Planning the arrival of a new family member is one of the most exciting stages, but it also raises logical doubts regarding their future health. Understanding, from a genetic point of view, the difference between being a carrier and being affected is vital for making informed decisions before conception.
What is a genetic carrier?
A carrier is a person who possesses a genetic variant (mutation) associated with a disease but does not present symptoms. Carrier status is generally associated with diseases of autosomal recessive inheritance. Based on the fact that we all have two copies of each of our genes (one inherited from the father and the other from the mother), in these diseases, being a carrier implies that one copy of your gene may not function correctly, but the other compensates for the one carrying the mutation. For this reason, you are healthy, but you can pass that variant on to your offspring.
The invisible risk: When both parents are carriers
The scenario we can analyse in genetic tests is when both parents are carriers of the same pathology.
A real and very common example is cystic fibrosis, which has autosomal recessive inheritance. If both you and your partner are carriers, even if you are perfectly healthy, there is a genetic probability in each pregnancy that the baby will inherit both mutated copies. In this case:
-
25% probability that the child will inherit both mutated copies and may suffer from the disease.
-
50% probability that the child will be a healthy carrier (like the parents).
-
25% probability that the child will be neither a carrier nor affected.
What do genetic screening tests analyse?
Many users wonder what genetic analysis tests study. At tellmeGen, our test includes information on a multitude of monogenic diseases, those caused by alterations in a single gene. In addition to cystic fibrosis, we detect the predisposition to transmit other conditions such as haemochromatosis or sickle cell anaemia, among many others.
Taking a DNA test before pregnancy allows you to know this information in time. If it is detected that you are both carriers of the same genetic disease, you can consult a professional regarding the available options, such as prenatal diagnosis or preimplantation genetic diagnosis.
Thanks to options such as the pre-pregnancy genetic test that you can take at home, you can obtain precise results from the comfort of your own home. However, it is not enough to look at individual results. The key lies in the genetic compatibility test. This analysis cross-references information from both partners to identify if they share mutations in the same genes. It is, in essence, the definitive tool of preventative medicine for your family's future.
