Genetic Counseling in the progress of modern medicine

The National Society of Genetic Counselors of America (NSGC) defines genetic counseling as the “process of helping individuals understand and adapt to the medical, psychological and familial implications of genetic contribution to disease”.

During this process, the professional will seek to interpret in depth the most relevant genetic traits and convey the information in a simple and understandable way so that patients, without knowledge in this field, can understand their diagnosis and future options. Genetic counseling is carried out in several key steps:

• Information gathering: The process begins with a detailed collection of the patient’s medical and family history. Included in this process is the development of a family tree spanning at least three generations, which will be crucial for identifying inheritance patterns and assessing risk.

• Risk assessment: The genetic counselor assesses the risk of the patient or family members developing genetic conditions with the information collected. This step may involve identifying possible carriers of inherited diseases or assessing the risk of recurrence of the pathology in future pregnancies.

• Education: The genetic counselor explains to the patient any concepts related to genetics, heredity and medical implications. This includes discussing the genetic testing options available, their benefits, limitations and possible outcomes.

• Decision making: The patient with the support of the genetic counselor, makes informed decisions about genetic testing, management of the results and possible prevention or treatment options.

• Follow-up and support: After testing, the genetic counselor helps patients understand the results and develop a plan of action, in addition to providing emotional support and, if necessary, referral to a specialist.
One of the main differences between genetic counseling consultations with respect to consultations in other specialties is that they not only focus on the patient who comes to the consultation, but also take into account his or her family history and, in fact, in most cases, the information obtained in these consultations can have repercussions for other members of the family. When is it necessary to go for genetic counseling? Generally genetic counseling is usually requested for a clinical case in which a diagnosis is sought, however, each clinical situation is different. In general, the following situations may occur:

• Patient with symptoms: The consultation is accompanied by all the available medical reports of the patient so that the physician can evaluate the case and, together with the information gathered, can prescribe the most appropriate genetic test.

• Patient with diagnosis: The consultation serves to resolve doubts about the disease with respect to its heritability and prognosis, as well as to determine possible treatments.

• Healthy patient: This consultation allows the identification of possible risks based on genetic information and personal or family history of a person proactively seeking health care.

There are numerous reasons why a person may be interested in receiving a genetic counseling consultation.

What is studied in a genetic counseling consultation?

Each case is unique, the number of consultations, traits and risks that are explained in each genetic counseling consultation may vary depending on the case. Generally speaking, it is recommended that there be at least two genetic counseling consultations, one before and one after a genetic test is performed.

As mentioned above, the approach of this consultation may be aimed at a diagnostic or preventive setting. The aim of a diagnostic genetic counseling consultation is to help the person affected by a genetic disease and their relatives to understand what the genetic alteration implies, the disease to which it gives rise, whether there is a specific management for this disease, to identify whether there are risks of recurrence within the family and, in addition, to resolve any doubts that may arise for persons affected by the genetic pathology.

In the first genetic counseling consultation, the reason for the visit is determined and the clinical manifestations of the disease, its transmission pattern and the recommended diagnostic tests to identify the genetic cause are discussed. The most important thing is that at this consultation the patient understands what is to be tested and what results he or she may receive with the recommended genetic study. If the counselor determines that there is a specific test for the patient, the results will be provided in a subsequent consultation, in which the counselor will resolve any doubts that may arise. In the event of a positive result, genetic testing of family members may be recommended to identify the variant in at-risk relatives. In some complex cases, more than two consultations may be required to address both the guidelines prior to the diagnostic genetic test and the interpretation of the results and the most appropriate treatment approach.

On the other hand, the objective of a preventive genetic counseling consultation is to provide the patient with tools to prevent diseases and improve their health. In these cases, knowing or detecting a possible hereditary risk does not mean that the person has the disease, but indicates a risk of developing it, allowing to be proactive in its prevention through health care, such as proper eating habits and regular check-ups with specialists.

Genetic counseling is a crucial tool to guide patients in their health decisions and offer more complete and personalized care. By working closely with genetic counselors, physicians can ensure that their patients receive the support and information they need to navigate the landscape of medical genetics.

Veritas’ goal is to provide tools that enable patients to be informed consciously and correctly in order to improve their health. Our portfolio of services includes the advice of a professional to accompany the patient throughout the process.