Genetic Testing FAQs
Researching Family Health History
What family health history do I need to collect?
The Pink Hope website offers resources targeted at investigating, assessing and understanding your family health history of breast and ovarian cancer. This can found be in the Am I at Risk section.
The main information you need to collect is who has had cancer in your family, what type of cancer and the age they developed the cancer. You may also like to look at the downloadable kits: in the resource section, in particular the Kiss and Tell and Family History Tree which can help you map the information you collect.
What are the insurance implications in relation to genetic testing?
A family history of cancer and/or genetic testing in you or some of your close relatives can have an impact on the ability to obtain certain types of insurance such as life, disability, trauma and some business and bank loans. Private Health insurance is NOT affected by your family health history or genetic testing.
Insurance companies may make decisions such as not to cover you for the health issues you are at higher risk of, or increase the amount you need to pay for having the insurance in place. They do have to make reasonable decisions based on your risks and you can appeal to decisions if a decision is out of keeping with the risks posed by your family health history or genetic test results.
Insurances policies such as the minimum coverages which are attached to superannuation funds are usually not affected by a family history of cancer or genetic testing but you should always check the terms and conditions.
A fact sheet developed by NSW genetics education provides helpful information about this complex area and how to get more advice.
What are the costs involved in gene testing?
This depends on many factors, in some situations gene testing can be covered by public funding. More detail about genetic testing and the costs associated can be found in the Pink Hope Genetic Testing section of the website.
Why are some families offered publically funded genetic testing to search for a hereditary cause for the history of breast and ovarian cancer and not others?
The genes we know about and can currently test for only explain the risk of cancer in a small number of families with a family history of breast and ovarian cancer. This leaves a larger number of families where the cause/s of the family history of cancer is beyond our current scientific understanding.
Because we have known about genes such as BRCA1 and BRCA2 for many years now Family Cancer Clinics can be more refined in predicting the chance that a family history of cancer is due to a BRCA1 or BRCA2 gene mutation. Families who are not offered publically funded testing often have a chance of a BRCA1 or BRCA2 gene mutation which is well below a 10%. This means it is more likely their family history is due to gene/s or reasons unrelated to BRCA1 or BRCA2.
In other situations, families do meet the threshold to offer BRCA1 and BRCA2 gene testing but there is not a relative who has had cancer to offer genetic testing. Offering testing to a person affected by cancer increases the chance of finding a BRCA1 or BRCA2 gene mutation. In addition it helps with interpreting the results of the test and what this means for the risk of other relatives developing breast and ovarian cancer and their own options for gene testing.
What about people who can’t have genetic testing?
Your doctor and, in relevant situations a Family Cancer Clinic, can provide an assessment of your risk and formulate a plan of how to manage any increased cancer risks posed by your family history of cancer.
Some families may elect to fund the cost of genetic testing of the BRCA1 and BRCA2 genes even if they know their personal risk of having of a BRCA1 or BRCA2 gene mutation is low. There are some things to know about the limitations of interpreting a result when done in this way. Genetic testing that is self-funded can be facilitated by a Family Cancer Clinic or by your GP, and costs between $400-$2000.
Genetic technology is changing quickly, and in the future will be able to understand more about hereditary factors that explain family histories of breast and/or ovarian cancer that we can’t explain today. If you have been seen at a Family Cancer Clinic it is a good idea to keep them informed of new cancers in the family, and to ask every few years if there have been new advances in genetic testing and knowledge which could be relevant to your family.
I do not know my family history – what should I do about understanding my breast cancer risk?
- If you are adopted and do not know anything about your family history, you can talk with your GP about regular breast screening as for all women.
- If you have a diagnosis of breast cancer yourself but do not know your family history, you can talk with your GP, breast specialist or oncologist about whether you might be eligible for genetic testing (this may depend on your age and the exact type of your breast cancer).
- If you do not have breast cancer, but you learn that an immediate relative has had breast or ovarian cancer, you can ask your GP whether you should be referred to a Family Cancer Clinic or not (this may depend on your relative’s age at diagnosis and the exact pathology of their cancer).
I do not know my family history – what should I do about understanding my ovarian cancer risk?
- If you are adopted and do not know anything about your family history, then the risk of ovarian cancer is low – about 1 in 100 women develop ovarian cancer and 99 in 100 do not.
- If you have a diagnosis of ovarian cancer yourself but do not know your family history, you are likely to be eligible for genetic testing and you can ask your GP to refer you to a Family Cancer Clinic.
- If you do not have ovarian cancer, but you learn that an immediate relative has had ovarian cancer, you can ask your GP whether you should be referred to a Family Cancer Clinic or not (this may depend on your relative’s age at diagnosis, and your questions and concerns), for advice about cancer risks and options for prevention.
- You should always talk with your GP if you have any persistent abdominal symptoms.
When can my children be tested?
Extensive research in families with known genetic risk due to BRCA1 and BRCA2 mutations has shown there is no increased risk for cancer in children. Therefore, there is no medical benefit to testing a child. In addition, by testing a child, there is no longer an option for that person to decide when they wish to learn about their risk for themselves. For these reasons the guidelines that govern the practise of Family Cancer Clinics recommends genetic testing be offered, for BRCA1/2 gene testing, for persons over 18 years of age.
Many families speak about the meaning of the genetic alteration in a family well before age 18. This can be a good opportunity to understand how a child, adolescent or young adult is feeling about the cancers risks and in doing so can be good opportunity to reassure an adolescent and young adult that their cancer risks are no different to their peers at this young age.
In most cases young women are more likely to attend for gene testing from their mid 20’s as this is when a BRCA1 or BRCA2 woman usually begins a breast cancer screening program. Men usually attend either when they are considering having a family or when they reach their late 30’s-40’s as there are some small increases in cancer risks for men who carry a BRCA1 or BRCA2 gene mutation.
How do I tell my relatives that they may be high risk?
This can be an easy task for some and a harder task for other people. There are a few points to consider which may make it an easier task.
Firstly think about the timing of when and where to share this news. Make sure you the person who is receiving the information can listen to what you are saying and that you have allowed time for them to ask you questions about what it means.
If you worried about how a relative may react to this news, you might consider whether you are the right person to deliver the news or whether another relative might be better to do this or support you in sharing the information with your relative.
Think about and practice what you might say, it can be helpful to say there are things people can do about their cancer risks. If you can give them written information to leave with them this can be helpful for them to read again later.
You might suggest they talk to their local doctor as a first step. You might also suggest family members get information for themselves from a qualified expert at a Family Cancer Clinic. Explain this does not mean they need to be tested (if genetic testing is available) and a Family Cancer Clinic can provide information on how to manage cancer risks without them being tested.
Further tips to consider:
- Genetic information can be hard to understand so avoid medical terminology
- Check to see if they have any questions, offer (if you feel comfortable to do so) for them to phone/email you if they have questions at a later date
- Try not to say things that will be perceived as judgemental
- Only share your personal opinion about what to do if asked
How do I encourage my relatives to get more advice about BRCA1 or BRCA2 gene testing?
It can be helpful to tailor your communication to the individual. Reassure family members that they have been notified out of concern for their own wellbeing and that of any children and there are things they can do to manage the risks involved.
Suggest they talk to their local doctor as a first step, particularly if they have a good relationship with their doctor. You may also suggest family members get information for themselves from a qualified expert at a Family Cancer Clinic. Explain this does not mean they need to be tested and a Family Cancer Clinic can provide information on how to manage cancer risks without them being tested.
Emphasise that whether they wish to know or not know about their potential risk that you will be available to talk again and/or give them contact details of someone who can help. Family Cancer Clinics often have letters that have a summary of the important points to get across and how your relatives can contact them for more support.
Most importantly respect that it is their decision to get tested or not.
Are mutations in BRCA1 and BRCA2 more common in certain racial/ethnic populations than others?
Yes. Research has shown that people of Ashkenazi Jewish descent have a higher chance of certain BRCA1 and BRCA2 mutation than people in the general population. If a person is of Ashkenazi Jewish descent and has a close relative with breast or ovarian cancer it would be worth talking to their local doctor about whether a referral to a Family Cancer Clinic would is warranted.
When will gene testing become available for genes other than BRCA?
There is currently a lot of research into genetic faults that have been linked to a higher risk of breast cancer. It is very likely that over the next few years, genetic testing will change. However when it does there will only some families such testing will be useful for so having an appropriate assessment by a Family Cancer Clinic will be important.
What cancer risks are there for men with BRCA mutations?
Men with a BRCA1 and BRCA2 gene mutation have a slightly increased risk of breast cancer when compared to the average man risk of less than 1% by age 70. This risk is greatest for men with a BRCA2 gene mutation and is overall low (7%) by age 70. However, it is important for men to be aware of any changes or lumps on their chest wall or nipple and report these to a doctor promptly.
Men with a BRCA mutation (especially BRCA2 mutations) also have an increased risk of developing prostate cancer (8-15% by age 70) compared with men who do not have a mutation (6% by age 70). This risk begins to rise from age 40 and if a cancer occurs it can be more aggressive therefore it is worth discussing prostate cancer screening with a doctor.
How do I educate the men in my family and encourage them to get testing?
Many men just do not realise they can inherit BRCA1/2 mutations, there are health risks for them to consider and that they can pass them on to their children. So making sure men in your family are aware of these issues is important.
There are good information sheets for men such as the publication, Understanding genetic tests for men with a family history of breast and ovarian cancer, is also available through the Centre for Genetics Education.
In addition to knowledge, some men don’t find it easy to talk about their health or look after their health. Making sure men have information they can take away with them as well as making it clear how to contact those who can help can be useful in encouraging them to act.
What is Pre-implantation Genetic Diagnosis?
Pre-implantation Genetic Diagnosis (PGD) is a procedure that aims to allow families to have a child without passing on an inherited condition. This involves an embryo being created via in vitro fertilisation (IVF) and being screened for a particular hereditary gene mutation, before being transferred back to the woman with the hope of a pregnancy continuing. Any remaining embryos can be frozen for use in the future. There can be significant costs both associated with the IVF procedures and with the PGD testing itself.
Although this technology is available we understand people can have personal, moral and religious views about the use of such technology and many people choose to have a family and do not use PGD.
Family Cancer Clinics can provide general information about these options and referral on to specialist IVF clinics if couples wish to learn more.
Support and Resources
What support and resources are available?
There are several healthcare professionals who may provide care and support during your journey. These include GPs, specialist nurses, specialist doctors, psychologists and clinical genetic specialists. These professionals can help explain all of the available information regarding risk prevention, surveillance, screening, treatment, and post-treatment options.