Genomics in general practice

Genetic counselling

Last revised: 30 Nov 2018

What is 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 genetic counsellors available at genetics services in each state or territory.

The process of professional genetic counselling involves assisting patients 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
  • understand the options for dealing with the risk of recurrence
  • choose the course of action that seems appropriate in view of their situation, and risk and values, and act in accordance with that decision
  • make 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 counselling consultation, the 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.

Resource for patients

New South Wales’s Centre for Genetics Education maintains a list of genetics services