The genetic revolution

Risposta: Our DNA contains valuable information about biological characteristics that may influence the onset and prognosis of diseases. Genetics is profoundly broadening the horizons of cardiology. In cardiomyopathies (diseases of the heart muscle), for example, genetics is now an integral part of the diagnostic process. Genetic information can be combined with age, family history, electrocardiogram, imaging and other clinical parameters to improve risk stratification. Patients with apparently similar hearts may have biologically very different conditions depending on the genetic mutation identified. Understanding the genetic basis therefore allows us to move beyond a classification based solely on the morphology and function of the heart and arrive at a more precise definition of the condition. In cardiomyopathies, for example, knowing whether specific genetic alterations are present can help identify individuals at higher risk, plan more thorough monitoring and, in some cases, prevent serious events. Genetics not only supports the guidance of treatment decisions but also plays a second fundamental role: family screening. Identifying family members who appear healthy but are carriers predisposed to developing the condition makes it possible to distinguish between those who require long-term cardiological monitoring and those who can be excluded from repeated check-ups. In carriers who do not yet have overt heart disease, genetics shifts the focus towards truly preventive medicine, aimed at recognising the earliest signs of disease and, in the long term, intervening before structural damage develops.

Genetics also plays a role in the development of atherosclerotic coronary artery disease, the condition that leads to a heart attack. Of course, there are the traditional risk factors: high blood pressure, high cholesterol, smoking, a sedentary lifestyle, an unhealthy diet and diabetes. These factors remain fundamental, but we now know that genetics can also play an important role. Indeed, some people may develop cardiovascular disease despite an apparently healthy lifestyle, whilst others seem to be better protected even though they have certain risk factors. Genetics helps to explain some of these differences. In fact, thousands of small genetic variants can be combined into what are known as polygenic risk scores, which can identify individuals with a particularly high hereditary predisposition to coronary heart disease. This does not mean that a person’s cardiovascular fate is already written in their genes, but rather that their genetic makeup can help us better understand their individual level of risk. These tools are still the subject of research and must be used alongside traditional clinical assessment, but in the future they could help to tailor the age at which screening begins and the intensity of preventive measures.

Genetic data only become meaningful when interpreted within their clinical, familial and biological context, using specialist expertise. In this sense, practising precision cardiovascular medicine means not only accurately characterising patients from a clinical perspective, but also drawing on biostatistics, bioinformatics and artificial intelligence techniques.

Finally, we come to the most fascinating frontier: can we use genetic information to choose – or even develop – a treatment? Drugs that target specific molecular mechanisms are gradually turning this possibility into reality. The real revolution, therefore, does not simply lie in ‘reading’ DNA, but in integrating genetics, phenotype and environment to move from a form of cardiology that treats disease once it has emerged to one capable of anticipating it, diagnosing it at an early stage, stratifying the risk and, increasingly, preventing it in a personalised way.