Genetic Counselling: An introduction
Genetic counselling: The process by which patients or relatives at risk for a disorder that may be hereditary are advised of
- The consequences of the disorder
- The probability of developing or transmitting the disorder
- The ways in which this may be prevented, avoided or ameliorated
It involves elements from several disciplines:
- psychotherapy – supportive counselling of a social field
- diagnositics – clincial medincal testing of the inherited disease
- mathematics – complex mathematical, statictical process involving the estimationo risk
The core elements of genetic counselling practice
- Diagnostic and clinical aspects
- Documentation of family and pedigree information
- Recognition of ineritance patterns and risk estimation
- Communication and empathy with those seen
- Infomation on available options and further measures
- Support in decision-making and for decisions made
Considerations when interviewing:
- Did the family themselves initiate the request for genetic counselling or did someone else?
- Is there an unspoken or an exaggerated fear of the disorder?
- Do feelings of guilt or hostility exist between parents?
- Is the rest of the family supportive or are there tensions between the generations?
- Is an affected child valued, loved, or regarded as a burden?
Note: The answers to most of these questions may be obtained by an astute clincian without the need for direcr questioning.
Symbols used in drawing of a pedigree