Those who know us know that in Genotype, we are firm defenders of the usefulness of genetics in medicine and its importance for health. In this post, we explain why!

The connection between a person’s DNA and their health is immediate. DNA contains the instructions for the proper development and functioning of all of us. And the minor variations in each person’s genome (plus a specific environmental component) make it different from the others. Thus, knowing how DNA influences our characteristics and our health has become a tool with tremendous potential for medicine.

And if you are interested in this topic and want to go deeper into the different points, remember that you can find much more information in the University Program of Clinical Genetics.

Early Diagnosis

The best-known application of genetics in medicine is arguably the diagnosis of disease. The genetic causes of more than 3000 diseases are now known. This information, archived in databases, is a handy tool when confirming the clinical diagnosis based on the symptoms presented by a patient.

When a medical professional suspects that a patient has a specific genetic disease, it is possible to analyze the patient’s DNA to see if they carry a mutation in the gene responsible. The test confirms the clinical diagnosis if the patient has an expected gene mutation.

Genetic diagnosis of diseases can be performed in both adults and children. In addition, it also represents an essential part of prenatal diagnosis.

Disease Prevention

A rather radical strategy is to prevent two people carrying risk alleles for the same recessive disease from being a couple and having typical children. This approach may seem very extreme, but it is already used today. In the Ashkenazi Jewish community, recessive diseases occur more frequently than in other populations. Having one risk allele has no effect on these diseases, but having both copies dramatically increases the risk of having the disease. And if both couple members are carriers, there is a high chance of having a child with both copies altered. For this reason, before formalizing a commitment, interested parties perform compatibility tests to see if they are carriers and if there is a possibility of having an affected child or daughter.

Even researchers are developing dating applications that filter users and do not consider them as “match” those people carrying the same mutation as the user.

Applications of genetics in health: prevention. One way to prevent the onset of genetic diseases is to take into account the presence of certain mutations in both members of the reproductive couple. Image: Rubén Megía, Genotype.

Another way to prevent hereditary diseases is to do a preconception study. In this case, stakeholders undergo DNA analysis, and genetics professionals estimate whether there is a risk that their offspring will have a recessive disease. It is important to understand that not all possible mutations responsible for diseases are necessarily analyzed, but the most frequent or those known to be more serious are estimated.


If we stop to think, it is incredible how many uses of genetics or genomics in the treatment of diseases.

Here are a few:

Precision Medicine

Genetics is one of the pillars of what is now known as precision medicine or personalized medicine. This concept is about considering a person’s characteristics (including genetics) when managing or treating a disease. It can also be applied to prevention or diagnosis, but we highlight its impact on treatment here.

There are multiple levels or situations in which genetics can contribute to precision personalized medicine.

For example, a person’s genetic information can be useful to know if specific treatments will be effective or could become toxic. Genetic differences in some genes can influence how we metabolize drugs. For this reason, there has been a great effort to connect specific DNA changes with the response to certain drugs in recent years. Pharmacogenetics and pharmacogenetics study the relationship between the human genome and drugs.

Drug research

The usefulness of genetics in drug development has different levels.On the one hand, genetic studies often contribute to identifying molecular targets to target in drug design. For example, some studies look at which genes are expressed more or less in a tumor to see which molecular pathways are affected. This information allows them to determine which proteins are key to tumor progression and develop drugs that regulate them.

Moreover, cells or animal models are used to estimate the effectiveness of many compounds as therapeutic agents. And how is it determined if the compound has an effect? One of the strategies is to analyze the gene activity it induces. In addition, if genetic changes are introduced into cells or to create animal models, genetic constructions generated by genetic engineering are necessary.