cholesterol results to genuinely wanting to understand her risk profile in a more meaningful way. And I suspect many people in their forties and fifties are in a similar position without realising it: generally healthy, mildly abnormal bloods, and a family history that no one pays much attention to because “he was in his sixties” or “she never had symptoms”. And for those already in their 60s or 70s or older, this isn’t just a conversation for “younger people.” Knowing your inherited risk can still shape treatment decisions, highlight the need for more aggressive prevention, and in some cases help avoid the very events that so often catch people off guard at that age.
But when you join the dots, patterns start to emerge.
And once you start seeing the pattern, you naturally ask the next question:
Is there a way of measuring what part of this risk is genetic?
And if so, what would we actually do with that information?
It turns out there is a way — and it’s far more advanced and far more useful than most people realise. Over the last few years, cardiology has gained access to tools that can quantify inherited risk by looking not at one gene, but at hundreds of thousands of genetic variations all at once. They don’t diagnose disease; they reveal predisposition. They identify the people who may need to take prevention far more seriously long before symptoms appear.
I’m going to write more about this next week — how these tests work, where the science has come from, and why they’re starting to revolutionise how we think about heart disease in people who otherwise “look” low risk on paper.
For us, this has now become personal.
And I think it’s a conversation many families should be having long before a tragedy forces them to.