Genetic counseling.
Genetic counseling is a communication process that aims to help individuals or families:
- understand the medical, genetic, and psychosocial aspects of a genetic disorder,
- assess risk of occurrence or recurrence,
- make informed medical and reproductive decisions.
It integrates genetic knowledge with counseling principles, not just test interpretation.
Main Goals of Genetic Counseling
- Provide accurate genetic information
- Explain inheritance patterns and risks
- Support autonomous decision-making
- Reduce anxiety and misconceptions
- Assist in coping with diagnosis or risk
I. INDICATIONS FOR GENETIC COUNSELING
Genetic counseling is indicated whenever there is a known or suspected genetic risk.
Common Indications
- Family history of genetic disease
- Congenital anomalies or dysmorphic features
- Intellectual disability or developmental delay
- Infertility or recurrent pregnancy loss
- Abnormal prenatal screening results
- Known carrier status
- Advanced maternal age
- Consanguinity
II. TYPES OF GENETIC COUNSELING
1. Prospective Genetic Counseling
- Performed before disease occurs
- Aims at risk estimation and prevention
Examples:
- Carrier screening
- Preconception counseling
- Prenatal counseling
2. Retrospective Genetic Counseling
- Performed after diagnosis
- Aims at recurrence risk estimation and family planning