The importance of genetic counseling

The concerns that arise when considering having children are very varied. One of the most common concerns is the offspring’s health and, many times, it is expresses as fear, uncertainty or lack of knowledge. In addition, the search for information can increase this concern and favor the conception of erroneous ideas. That is why a genetic test for carriers of mutations related to recessive diseases helps to understand the individual situation of each person. And accompaniment during this process by a good genetic counseling is recommended for a better interpretation and understanding of the results by the patient, and thus, a calmer and more appropriate decision making for each one of them.

Genetic counseling in carrier screening

Genetic counseling is a communicative process during which a professional explains medical information in a simple way to the patient and/or family members. In the case of carrier screening counseling, the person who wishes to become a mother or father is informed about the genetic analysis and its specific results. The goals pursued by this pre-test counseling are:

  • Identify the patient’s needs and listen empathetically to their concerns.
  • Collect information that may be useful to us to know their health situation, that is, if they suffer from a disease or know that they are carriers of it. If that this is the case, collect, if it exists, any documentation that certifies it. Also, to know his/her family history to take into account if there is any relative with any pathology of interest that may have been inherited, and to assess the most appropriate options for each specific case.
  • Inform the patient about the test so that he/she understands the analysis he/she is going to undergo and is aware of the benefits of the test and the limitations that it may have, including the possibility of accidental findings.

Once the results have been obtained (post-test counseling):

  • Transmitting the results in a simple way. Helping him/her to understand and interpret the information and to adapt to the medical, psychological and social implications of the results.
  • Providing education on the types of inheritance studied, residual risk, available reproductive options and prevention (if any).
  • Ensure that the patient understands what is meant the increased risk of having pathogenic variants in the genes tested and the risk reduction if the reproductive partner has not been identified as a carrier.
  • Encourage questions to resolve any doubts that may arise during the explanation so that, by understanding, the patient will have a greater sense of control and, consequently, decrease worry/anxiety.
  • Promote, from the useful information transmitted, decision making, adapting them to the individual situation and taking into account the values and beliefs of each one in order to act in accordance with the decision taken.

For all this, it is favorable that the explanations are developed in a warm and human atmosphere giving an empathetic and personalized approach using a clear and understandable vocabulary in which the patient feels part of their own reality.

These counseling conditions are of special interest when it is detected a high risk of affected offspring for any of the diseases analyzed in a couple, in which case genetic counseling is of special interest to encourage decision making according to their particular situation and to comment on the reproductive options available.

Sometimes patients are not only found to be carriers of pathogenic or probably pathogenic variants, but there are also variants that can have a direct effect on the health of the patients, and not only on their offspring, which is another advantage of the test. Thus, the patient should be informed of his or her situation and of the consequences of these results. This could be the case of variants in genes which have predisposition to cancer or lung problems. In these cases, being aware of this information will also serve to prevent or detect diseases in time. Thus, a good preventive oncological follow-up or behavioral changes such as smoking cessation can be recommended, depending on the situation. Therefore, being aware of this and knowing how to manage is of interest to many.

In summary, what counseling seeks is to explain the procedures and results of an analysis and help to understand them in order to be able to assimilate these results, reflect on them and make conscious decisions.

“Genetic counseling is based on the patient UNDERSTANDING, since, as the very meaning of the word says, to understand is to perceive and have a clear idea of what is being said, done or happened or to discover the meaning of something, in this case the test results and, therefore, their genetic situation.”