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Why is Genetics so Important?

July 2, 2025 0Comments

It is important to understand the relevance of genetics as a scientifically based starting point for calculating the genetic load, which shows us the level of probability of developing a disease due to our composition.

Humans have cells with 46 chromosomes. These consist of 2 chromosomes that determine their sex (X and Y chromosomes) and 22 pairs of these non-sexual ones (autosomal). Men have “46,XY” and women “46,XX”. Chromosomes are made up of strands of genetic information called DNA, which contain sections of DNA called genes. These carry the information needed for your body to produce certain proteins.

Each pair of autosomal chromosomes contains one chromosome from the mother and one from the father, meaning each pair has the same number of genes.

Genetic tests can be very useful in determining whether a person has a genetic disease or is likely to develop one in the future. In a genetic test, a person’s tissue or blood is analyzed to determine if there is any modification in their genetic map. The information obtained in this type of test can be used to diagnose a genetic disease, start treatment, or take preventive measures.

• To confirm or rule out a diagnosis in a person who has symptoms of a genetic disease.

• For people with a family history or children with a genetic disease.

• To detect possible genetic diseases in newborns in order to start treatment as soon as possible.

A sample of a person’s blood, skin, hair, or other tissue is analyzed to study their DNA, chromosomes, or proteins and detect whether there is any modification or mutation associated with a genetic disease. Mutations can affect the entire gene or part of it and can cause abnormal functioning that triggers a disease.

Newborn screening is the most common genetic test. Most newborns should be screened for genetic diseases. Thanks to the early detection of these diseases, interventions can be carried out to prevent the appearance of symptoms or minimize the severity of the disease.

PRECONCEPTION carrier screening can help couples find out if they are carriers (and, if so, if there is a risk of transmission to their children) of an allele of a recessive disease such as cystic fibrosis, sickle cell anemia, or Tay-Sachs disease. By performing the test on both parents, it can be determined whether the couple is likely to have a child with a genetic disease.

Prenatal diagnostic tests are used to detect modifications in the genes or chromosomes of a fetus. This type of test is recommended for couples who are at increased risk of having a baby with a genetic or chromosomal disorder. To perform the test, a tissue sample can be obtained through amniocentesis or chorionic villus sampling.

To determine if you or a member of your family should undergo genetic testing, you should consider several aspects, both from a medical and emotional perspective. The result of a genetic test can provide a diagnosis and help obtain information on the management of symptoms, treatment, or lifestyle changes. However, genetic tests have their limitations. When a genetic test detects a mutation, it is not always possible to determine when or which symptoms of the disease might appear, which will occur first, the severity of the disease, or how it will evolve over time. Even if the test result is negative, the person may be at risk for a disease. Given the complexity of the medical and emotional aspects of genetic testing, it is important that the patient consult with a medical professional, such as a genetic counselor, to understand the risks and benefits of this type of testing and to obtain answers to questions they may have before and after the test.

If you require more information on this topic, contact our genetics experts Colgenes at +57 313 6096603, at our locations:

  • Medellín: Tel. +57(4) 268 80 00
  • Bogotá: Tel. +57(1) 746 98 69
  • Pereira: Tel. +57(6) 340 17 09
  • Cartagena: Tel.+57(5) 693 0434
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