FAQ

general

Who should see a Cancer Genetics Specialist?

Anybody who is concerned about their own risk or their family’s risk of cancer can see a Cancer Genetics Specialist such as a Genetic Oncologist, even if they haven’t had a cancer themselves.

However, some family histories are more consistent with an inherited risk of cancer. For example, a family that has all of the following features:

  • 3 close relatives with cancer
  • 2 generations
  • 1 person is under 50

Other clues can be:

  • Cancer occurring at a young age
  • A family member with more than one type of cancer
  • Specific types of cancers occurring together in the family (eg breast and ovarian cancer)
  • Rare cancers
  • A particular type of a common cancer (eg “triple negative” breast cancer)

How do I make an appointment?

Although we see patients throughout Australia, we have just one phone number, one fax, one email and one address for correspondence:

  • Fax: 61 2 8095 9421 (preferred method for receiving referrals
  • Email:
  • Mail: PO Box 845 Broadway, NSW, 2007, Australia
  • Phone: 61 2 8964 9921

You can contact us directly but you will also need a referral from your doctor (GP or specialist) to claim the Medicare rebate.

If you want to get started, you can download our Family History Questionnaire and discuss the completed document with your doctor.

Do I need a referral?

Yes. We need a referral from your doctor in order for you to obtain a Medicare Rebate. The referral should be addressed to Dr Hilda High at Sydney Cancer Genetics.

What happens at an appointment?

The first appointment takes around 45mins to an hour. We will confirm your personal and family history of cancer and assess your level of risk.

There is no obligation to have a blood sample taken for genetic testing. If genetic testing would be useful in your family, we will discuss the pros and cons and determine who should be tested first in your family. We will also discuss the costs involved.

We will also provide personalised advice on cancer screening and cancer risk reduction, regardless of whether genetic testing is performed.

What should I bring to an appointment?

You should bring your Medicare Card, your completed family history questionnaire, if you have not already sent it through, and your referral. You may want to bring a support person or other family member. If they are related by blood (eg daughter or sister) and the information may also relate to them, they should also bring a referral from their doctor.

We have provided more information about “Drawing a Family Tree or Pedigree“, including free online tools and a questionnaire you can print out, to help you.

I don’t have cancer, can I still make an appointment?

Yes, we see people whose family history indicates there may be an increased risk of cancer, whether they have had a cancer themselves or not.

What is genetic testing?

Genetic testing is the process of looking for changes in a gene (or even a chromosome or protein). These changes may result in diseases such as cancer. In this case the change is called a mutation.

Most genetic testing looks for mutations in DNA, the language of the genetic code. DNA can be obtained from a simple blood test and, in some circumstances, from saliva or a cheek swab. The costs of genetic testing are completely covered by your hospital in some cases.

The common types of genetic testing are described below.

Mutation Search

The first genetic test done in a family is called a “mutation search”. It is the most expensive, costing around $1000 per gene. The search involves looking for spelling mistakes in the gene, or pieces added or removed, that mean the gene can’t do its job properly. This kind of testing is usually only done in an affected person (someone who has had a cancer) to increase the chances of finding a mutation.

Predictive Testing

When a mutation has been found, testing for this mistake can be offered to blood relatives. This is call predictive testing and is a “yes or no” kind of test: either the mutation is there, or it’s not. This kind of testing costs $200 to $400.

Founder Mutations

Some groups of people have been isolated by geography, culture or religion. By chance, particular mutations are more common in some of these groups and are called Founder Mutations. This is a special type of Predictive testing. An example is testing for 3 specific mutations found in the BRCA1 and BRCA2 genes in people of Ashkenazi Jewish Heritage.

Tumour Testing

Sometimes, testing the tumour itself can provide important clues as to whether the cancer was caused by a “faulty gene” that is being passed down through the family. Tumour testing can involve special stains or testing for genetic mutations in the cancer itself.

Will I get a genetic test?

Not everyone wants or needs a genetic test.

Sometimes, a mutation (change) in a single gene can be responsible for the cancers clustering in a family. If this looks like the case in you or your family, we will discuss the benefits as well as the limitations of genetic testing.  This genetic counselling is important.  For some conditions, genetic testing provides powerful and very useful information. For other conditions, it can be more complex and personal.

Genetic testing, via a blood test, is organised separately to your consultation. At Sydney Cancer Genetics we can provide personalised screening advice and risk reducing strategies, even if no genetic testing is done.

How much does genetic testing cost?

At Sydney Cancer Genetics, genetic testing is organised separately from your medical consult. There is never any obligation to have a genetic test.

We make no money from any testing ordered so you know we are always acting in your interest. The cost of genetic testing is always discussed up front, along with the potential benefits and limitations of testing.

Genetic testing can cost from $200 to over $1000 depending on what testing is done. Genetic testing is not usually covered by either Medicare or private health insurance. However, if certain criteria are met, the cost of testing may be covered by your hospital. We will always offer this if you are eligible.

What is a Cancer Pedigree?

A Cancer Pedigree is a family history that concentrates on who in the family has had a cancer.

It is a very useful tool to assess inherited cancer risk and to estimate the potential risk of cancer for family members. It is also used to determine who might benefit from genetic testing, increased screening and other risk reducing strategies.

We have provided more information about “Drawing a Family Tree or Pedigree“, including free online tools and a questionnaire you can print out, to help you.

It seems as though everyone in my family has had cancer.

There are many reasons why cancer may seem to run in family.

Firstly, cancer is a common disease.  In Australia, 2 out of 3 people can expect to have some type of cancer during their lifetime and 1 out of 10 women will be affected by breast cancer by age 75.

Fortunately, most cancers occur by chance. Mistakes get made in the genetic code when a cell, such as a breast cell, copies itself. If these mistakes are in growth genes or cancer protection genes, a cancer, such as a breast cancer, can occur. This kind of cancer is not inherited and tends to occur at an older age.

Some factors increase the chance of mistakes being made.  An example is sun exposure and melanoma.  Families often share lifestyle and environmental factors that may either increase or decrease the risk of cancer.

Occasionally, there is a mistake in an important gene that was present at birth. This kind of change can be passed from a father or a mother to their child.

If you are concerned about your family’s history of cancer, you should discuss it with your doctor.  You can also read more about clues pointing to an inherited cause for the cancer in your family.

My mum had breast cancer at a young age. Does that mean I will too?

Not necessarily. It depends on her age, the type of breast cancer and whether she has a strong family history of breast cancer and/or ovarian cancer.

If you have relatives diagnosed in their 80s, you are likely at average risk. Breast cancer is a common cancer. In Australia, 1 out of 10 women will be affected by breast cancer by age 75.  And, the average age for breast cancer is 60.

Breast cancer that occurs at a young age may be a clue to that there is an inherited genetic cause.  Some other clues include:

  • breast cancer under 40 years.
  • a family history of both breast cancer and ovarian cancer.
  • a male relative with breast cancer.
  • more than one relative with breast cancer under 50 years.
  • bilateral breast cancer, with the first cancer occurring before 50 years.
  • particular types of breast cancer, such as the “triple negative” type.

Sounds like your family? Complete our Family History Questionnaire and discuss it with your doctor. Or make an appointment to discuss your family history of breast cancer with our genetic oncologist, Dr Hilda High

At Sydney Cancer Genetics we provide personalised strategies to reduce your breast cancer risk. These may include starting breast cancer screening at a younger age, using breast MRI as well as mammograms, lifestyle factors and even considering risk reducing surgery or medications.

We can organise genetic testing, via a blood or saliva test. In some cases, we may even test the genes in the stored tumour block from a relative’s cancer.

How much does genetic testing cost? The cost depends on which gene or genes we test. It is much more affordable these days. It can range from as little as $50 US to over $10,000 for a full genomic test of a cancer. On average, it costs between $400 and $1000 in Australia. And, if you are eligible, we can refer you into the public system where the test may be free.

I’ve been told there’s a fault in a gene in our family. What do I do now?

You may have received a “to whom it may concern” letter from a cancer genetics clinic, asking you to contact your doctor. These letters are sent out when a “faulty gene”  is identified in a relative who has had a cancer.

Firstly, it doesn’t mean that you will get cancer.  It doesn’t even mean that you have inherited the “faulty gene”.

What the letter is telling you, or your relative if you were notified in person, is that there is chance that a fault (usually called a mutation) in an important gene has been identified that is associated with an increased risk of cancer. These mutations can be inherited.  That is, the faulty copy of the gene is passed to a child, either from a mother via her egg or a father via his sperm.

What should you do now?

You should visit your doctor so that they can organise a referral to a familial cancer centre such as Sydney Cancer Genetics.

This does not mean that you have to have a genetic test.  It is an opportunity to find out more about what the particular gene is, what it does and what sorts of problems can arise when that particular gene isn’t working properly.

You can then decide to have blood taken for predictive genetic testing.  This will tell you whether you have inherited the genetic mutation or not. Your genetic oncologist, genetic counsellor or genetist will discuss the benefits and limitations of this testing, as well as any costs involved.

It is important not to ignore the situation. While in some cases the risk of particular cancers can be substantially increased, these risks can often be reduced again with increased screening and management.

I just want to get some advice about the genetics of cancer.

At Sydney Cancer Genetics, we see people who are concerned about inherited cancer risk.  This is true whether the person has had a cancer themselves or not.

Discussing your family history and your concerns with a genetic oncologist often provides reassurance.  This is because most cancer is NOT caused by a inherited mutation in an important gene.

We provide personalised advice regarding cancer screening and risk management.  If  a genetic test may help, we can discuss the benefits and limitations.

 

Why do all my doctors ask if I’m Jewish. I’ve just been diagnosed with breast cancer.

It has nothing to do with synagogues or religious belief per se!

Some genetic changes (mutations) are more common in certain groups of people than others.  These mutations are referred to as “Founder Mutations”.  They occur when groups of people are separated due to religious, ethnic or geographic reasons.  Some examples are Thalassemia in people from South East Asia and Haemochromotosis in Caucasians.

People of Ashkenazi Jewish heritage (that is with a German, Polish or Russian background) are more likely to carry specific mutations in BRCA1 or BRCA2.

BRCA1 and BRCA2 are important genes.  If they are not working properly because of a mutation, the risk of certain cancers, especially breast and ovarian cancer, is increased.

If you are of Ashkenzai Jewish heritage and you or a close relative has had cancer, you should speak to your doctor or a cancer genetic specialist.

How can I tell if there’s a faulty gene in my family?

Only 2 to 10% of cancer is caused by “faulty genes”.

If an important gene isn’t working properly because of an inherited change (referred to as a mutation), then the risk of certain cancers may increase.

If this is the case, then there may be more cancer, rare cancers or cancers occurring at a younger age than average.

Determining your family cancer history or pedigree can be very useful in determining what is going on in your family

I had bowel cancer 4 years ago and now my doctor wants to test the tumour

Sometimes, testing the tumour itself can provide important clues as to whether the cancer was caused by a “faulty gene” that is being passed down through the family.

In colon cancer, a special stain can be applied to the tumour.  If there is “loss of staining” for a particular protein, it may mean that the gene that makes that protein isn’t working.

This testing can be done on the tiny samples that labs store for many years after surgery.

The results of this test are just a guide.

For example, the change to the gene may have only happened that particular part of the bowel (the most common case).  These types of changes are called somatic mutations and can’t be passed on.

Sometimes however, the genetic change came from a parent, either from the father via the sperm or the mother via the egg.  This kind of change is called a germline mutation.  Germline mutations can be inherited and may be associated with an increased risk of certain cancers.

Depending on the results, your doctor may refer you to a cancer genetics specialist to discuss the likelihood of an inherited genetic mutation and the benefits and limitations of a genetic test.

Should I take Tamoxifen to reduce my risk of breast cancer?

Tamoxifen, when taken daily for 5 years, can reduce the risk of breast cancer. This information sheet on Tamoxifen and similar drugs, discusses some of the pros and cons. For more information, talk with your doctor.