FH is one of the most common genetic disorders in our community. It affects 1 in 250 people. This amounts to 100,000 people with FH in Australia. To date, approximately 90,000 people with FH in Australia are undiagnosed.

A person with FH requires earlier and stronger treatment to bring the cholesterol level down; A person with FH can receive special drugs on the Pharmaceutical Benefits Scheme (PBS) that may be necessary to control their cholesterol level; A person who is identified with FH and managed accordingly has a much lower chance of developing serious complications e.g. a heart attack.

What tests are used to diagnose FH?

FH can be clinically diagnosed using a combination of medical history, family history, the doctor’s clinical examination and measurement of cholesterol level in blood. However, genetic testing provides a definitive diagnosis of FH, and helps to define a person’s risk of serious complications such as heart disease or stroke. There are currently over 2,000 different genetic variants that cause FH. Sonic Genetics can identify these using specialised testing.

Who should be tested for FH?

The Australian Department of Health recommends that a person who fulfills one or more of the following conditions that can be found in our website be tested for FH:

What does the genetic test for FH cost?

Medicare covers the cost of genetic testing for FH in the four situations specified above. Sonic Genetics also provides genetic testing for a private fee if you do not meet these criteria. Your doctor will inform you FH is likely and the cost, if any, of genetic testing.

How can a patient at risk of FH arrange for genetic testing?

Your general practitioner (GP) will check your cholesterol levels, medical history, and family history to assess the possibility of FH. We recommend that patients with a possibility of FH are referred to a doctor specialising in lipid disorders for review and consideration of genetic testing. Medicare rebated genetic testing must be requested by a medical specialist.

Is genetic counselling required for genetic testing for FH?

Genetic testing can raise a number of important issues that should be discussed before testing. Pre-test genetic counselling can give you an opportunity to learn and ask questions about what is involved in the test and how it might impact both you and your family. We recommend that these discussions be managed either by an FH specialist or by a genetic counsellor before you have the test.

What results could I expect from my genetic test?

The different results you may get from genetic testing for FH will depend on the type of testing you have. If you are the first person in your family having genetic testing because your doctor has suspected FH, this is called diagnostic testing.

What should be done if the FH genetic test does not find an abnormality?

A pathogenic mutation is not identified in up to 10% of people with definite clinical diagnosis of FH. If you have hypercholesterolaemia and we are not able to identify a pathogenic mutation, you may be one of those people.

What should be done if the FH genetic test finds an abnormality?

If the result of your FH genetic test is that a pathogenic mutation has been found, this confirms that you have a genetic diagnosis of FH. All people with a genetic diagnosis of FH develop hypercholesterolaemia if leftuntreated. Your doctor will advise what further tests, lifestyle changes and medications are recommended for you.

Should family members be tested for FH?

FH runs in the family. It is usually passed on in an “autosomal dominant” pattern; this technical term describes the pattern of inheritance of FH within the family.

Can FH affect children?

Yes, children with FH can develop hypercholesterolaemia during childhood. Early treatment has been shown to manage cholesterol levels and reduce the chance of cardiovascular disease in later life. Both national and international guidelines recommend that children in a family with FH be tested by 10 years of age.

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.

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.
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 (www.heartregistry.org.au) 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.

Medicare Rebates for 3-Gene Carrier Screening Available from 1 November 2023*

To learn more about Sonic Genetics, RCS, and post-test counselling, visit www.sonicgenetics.com.au/rcsd.