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

  1. The consequences of the disorder
  2. The probability of developing or transmitting the disorder
  3. 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:

  1. Did the family themselves initiate the request for genetic counselling or did someone else?
  2. Is there an unspoken or an exaggerated fear of the disorder?
  3. Do feelings of guilt or hostility exist between parents?
  4. Is the rest of the family supportive or are there tensions between the generations?
  5. 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


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