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 cancer themselves. Some family histories are more consistent with an inherited risk of cancer. For example, a family that has:
- 3 close relatives with cancer
- in 2 generations
- with 1 person diagnosed before 50
Yes - if you want to claim a Medicare Rebate. The referral can come from a GP or specialist and should be addressed to Dr Hilda High at Sydney Cancer Genetics.Read More
The first appointment takes 45mins to an hour. We will confirm your personal and family history of cancer, assess your level of risk and discuss ways to reduce this risk.
There is no obligation to have a genetic test.
If genetic testing would be useful, we will discuss the pros and cons and any costs involved. Testing can usually be organised on the day of the appointment, if you want.
We write back to the doctors involved in your care. You get a copy of this letter and a copy of your pedigreeRead More
You should bring your Medicare Card, your completed family history questionnaire and your referral. We encourage you to bring family members, as the information may relate to them. You are also welcome to bring a support person or "another set of ears".Read More
Yes! We see people whose family history indicates there may be an increased risk of cancer, whether they have had cancer themselves or not.
Genetic testing can also be offered to people who have not had cancer.
While it usually provides more accurate information if the youngest affected person in the family, or the person with the rarest cancer, is tested first, sometimes this just isn't possible.Read More
Genetic testing is the process of looking for changes affecting a gene. This could mean:
- a spelling mistake (called a mutation or pathogenic variant) in the gene itself
- a change in the DNA near the gene that affects how the gene works
- or even large changes involving chromosomes that carry many genes
When most people talk about genetic testing, they are thinking of germline genetic testing. Germline genetic testing looks for inherited mistakes.
Genetic testing of the cancer itself, called somatic testing, helps to guide cancer treatments. Somatic testing can also provide clues as to whether the cancer was due to a germline mutation.Read More
Yes, if you want to. But, you don't have to....
At the appointment, we'll review your personal and family history and we'll also discuss the implications and limitations of genetic testing. This is so that you can provide informed consent.
If you meet the Medicare criteria, the testing will be bulk billed. Testing can usually be organised on the same day, via a simple blood test.
If you don't meet testing criteria, self funded testing can be organised.Read More
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 nor are we associated with any particular lab. You know we are always acting in your interest. Quality is important and so is how your DNA is stored and handled. We only use NATA accredited Australian labs.
The cost of genetic testing is always discussed up front, along with the potential benefits and limitations of testing. And, if you are eligible for a Medicare-funded testing, it will always be bulk billed.Read More.
It has nothing to do with synagogues or religious belief!
Some genetic changes (mutations or pathogenic variants) are more common in certain groups of people than others. These mutations are referred to as “Founder Mutations”. They occur when people with the same background remain in a separate group due to religious, cultural or geographic reasons.
Some founder mutations have been passed down over hundreds or even thousands of years.
So…. why would your doctor ask you if you are Jewish if you have breast cancer?Read More.
No! It depends on what your risk is and what you do about it.
There are many things you can do to reduce your risk of breast cancer. You may consider starting breast cancer screening at a younger age, using breast MRI as well as mammograms. You may concentrate on lifestyle factors such as a healthy diet and exercise. And, depending on the risk, you may consider risk reducing surgery or medications such as Tamoxifen.
Breast cancer that occurs at a young age may be a clue to an inherited genetic cause. Genetic testing can help to sort this out.Read More.
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.
For example, a special stain can be applied to a bowel cancer. If there is loss of staining for a particular protein, it means that the gene that makes that protein isn’t working. The damaged gene may have been inherited or the damage may just have occurred in that bowel cell as the cancer developed. Genetic testing is now Medicare funded if there is loss of staining for the mismatch repair proteins.
Also, the staining test can be done on the tiny samples that labs store for many years after surgery, if it wasn't performed at the time.Read More.
You can't inherit cancer but you can inherit an increased risk of cancer .
How does this happen? Some families carry a mutation (also known as a pathogenic variant) in a gene that provides protection from cancer. If the gene isn't working cancer risk goes up. Cancer will then occur more often and at a younger age. For example, families with a BRCA1 or BRCA2 mutation will have more breast, ovarian, prostate and pancreatic cancer and the cancers may occur in the 30s or 40s.
Germline mutations are present at birth and can be passed from a mother or a father to their child. That's why cancers will run in the family. It's also where germline genetic testing comes in. If you know you carry a high-risk mutation, you can do something about it.Read More.
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 fault in a gene (known as a genetic mutation or pathogenic variant) has been identified in a blood relative.
It does not mean that you will get cancer!
You may carry the same germline mutation found in your blood relative. If you do carry it, it was present long before you were born. Knowing about it allows you to do something about it.Read More.
At Sydney Cancer Genetics, we see people who are concerned about inherited cancer risk. This is true whether the person has had 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, it can be organised.Read More.
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 members of that family. It is also used to determine who might benefit from genetic testing, increased screening and other risk reducing strategies.Read More.
There are 3 possible outcomes to a genetic test involving a mutation search:
- find a mutation (a "positive" result)
- find no mutations (an "uninformative" result)
- or find a variant of uncertain clinical significance
Cancer cannot be inherited but cancer risk can.
Finding no mutation (that is, no Class 5 or Class 4 variants) is called an uninformative result as it doesn't explain that person's cancer or the cancers in the family. The old term was an inconclusive genetic test. It's not used any more as genetic testing now detects 95% to 99.5% of mistakes (and that's pretty conclusive!).
A variant of uncertain clinical significance (VUS) is a DNA change that is not yet fully understood. The VUS may be unique or may have been found in other individuals or families.
Sometimes a lot of work may have been done to determine the effect of that specific DNA change. However, to classify the variant as likely pathogenic (Class 4) or likely benign (Class 2), you need to be at least 95% sure. And that's a pretty high bar!
By definition, the effect of a variant of uncertain clinical significance (VUS) on a person's cancer risk is unknown.
Screening and management are based on the personal and family history. That's why seeing a Genetic Oncologist prior to ordering the testing is a good idea.
Predictive testing looks for a specific mutation (also known as a pathogenic variant) in a high risk gene. Predictive testing is offered to blood relatives of the person who was found to carry the mistake. It's a “yes or no” kind of test: either the mutation is there, or it’s not.
Medicare funded predictive testing is available for most breast, ovarian and colon cancer risk genesRead More
Testing a tumour or cancer is called somatic testing. Somatic testing can be done on a biopsy or the resected cancer. In Australia, a tiny piece of the cancer is stored for 7 to 10 years. That means somatic testing can occur many years after a cancer is diagnosed.
Somatic genetic testing can help to:
- Determine cancer treatment options via biomarker testing
- Screen for hereditary cancer syndromes (eg via IHC testing or targeted somatic gene testing)
- Find druggable targets
A Genetic Oncologist is a doctor who specialises in genetic causes of cancer, in particular hereditary cancer syndromes. Most Genetic Oncologists first trained as Medical Oncologists and some still diagnose and treat cancer.
By contrast, a Clinical Geneticist is a doctor, often a paediatrician, who has specialised in the diagnosis and management of genetic conditions, including birth defects, learning difficulties, inborn errors of metabolism and other conditions which may range from very rare to common (such as cystic fibrosis). Some clinical geneticists have a particular interest in hereditary cancer syndromes.
Dr Hilda High is a Genetic Oncologist. She is a Medical Oncologist who specialises in hereditary cancer syndromes.
At Sydney Cancer Genetics, we only diagnose and manage cancer related syndromes.