Genetic Counselling and Testing


Genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process involves:


  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
  • Education about inheritance, testing, management, prevention, resources and research.
  • Counselling to promote informed choices and adaptation to the risk or condition.

At WOMEN Centre, genetic counselling is usually related to a personal and / or family history of cancer. Familial cancer is a specialised area of clinical genetics; if you are interested to receive genetic counselling for a different condition, please contact us to discuss your needs.


Cancer Genetic Counselling


Individuals with a personal and / or family history of cancer may be interested to learn whether there are particular factors that led to the cancer development, whether family members are at increased risk of cancer, and how to manage potential risks. Usually there are multiple factors that contribute towards cancer development, including advancing age, lifestyle, environment, chance and, in some families, an inherited gene fault.


Cancer is a common condition, affecting around 1 in 3 Australians during their lifetime, and therefore it is not unusual for a number of individuals to be affected by cancer in any given family. However, a small proportion of cancers are caused by a genetic cancer predisposition syndrome. Genetic counselling can help to clarify whether an inherited gene fault is the cause of cancers that have occurred in a family, and can help at-risk family members understand and adapt to the implications of such conditions.


Some of the more common indications for cancer genetic counselling include:


  • A cancer predisposition gene fault has previously been identified in the family.
  • Young age at diagnosis of cancer (generally under 50 years).
  • Multiple primary cancers of the same type or of different types, in one individual.
  • Multiple affected family members, over multiple generations.
  • Ashkenazi Jewish ancestry.
  • High grade epithelial ovarian cancer.
  • Male breast cancer.
  • Triple negative breast cancer.

Process of Genetic Counselling


A referral is not required, but is preferred.


A Family History Questionnaire (FHQ) will need to be completed in advance of appointment. The FHQ can be completed online, via WOMEN Centre mobile application or a paper version can be completed and returned.


Once the completed FHQ has been received, it may be necessary for our genetic counsellor to review some of the client’s affected family members' medical records - ideally, histopathology reports are obtained, which requires the consent of the affected individual (or, if deceased, their next of kin). Therefore, the client may be asked to facilitate completion and return of a consent form by the family member(s) of interest, which can also be completed online or a paper version may be used. Alternatively, if the client has have access to this information, it can be forwarded to our genetic counsellor directly.


Clinic Appointment


When the necessary information has been obtained, it will be analysed by our genetic counsellor and the clinical geneticist. Then, an appointment will be arranged to discuss the family history of cancer and its implications.


During the appointment, our genetic counsellor can:

  • Address your concerns and questions relating to the family history of cancer.
  • Assess the likelihood of a familial cancer predisposition syndrome.
  • Provide information about inherited cancer predispositions.
  • Recommend risk management options.
  • Provide support and short-term counselling.
  • Discuss whether genetic testing is indicated in your family.
  • Arrange genetic testing.

If genetic testing is indicated, our genetic counsellor will discuss the potential advantages and limitations with the client. In order for testing to proceed, the client must provide written consent and have a blood sample collected. Testing is performed at an Australian laboratory that is accredited by the National Association of Testing Authorities and The Royal College of Pathologists of Australia. Results will become available approximately four weeks after the blood sample is collected (this timeframe may vary, depending on the particular test that is requested – some tests take several months), and will be discussed at a review appointment with our genetic counsellor.


Costs


  • Initial appointment with analysis of family history is between $150 to $295.
  • Genetic testing and result appointment is between $500 to over $2500. Eg Comprehensive BRCA gene testing and results appointment - $1395.
  • Specific costs are available from WOMEN Centre upon request.
  • Please note that testing costs are subject to change.
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