Genetic counseling (advice) is the process of evaluation, diagnosis and follow-up of patients with genetic diseases. Through this process, patients come to understand the origin of their disease, the inheritance mechanisms, the possibility of transmission to offspring and the treatments and/or preventive measures suitable for your case. All genetic tests must be conducted alongside a genetic counseling process, performed by trained professionals at certified sites.
The process begins with the creation of a three-generation family tree, identifying possible diseases that run in the family and determining which confirmatory tests must be performed and on which family members. Lastly, the information exchanged with the patient is collected with an informed consent form. The objective of genetic counseling is to provide patients with adequate and sufficient information so that they understand the personal, family and procreative implications of genetic analysis, allowing them to come to an informed decision about their health and the health of their offspring.
According to Spanish and international recommendations, genetic counseling must be a comprehensive part of the process of analysing hereditary diseases.
Nowadays, carrier screening tests are available to couples who want to rule out recessive diseases. In the pre-conception genetic counseling consultation, the geneticist explains the purpose of the test, its characteristics and the possible outcomes. This consultation may deal with specific cases, such as consanguinity, exposure to toxic substances and/or radiation, diseases with adverse effects on pregnancy, treatments with teratogenic effects, etc. It is also the appropriate time to recommend pre-conception measures to reduce the risk of congenital malformations, such as immunisations, folic acid intake, iodine intake, etc.
In the prenatal consultation, the patient receives information about the different prenatal, screening or diagnosis studies, types of sample, risks of each invasive procedure and conditions detected in each type of analysis. Once results are obtained, their meaning is explained, as well as any implications for the foetus and the rest of the family, if there is an indication to perform additional tests, limitations of the technology and pre- and post-natal options. In case the aforementioned consultations were not performed, patients may attend reproductive counseling in the event of a spontaneous or induced interruption of the pregnancy caused by ultrasound abnormalities and/or the identification of any genetic alteration. In this case, the post-abortion consultation covers all the aforementioned sections, specifically taking into account the findings of the anatomopathological study of the foetus.
Hereditary diseases consultation
In the pre-test consultation, the patient is informed about the type of study to be performed, the type of sample to be used, the possible expected outcomes, the likelihood of the test being positive and the implications of a positive or a negative result.
The post-test consultation offers information about the interpretation of the test, personal, family and reproductive implications, follow-up protocols, treatment, preventive measures, patient associations, etc.
Multifactorial diseases consultation
This deals with pre-symptomatic diagnoses that assess the possibility of developing a certain disease based on genetic risk factors. In this context, it is crucial to assess the risk/benefit ratio, as well as preventive options and ways to minimise the impact of genetic risk.
Family cancer consultation
In these consultations, an oncological history is created involving at least three generations, evaluating the type of disease and the age of onset. Once the possible cancer predisposition syndrome is identified, a study of an adequate proband and/or a family tumour sample is performed.