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Q&A Genetic Counsellor
Sally Russell - Genetic Counsellor
What can I expect at a genetic counselor appointment?
Genetic counseling is about: Giving you the most up-to-date information about inherited cancers
• Identifying family patterns of cancer which may be inherited
• Addressing the emotional and social impact of the possible risk of developing cancer
• Information about prevention and early detection strategies to maintain health
• Identifying families for whom genetic testing is appropriate
• Exploring the medical, social and emotional implications of genetic testing for the individual and family
How long does it take to receive results of a gene test?
This will vary from state to state in Australia. Testing of the first member within a family (i.e. the person first seen by the Genetics Service and who has had cancer) will take anything from six months to a year. Once a mutation is identified in a family and other non-affected members of the family come forward for predictive testing this will take significantly less time, approximately 1-2 months.
Who will be present when I get the results and what kind of support do I receive after the results?
Generally there will be a clinical geneticist and/or a genetic counselor present when your results are given. The kind of support after the result will be tailored to meet an individual’s needs. This support may well include follow-up phone calls, further consults with members of the clinical genetics service, surveillance update letters, invitations to attend information and support sessions for carriers of BRCA mutations.
What are the options available if I receive a positive result?
At the very least it is wise to see your GP to discuss the result. It is then, in discussion with your GP, a matter of deciding what sort of surveillance/ risk management you wish to pursue and putting these in place.
What are some tips for dealing with a positive result?
Firstly remember there is no ‘right’ or ‘wrong’ way to react to a positive test result and a range of reactions are quite normal. These may include anger, depression, anxiety about future cancers, sadness, as well as relief that you now know your carrier status. It is important to remember that these emotions are likely to be short-lived and that in time life will get back to a feeling of normality again. However whilst you are going through this emotional upheaval and adjustment it is important not to take on extra stresses, be mindful of taking care of yourself and having some ‘treats’, and warn partners/friends that you may be fragile and to ask them for support.
I am worried that my mother/father will feel guilty for passing this gene. How might I deal with this?
The best way to deal with this is to acknowledge to them that you are aware they may be feeling guilty. Then you can reassure them that you are not angry or upset with them for passing on something to you about which they had no knowledge or choice. Reassure them that having the gene is not a reason for not having had you and that you are glad they are your parent!
What are some issues that may arise if there are different gene test results amongst siblings? And how is this best approached. For example if I test negative for a BRCA gene and my sister test positive?
Unfortunately different test results between siblings cause changes in your relationship. It is important to talk openly about how you feel about you and your sibling’s results. We know that some siblings feel guilty that they have tested negative, and are secretly relieved that they don’t have the gene, whilst their sibling may carry the gene. The best thing the non-carrying sibling can do is to offer support to the sibling who does have the gene and to be there for them when they need to go for screening or if they go down the path of risk reducing surgery.
If the test result is positive, how do I go about finding a good doctor and starting surveillance?
One option is to ask your GP for recommendations about, and referral to, a good breast/gynecological specialist. It may be worth committing to “trying out” a few specialists until you find someone who fits with your personality style and information needs. Another option available in some states is to ask for a referral to a specialist clinic which deals specifically with women who carry a BRCA mutation- sort of a one-stop surveillance centre.
How can I bring up the topic of the BRCA gene while dating, and is it important to disclose?
This is a very individual decision and what is right for one woman may not fit comfortably with the next. Carrying a BRCA mutation should not be viewed as a flaw or a stigma and as such does not need to be ‘confessed’. If and when a relationship turns serious this may be an issue that needs to be discussed but along the same lines as, for example, how many children you each want rather than as a serious impediment that needs to be overcome within the relationship.
Do you have any advice for partners of women who carry a BRCA mutation?
It is really important to view your partner as a ‘WOMAN who carries a BRCA mutation’, not as a ‘BRCA mutation carrying woman’!! That is, the BRCA mutation is a small part of who your partner is. However your partner may need extra support and reassurance about her decision making around managing her risk and anxiety and it is important that you are there for her. It is also important that partners understand that the BRCA mutation means that a woman has an increased risk of developing cancer but that it does not mean that she will get cancer.
I have decided to have my breast removed. How can I prepare myself emotionally for the surgery? What issues will I need to consider?
There are many ways to prepare yourself emotionally including:-
• Getting as much information as possible from as many sources as possible about the surgical options, impact of surgery, both physically and emotionally and by being aware of the many levels that surgery can impact on e.g. sexuality, financially, emotionally, practically e.g. bras etc, physically, self-esteem
• talking to other women who have been through the surgery
• visualising how it might feel after the surgery,
• “saying goodbye to your breasts” i.e. marking the brave decision you have made by for example, having a ‘farewell breasts occasion’, or having photos of your breast taken before surgery etc
• Talking through your thoughts and feelings with a genetic counselor or psychologist who specialises in this area
Is PGD the only alternative for couples not wanting to pass on the BRCA gene to their children?
No, there are other options available but the best person to discuss this with is a clinical geneticist who specialises in reproductive options.
What are the implications for children after a mother or father’s BRCA diagnosis?
Children whose mother or father carries a BRCA mutation are at 50% risk of having inherited the mutation. The age at which you start discussing this issue with your children obviously depends on the maturity of the child, stage of development etc. Remember that genetic testing for BRCA genes is not undertaken until the child reaches the age at which they can give consent for testing i.e. they are legally an adult.
How do you explain this to children and what age do you recommend this?
Your genetic counselor can give you some advice about how to explain a familial BRCA mutation to your children. Generally however children tend to sense what is going on in their family and so will have some awareness even before the issue is broached with them. The age at which this is broached with the child depends on their maturity and stage of development. It is generally accepted that small bits of information over time allows a child to adjust to age appropriate knowledge. Information may need to be repeated as a child ages and asks different questions. It is important to remember that the risk of cancer is adult in onset and that you are a role model for your child of living with cancer risk.
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