Genetic Counseling
Definition
A service that provides information to people who have, or are at risk of carrying, an inherited condition, and to their relatives, about the course of the disease, treatment options, recurrence risks, and available options. It is a health service aimed at determining genetic risks, confirming a diagnosis, or ruling out a genetic condition.
Sessions can take place at a doctor's office, a hospital, or a genetics center; they can also be carried out remotely via telehealth.
The core principle is that counseling is non-directive. All information is presented in an understandable way; the decision belongs to the person being counseled. The genetic counselor's role is to convey complex medical information and to help the person make their own informed decision.
Purpose
Genetic counseling is sought in the following situations:
- A family or personal history of a genetic condition, birth defect, chromosome disorder, or hereditary cancer
- Two or more miscarriages, a stillbirth, or infant loss
- Pregnancy or pregnancy planning at age 35 and older, chromosome disorders are more common with advanced maternal age
- A child with a known inherited condition, birth defect, intellectual disability, or developmental delay; developmental delay and short stature
- An abnormal test result suggesting a genetic or chromosomal condition
- Increased risk related to ethnic background
- Consanguineous marriage, the risk of certain genetic conditions is increased in children of blood-related couples
- Infertility, exposure to a teratogenic substance, multiple malformations
- A need to have the results of at-home genetic tests interpreted
Results
Before counseling, it is expected that the diagnosis has already been established. The genetics specialist takes a detailed family history and draws up a family tree (pedigree); if needed, an examination is performed and chromosome or DNA analysis is requested. If a diagnosis has been made, the counselor explains how the condition is inherited, the likelihood of passing it to future generations, and the available testing and treatment options.
The scope covers single-gene disorders, chromosomal disorders, multifactorial disorders, trinucleotide repeat disorders, and mitochondrial disorders.
Risks and Limitations
Genetic counseling is not a test but a process of evaluation and information; on its own it does not establish a diagnosis. Any tests recommended after counseling remain the individual's own decision.