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Genetic counselling for familial hypercholesterolaemia 

What is genetic counselling?

Having been clinically diagnosed with possible familial hypercholesterolaemia (FH), you may be offered genetic testing. Genetic testing is used to determine if there is an underlying genetic cause for your clinical features.

The outcome of a genetic test may have medical and psychological consequences for both the person tested and for their relatives. It is important that these issues are discussed and considered before the test is undertaken.

Genetic counselling facilitates these discussions, both pre-test and post-test, giving you the opportunity to ask questions and to understand the implications of this test for you and your relatives.

What is a genetic counsellor?

A genetic counsellor is a qualified allied health professional. This requires a master's degree in genetic counselling together with supervised clinical experience. Genetic counsellors are certified by the Human Genetics Society of Australasia and comply with the relevant professional and legal obligations of healthcare providers in Australia.

Genetic Counselling with Sonic Genetics

Sonic Genetics aims to assist in facilitating pre-test and post-test genetic counselling for all FH patients requesting testing through their local Sonic Healthcare Australia pathology laboratory.

Sonic Genetics will facilitate testing by request from your referring clinician.

What can I expect from a genetic counselling session with Sonic Genetics?

During your phone consultation, your genetic counsellor will discuss with you:

  • Your family history
  • The process of genetic testing
  • The potential outcomes/results of testing
  • The limitations of a genetic test
  • Consent for testing
  • The implications of your result for you and your family
  • Links will be provided to appropriate clinical services

All genetic counselling is conducted in accordance with the guidelines of the Human Genetics Society of Australasia, ensuring that high ethical and professional standards of clinical practice are maintained.

The genetic counsellors at Sonic Genetics do not receive any inducement to encourage you to proceed with genetic testing i.e. you are free to make your own decision about what you would like to do. 

What is the process of genetic counselling with Sonic Genetics?

Genetic counselling will be provided over two phone sessions, before and after genetic testing occurs.

  1. Pre-test counselling
    • Upon receipt of the request (or prepayment if not covered by Medicare) by Sonic Genetics, a genetic counsellor will contact you to arrange a mutually convenient time. Consultation takes approximately 30 minutes
    • During this session, your genetic counsellor will answer any questions and address any concerns you may have
    • At the end of the session, should you decide to go ahead with the testing, you will be asked to sign a consent form. This consent form will be sent to Sonic Genetics, and they will then proceed with testing your blood sample. Please note that should you choose not to proceed with genetic testing, the test fee will be refunded in part if paid for privately.
  2. Post-test counselling, occurs once you have received the FH genetic test result from your cardiologist:
    • During this session, we will review your result, discuss the possible implications of your result for you and your family and offer advice on further screening if relevant
    • You may also be provided with a list of clinics should your relatives wish to seek their own advice

After each counselling session, a written record of your discussion will be sent to both you and your doctor by your genetic counsellor.

What is the Australian Genetic Heart Disease Registry?

The Australian Genetic Heart Disease Registry ( is a research program investigating the genetic basis of heritable cardiac disease. It is based at the Centenary Institute of the University of Sydney, and is closely affiliated with specialty cardiology clinics at Royal Prince Alfred Hospital in Sydney.

As part of the counselling process, you may be invited to learn more about the Registry’s research activities, and to potentially provide information to the Registry. You are free to accept or decline the invitation, and you are free to change your mind. Your decision will have no impact on the care provided by Sonic Genetics or the genetic counsellors who provide the services described above.