Genomics in general practice

Genomics in general practice

Clinical Genetics and Genetic Counselling

Clinical Genetics and Genetic Counselling

Genetic counselling is a communication process that aims to provide information and supportive counselling to members of families regarding problems in growth, development and health that may have a genetic basis.

Patients can be referred to clinical geneticists and genetic counsellors available at genetics services in each state or territory. The process of professional clinical genetics and genetic counselling involves:

  • assessment to advise if genetic testing is indicated and to facilitate genetic testing for diagnosis of a genetic condition
  • assisting the person to comprehend the medical facts regarding a genetic condition, including the diagnosis, probable course of condition and available management
  • appreciate the way heredity contributes to the condition and risk of occurrence in relatives
  • understanding the options for dealing with the risk of recurrence
  • choosing the course of action that seems appropriate in view of their situation, and risk and values, and act in accordance with that decision
  • making the best possible adjustment to the condition in an affected family member and/or to the risk of recurrence of that condition

During a genetic consultation, the geneticist/counsellor may discuss the following issues with the patient:

  • Information about the condition
    • key clinical features
    • genetic contribution to the cause of the condition, including gene(s) involved, inheritance pattern, likelihood that a person who inherits the genetic susceptibility will develop the condition
    • interactions between genes and the interplay between genes and the environment
  • Information about genetic testing
    • availability of testing
    • advantages and disadvantages for deciding whether to undergo genetic testing
    • understanding and using genetic test results
  • Implications for family members
    • medical and psychological implications
    • implications for future reproductive choices, employment and insurance
    • issues concerning the privacy and confidentiality of genetic information

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