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Genetic counseling: What is it?

How is it done, when is genetic testing indicated, and how to request it

A genetic counseling consultation is a service that provides information and support to individuals and/or families suffering or at risk of suffering a genetic disorder.

During the genetic counseling consultation, the geneticist meets the individual or family to discuss the genetic risks that they may face and to provide information about the genetic tests and options available for a better management of their case, if applicable.

In order to determine if a disease or condition has a genetic component, the geneticist needs to know the detailed family history, the individual’s medical background and, on occasion, data from additional tests to help the diagnosis.

An essential element of genetic counseling is also to provide answers to any questions and concerns that the patients may have. During genetic counseling, the patient will be able to freely ask and discuss any concerns related to their genetic status; all the necessary information will be provided for the patient to be able to decide on the most appropriate option. Nevertheless, personal decisions shall be respected, and total confidentiality of the content of the sessions is guaranteed.

The information collected during the genetic counseling consultation allows determining the need for genetic testing and identifying the most suitable test; however, the decision whether to perform the test depends on the person affected, who will have all the necessary information about the implications of the test results for themselves or for their offspring, as well as about the test’s advantages, risks, and possible alternatives. In case the decision to perform the genetic test is made, the physician must give the appropriate prescription.

Once the results of the genetic test are known, the physician will provide the patient with the necessary information about the diagnosis, the way in which the disease is inherited, the probability of transmitting the disease to offspring and future generations, and the available testing and treatment options.

In some families, the occurrence of diseases that could have a genetic component is observed. These cases usually raise concerns, particularly when the decision whether to have children is being considered. The main reasons to request a specialized genetic counseling consultation are the following:

  •  Your physician has noted symptoms that can be indicative of a genetic disease.
  •  There have been cases of inherited disease, hereditary cancer, congenital malformations, or chromosomal alterations in the family.
  •  You suffer from infertility, have had two or more miscarriages, or a stillbirth.
  •  You and your partner have some degree of kinship and are planning to have children together.
  •  You gave birth to a child with mental retardation, developmental alterations, or congenital malformation.
  •  You are over 35 and are pregnant or are planning to become pregnant.
  •  Ultrasounds or any other test performed during pregnancy shows abnormal findings that might be suggestive of possible genetic or chromosomal disorders.
  •  You belong to an ethnic group with a high incidence of certain genetic diseases.

If you are in any of these situations and you need a Genetic Counseling Consultation, please contact us through the contact form or call at +34 963 212 340.

The most important thing is to gather all information that may be helpful to the geneticist and to prepare a list of questions that you would like to ask during the visit.

The first visit usually involves collecting information about the patient’s medical background and family history. Before you first visit, consider:

  • Asking as many relatives as possible about their medical conditions and gathering information about past deaths of relatives (age and causes of death, etc.).
  • If related medical records are available, it could be helpful to collect them and either bring them to the visit or ask whether they should be submitted beforehand.
  • If you have been tested in relation to the issue that made you seek the geneticist’s advice, any available information about these tests could be useful.

Before your consultation, you could compile a list of questions and concerns that you would like to ask the geneticist, who will provide comprehensive and general information; by doing so, you will make sure to discuss the aspects that you consider the most relevant. Some examples of questions that could be asked are:

  • If I have this disease, what is the risk that my children or other relatives are affected?
  • If a relative has this disease, what is the possible risk for me or my children?
  • Are there any available genetic tests that can detect the disease?
  • What information does the test provide and what limitations does it have?
  • How does the test work and when will I know the results?
  • What are the benefits of knowing more about my potential genetic risks?
  • What should I do if the diagnosis is confirmed?

During the first visit, it is common to talk about the medical background of the family, based on the information provided by the patient, as well as about the patient’s symptoms and reasons to seek genetic consultation, with the aim of identifying a genetic disease or a potential risk of suffering a genetic disorder. If necessary, physical examination of the patient will be performed, and the geneticist will recommend the most suitable diagnostic tests for the patient, including, among others, blood testing, X-rays, echography, and genetic testing, in addition to consultations with other specialists; however, not all patients need additional testing as part of their assessment.

Usually during the second visit, the results of any tests performed to confirm the diagnosis are analyzed; based on this information, the patient receives advice on the steps to follow for the different possible treatment options, family planning, or possible risk for other relatives. An explanation about what the diagnosed disease entails will be given to the patient and/or family, and all available options and resources will be discussed. Throughout the whole process, the patient will be guided by the professional, but all decisions will be made by the patient based on the information provided.