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Advice if a relative won't be tested

8 REPLIES 8
Member

Re: Advice if a relative won't be tested

Hi. You can now be tested on the NHS if your sister refuses - NICE have just changed the guidelines at the end of June. I've had my blood test last week and am waiting for the results. Similar reasons - no living affected relatives willing to be tested and strong family history.
It isn't an easy decision though, there's a much higher risk of an indeterminate result and it's much harder to interpret a negative result as well, so you need to talk through all the possibilities with a genetics councellor before deciding. But the option is available if it's right for you.
Good luck and all the best
Asharia
Member

Re: Advice if a relative won't be tested

Hi, Trish here my sister also refused to be tested and died at young age as did my mother. I have since been diagnosed and one of the first things I did was get genetically tested to see if I had the gene so that other family members could be tested. Unfortunately, it came back inconclusive,however, because of this my daughter still gets to seea breast specialist every six months and a yearly MRI, as do my nieces. I wish I had tried to convince my sister more as it is simply a matter of a blood test. I think she didn't want her daughter living in fear, however, I did anyway. I think there is so much help out there if you know u have the gene and they are going to offer my daughter advice and screening all through her life now. However, having said that the large majority of those diagnosed with breast cancer do not have a family member with it.
Member

Re: Advice if a relative won't be tested

Hi Maggie
yes that's right where everybody on the family has died unfortunately no testing is available.
as I said the testing is a two part procedure. The first part is the full mutation analysis of an affected individual this us equivalent to looking through a book to see if a spelling mistake can be found. The second part is predictive which is only available if an actual mutation has been found. Where they can go directly tthat's part of the DNA where the change occurs and see if other family members have the same change including healthy individuals. Using the book analogy if they don't get a change on the first bit where they test the affected person they won't know the page, line, and word to look at on the unaffected DNA.

this is what happens in the NHS I think you can get tested privately for around £3000. But a neg result won't tell you whether you have a change in your family which you just haven't inherited or if no actual mutation exists in your family. Eg in lexis situation her gran may be in the 10% off people with breast and ovarian can who don't have a gene mutation. Therefore you still don't know and your risk wouldn't change.
mhope that makes sense
mlulu
Highlighted
Member

Re: Advice if a relative won't be tested

Hi Lexie, my apologies if i gave false information. I was told that once you could prove family history eg what type of cancer, what relationship to you, what age of diagnosis, then you were considered for your own testing.... as deemed your own personal risk. The fact your sister refuses does affect your personal risk which is a huge worry to those who want to be tested. I'd be interested to know what happens if you have history of relatives that have passed, does the same rule apply?
Good luck to you
Maggie x
Member

Re: Advice if a relative won't be tested

the first principle of genetic testing is you need to test somebody who has had cancer, so unfortunately maggie is incorrect in her assumption.

Lexie i take it granny with breast and ovarian is no longer alive as she would be the best person to test. its highly likely that she would carry a gene mutation.... think in somebody with breast and ov ca its about 90% chance of carrying a gene....

so it would seem likely given that, that your sisters early BC would also be genetic, but by no means a certainty.... even in genetic families you will still get cases of sporadic cancer. and although early cancer is an indicator of a gene mutation its not a strong link and would prob equate to something like a 5% chance of it being genetic compared to your granny its a long shot. but when you have both gran and sister in the family it makes it more likely.

if your sister is unwilling to be tested this doesnt mean you wont get any support.... you should still attend your referral to genetic to be enrolled in an early screeing programme yourself.... this is annual mammos between age 40 and 50..... which is the same as you would be getting even if you had a gene mutation.... you may also be considered high risk and be offered annual breast mri to age 50 (although this is dependant on your health board as its a funding issue). high risk families would then have more regular screening to age 60 or even longer.

your sister may well be trying to deal with the issues surrounding her diagnosis and finding out she has a gene mutation may be too much for her at the moment but she may come round to it in the future.... some people are just scared of what it might mean.

perhaps you could suggest she talks to the genetics team about the implications without any pressure to get tested just to find out more about it.

i work in this kind of area and its common to come across family members who do not want to know.... its a very personal decision and very emotive... some people feel real guilt, some worry about the consequesnces or having to make decisions if they know about it, and some people are busy dealing with the cancer they DO HAVE and not the one they maybe get in the future.

the way genes work is they get passed from parent to child and if your father was a BRCA carrier you would have a 1 in 2 chance of inheriting it... either you would or your wouldnt... its not a certainty that if your sister has a gene that you would have it too. if your sister did consent to testing they could then look for the same chnage in you, however if no gene change was found in your sister there would be nothing to look for in you but you would still continue with your enhanced screening.

give her some time to get through her treatment and in the meantime get referred and rememebr if you notice any changes get them checked out.

take care

lulu x
Member

Re: Advice if a relative won't be tested

Maggie I don't think that's right, my sister was referred for genetic counselling after I was diagnosed, they said we'd be considered high risk, so she'll be offered early screening and suchlike, but they won't test her unless I take the test and am shown to have a BRCA mutation.

Lexie, if you ask to be referred to the genetics team they should be able to talk you through everything, it may be that once your sister has had time to process everything and has completed her chemo she'll change her mind about being tested herself, as Maggie says it's a very overwhelming time when you've been diagnosed and are going through active treatment.

Jo x
Member

Re: Advice if a relative won't be tested

Hi Lexie, I'm not a 100% sure but the fact your younger sister has been diagnosed and other relatives have also been diagnosed means you are eligible for testing in your own right without your sister being tested. Just because you have cancer doesn't mean you have BRCA gene, in the same vein just because you don't have cancer doesn't mean you don't have it. I think you have enough family history for you and your other sister to be tested. Paternal cases are just as important to your chances of getting cancer as much as maternal ones were for many years, so this is taken into consideration. I hope you get the test, it will give you choices. Your younger sister is probably overwhelmed with her own diagnosis at present and therefore cannot engaged in further tests/trials...

Good luck to you and your family at this most stressful time.

Maggie x
Member

Re: Advice if a relative won't be tested

Hi Lexie

Whilst you await replies you may find it useful to call our helpline to talk your queries over. Lines are open 9-5 weekdays and 10-2 Saturdays on 0808 800 6000

Take care

Lucy

Member

Advice if a relative won't be tested

Hello,
I'm wondering if anyone can offer advice...
My younger sister was diagnosed with breast cancer at the age of 37 and is currently undergoing chemotherapy. My grandmother had both breast and ovarian cancer. My younger sister has been offered genetic testing because she is considered to be at high risk of having a BRCA mutation. However, she does not want to be tested. My other sister and I (age 46 and 47) would like to know if we have the BRCA mutation - but how can we know this if my younger sister won't be tested first?
Note that if we have a genetic mutation it would be on my father's side of the family. There are no other living relatives with cancer, but my father has no sisters and no female cousins.
I have an appointment with the genetics clinics at the end of June, but I am expecting that they will tell me that I can't be tested unless my sister agrees first.
Any help or advice? Much appreciated!