Information for patients

Most common reasons for consulting Clinical Genetics

The reasons for consultation in clinical genetics can be diverse, but some of the most common are:

• Family history of genetic diseases: patients may come to the consultation due to a family history of hereditary diseases, or because they have symptoms that suggest the presence of a genetic disease.

• Congenital defects: When a newborn has a congenital abnormality, such as malformations, growth retardation or developmental problems, a clinical genetics consultation may be requested to contribute to the clinical and genetic diagnosis.

• Diagnostic tests: Genetic tests can be used to diagnose genetic diseases or to identify carriers of a genetic mutation.

• Genetic counseling: In some cases, patients may come to the clinical genetics clinic for genetic counseling, particularly when they have a family history of hereditary diseases or if they are considering having children and want to know the risk of passing on a genetic variant.

• Reproductive history: If a couple has had trouble conceiving or has experienced repeated miscarriages or fetal losses, a geneticist can assess whether there is an underlying genetic cause and provide recommendations for future pregnancies.

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Common questions at the clinical genetics consultation

• What is a genetic disease and how is it inherited?

• What is my diagnosis and what does it mean?

• What genetic tests can be done and how are they done?

• What do genetic test results mean and how can they affect my health or that of my family?

• What is my risk of developing a genetic disease and what is the risk of my children inheriting the disease?

• Is there any treatment available for my genetic condition and what is the prognosis?

• How can I manage my genetic disease and what preventive measures can I take to reduce my risk of complications?

• What reproductive options are available to me and what is the risk that my child will inherit the genetic condition?

• What other specialists do we need?

• Can a person who does not have the condition pass it on to their children?

• How can we contact others in a similar condition?

• What support resources are available for me and my family, such as support groups or genetic counseling?

• What research is being done and where?

It is important to note that every clinical genetics consultation is unique and the questions may vary according to the individual needs and concerns of each patient.

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How does it work in a clinical genetics consultation?

Information gathering: The geneticist gathers detailed information about the patient's medical and family history, including any history of genetic diseases, congenital anomalies, developmental problems, reproductive history, and more.

• Physical examination: The geneticist may perform a physical examination of the patient, and sometimes of family members, to evaluate any signs or symptoms that may be related to a possible genetic disease.

• Risk assessment: Based on the information gathered, the geneticist can assess the risk of genetic diseases in the patient and his family.

• Genetic testing: If deemed appropriate, the geneticist may recommend genetic testing to help diagnose or identify risk for genetic diseases.

• Interpretation of results: The geneticist interprets the results of genetic tests and provides recommendations for treatment and follow-up.

• Counseling and recommendations: The geneticist can provide personalized counseling and recommendations about the management of the genetic disease, how to prevent it or reduce its impact, reproductive options and support resources.

• Follow-up: The geneticist can schedule follow-up appointments to assess the patient's progress and provide any other necessary advice or support.

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