What Is Genomic Medicine?

Knowing the genetic profile of each person is essential to prevent the risks of suffering certain pathologies and to be able to adapt the treatment to their specific needs.

Every cell in the human body has 23 pairs of chromosomes, and each cell contains our complete genetic code. DNA contains the instructions that the organism uses to develop and function and is responsible for hereditary transmission. It is made up of four nucleotides (adenine, thymine, cytosine and guanine) and the consonants that form its abbreviation (ATCG) are known as the letters of life, because their combination determines our physical and emotional state, how we will age or our propensity to suffer certain diseases. As Vicente Mera, head of the Genomic Medicine and Healthy Ageing Unit at SHA Wellness Clinic, comments, ‘genetics is a book written by both parents, each contributing half, which contains their information, from hair colour to how the organism produces proteins. But this book, over generations, can wear out and some of this information can be lost’.

In essence, all human beings are very similar, but we have slight genetic variations that make us unique. ‘There are two types of genetic variations. First, there are mutations, which are very serious alterations and are often incompatible with life. However, they are also very rare because, if they were frequent, the species would disappear. An example of a mutation would be when the genetic code does not contain the instructions for the body to develop an organ. Polymorphisms, on the other hand, are small variations in the genetic material and are responsible for the fact that we are all completely different. They determine the colour of our eyes or the size and shape of our nose, but also how our body functions. Thus, some people metabolise alcohol better than others and this depends on a polymorphism in a particular enzyme, which makes it more or less active. Or, when two people do the same activity, one may end up with a sore back and the other may not. This is due to polymorphisms in the collagen that protects and gives elasticity to the spine. In short, genomics is a huge group of small differences that make each of us what we are and what we are like,’ explains Vicente.

With genomic analysis we are able to detect polymorphisms related to the risk of illness, mood or predisposition to addictions. In this way, it is possible to anticipate and prevent future pathologies. As Dr. Mera says, ‘genomic medicine allows us to individualise the risks of illness and provide specific solutions for each person. This is why it is known as the discipline of the three ‘P’s’: it is predictive, personalised and preventive. To find out someone’s genetic code, a simple blood test is enough to study the lymphocytes, which are a type of white blood cell, and so we can adapt our lifestyle to the information contained in our genes. A few years ago, this process took a long time, but thanks to recent advances in computer technology, we can now have the results in a single day. Knowing a person’s genetic profile also allows us to personalise guidelines in terms of both nutrition and physical exercise. For example, there is a small part of the population for whom a healthy food such as broccoli is unpalatable and causes gas. With a genomic test we can detect this polymorphism and eliminate it from the diet. We can also recommend the kind of sports practice that best suits the type of muscle fibres.

If you want to know more about the genetic tests that we carry out at SHA, Click here