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Genetic counselling for other heritable disorders

What is genetic counselling?

The result of a genetic test for a heritable disorder may have implications and consequences that extend beyond the initial reason for doing the test. If the genetic test identifies a heritable genetic error (or “mutation”) in the person being tested,

  • this may be sufficient to indicate the cause of that disorderEd Counselling A4 2018 Final
  • it may indicate that the person being tested is at increased risk of other disorders in later life
  • the information may help the doctor to choose more effective treatment or better investigations
  • the result may be embarrassing or distressing for the person tested
  • the result may mean that there is a high chance of other family members having the mutation and developing the disorder in the future
  • this may be distressing to family members, whether or not they have an increased chance of developing the disorder
  • the result may implications if the person tested were to seek new life insurance or disability insurance.

A genetic counsellor is a certified allied health professional with training in genetics and helping people work through the implications of a genetic test for themselves and their families. Genetic counsellors are available through Clinical Genetics Services in the public sector in each State and Territory, in some private hospitals and clinics, and in private practices across Australia. Some genetic counsellors provide telehealth services in addition to offering face-to-face appointments.

You can find details of genetic counselling services across Australia here. Genetic counselling is also available through Sonic Genetics for selected genetic tests (see below).

Is genetic counselling required when genetic testing for a heritable disorder?

Genetic testing for a familial disorder can raise clinical, psychological, social, and financial issues for the patient and relatives that merit careful pre-test discussion. We recommend that such pre-test discussions be managed either by a medical specialist experienced in the management of the disorder being tested or by a genetic counsellor.

  • If pre-test counselling is provided by the requesting doctor, we ask that this be documented by using the Sonic Genetics consent form. Other request forms may not necessarily be accepted as we require consent for specific matters that are detailed on our form.
  • If pre-test counselling is being provided by a genetic counsellor, we ask that documentation of this e.g., a copy of the signed consent form, be included with the request form. Alternatively, the doctor can request that genetic counselling be provided by Sonic Genetics by noting this on the test request.

Does Sonic Genetics provide genetic counselling?

Sonic Genetics offers pre- and post-test genetic counselling for patients having a genetic test for any of the following disorders:

  • familial hypercholesterolaemia
  • hereditary breast/ovarian cancer
  • hereditary colorectal cancer

The request for genetic counselling must be made by the doctor requesting the test and indicated on the request form. We do not accept referrals for genetic counselling directly from patients.

The genetic counselling is provided by a certified genetic counsellor by phone or video conference, usually within a few days of the request being received, and at no additional cost to the patient (conditions apply). This service addresses the genetic, psychological, ethical, social and financial aspects of the particular genetic test, and is not a general genetic counselling assessment of family history or genetic risks.

This service does not replace the typical medical management for patients who are shown to have a mutation which causes a familial disorder. Responsibility for the medical management remains with the patient’s referring doctor.

Who is eligible for free genetic counselling with Sonic Genetics?

Any patient with the disorder who is referred for Medicare-rebated diagnostic genetic testing for one of the disorders mentioned above (i.e., tested with the relevant gene panel provided by Sonic Genetics) is eligible for this free service. A fee may apply for private patients referred for testing; please contact us on 1800 010 447 for details. Please note that certain conditions must be fulfilled for a test to be rebated by Medicare; in most situations, the test request must be made by a medical specialist or consultant physician. The doctor should request genetic counselling by Sonic Genetics on the test request form and ask the patient to have a blood sample collected from any Sonic collection centre.

Unaffected relatives of a patient with a mutation referred for cascade genetic testing are usually not eligible for this free service (please check with us on 1800 010 447 for details). We can provide genetic counselling in this situation for a fee; please contact us for details.

How does the genetic counselling service work?

Genetic counselling is provided as a clinical service on the basis of a referral from the patient’s doctor. On receipt of the request form and blood sample, we will arrange for a genetic counsellor to contact the patient by phone and arrange a teleconsultation. The teleconsultation usually lasts 40 minutes or so.

At the conclusion of the teleconsultation, the genetic counsellor will seek informed written consent for the test to proceed. If this is provided, the laboratory will be informed and will proceed to do the test. If the patient declines, the sample will not be tested. The genetic counsellor will write to the patient and doctor confirming the outcome of the teleconsultation. (If the patient declines to proceed and had paid for the test privately, the test cost will be reimbursed, less a charge for the genetic counselling).

The laboratory will report the test result to the requesting doctor, any copy doctors and the genetic counsellor. The genetic counsellor will contact the patient with the test result and, if appropriate, have a further teleconsultation regarding the result. The genetic counsellor will write to the patient and doctor confirming the outcome of the teleconsultation. The requesting doctor can request that such contact with the patient be deferred until the doctor has provided the result to the patient.



The information on this website is provided for your general information and is not a substitute for the specific advice of your treating doctor.