One of the main objectives of medical research and the scientific community is to know the genetic behavior of diseases. This has given rise to the birth of “preventive medicine“, which allows us, by knowing the genetic information of an individual, to be able to prevent the development of a disease in advance. However, did you know that your risk of developing a disease may not only depend on your genetic information?
Different studies have shown that most diseases are not only determined by a genetic factor but that the environmental factor also has a great impact on their development. This environmental factor includes different aspects such as sports activities, diet, sleep, environmental conditions, etc.
Some of the well-known diseases such as Alzheimer’s, Parkinson’s, Diabetes, or various types of cancer, are part of this group of diseases, called “complex diseases“. This name comes from the complexity involved in understanding these types of diseases as more factors than just genetics regulate them.
The genetic factor of a disease is determined by the presence of various changes in the DNA sequence throughout the genome. These changes are called genetic variants.
The power of Big Data applied to genetics
More and more resources are being devoted to studies that allow us to understand genetic variants and their relationship with complex diseases. In recent years, powerful new computational technologies have been developed, mainly focused on the analysis of large databases, known as “Big Data” genetic studies. These advances have considerably increased the knowledge of the effect of genetics on complex diseases.
Knowing the relationship between genetics and its effect on the development of complex diseases is key to being able to estimate the risk of suffering from them. The relationship between genetics and disease is analyzed on the basis of genome-wide association studies ( GWAS ).
The steps followed in these studies are as follows:
1. The DNA of people suffering from a disease is studied.
The DNA of people who do not have the disease is studied as a control group.
3. A comparison is made of the variations present or absent in both groups.
Those variants that are present in greater frequency in the group of diseased persons are considered to be risk variants. On the other hand, those more frequent in the control group are considered to be protective variants. Therefore, by knowing the presence or absence of these variants in a person’s DNA, the genetic risk of developing a certain complex disease can be predicted.
Is it possible to contradict what our genetics says?
Although there are more and more scientific projects focused on predictive genetics, that is, studying complex diseases with the help of powerful computational tools, we still do not know all the information that regulates this type of disease. This is why we are still far from being able to provide complete information about them. However, we can know our predisposition or genetic risk to develop a disease and adapt our lifestyle to reduce it.
For example:
A user’s genetic report indicates a high risk of lung cancer. In addition, this person has a sedentary lifestyle, follows an unhealthy diet, consumes a lot of ultra-processed food, alcohol, and smokes. Such a person, given that his genetics show a high risk and his lifestyle is not the right one, will have a higher probability of developing the disease.
On the other hand, a person who knows his genetic risk thanks to the DNA test report, if he applies changes in his life, acquires healthy habits, and avoids those behaviors that increase the risk, will have a lower probability of suffering the disease.
To summarize, a genetic test informs you about the risk of developing a disease according to our genetic information. With this information, we can modify our habits and lifestyle, reducing the risk of suffering from the disease.
And it not only helps us with this. Because many diseases present similar symptoms in their initial phase, knowing an individual’s risk of suffering a certain disease makes this disease the first to be considered. In other words, the speed and reliability of diagnosis are significantly increased.
