Genetic testing - yes or no?

Hi everyone, I have not posted a blog for a long time, but I read everyone elses every day. I am currently undergoing 4th line chemo (carboplatin and taxol again) having being diagnosed with OC in April 2011. I have 2 daughters, both in their 30s, and I am naturally concerned that my having OC may mean they will be predisposed to the disease too. I understand that genetic tests could show whether either of both of my daughters carry mutated genes BRCA1 or BRCA2. I would like them to have these tests done, as I reckon that if there is a danger of them having OC or breast cancer, then perhaps blood tests and scans yearly would pick up something before, like me, the disease is too advanced? They are of course adults and can make their own decisions about whether or not to go down that route. I just wondered if any of you lovely ladies have faced this dilemma on whether or not to urge your daughters to be tested?

Susie

30 Replies

oldestnewest
  • Hi Susie,

    I am sure there are a lot of people on here that have been through this testing and maybe if you posted your question up on the "questions " thread as well... you might get a better response I am sorry I am not much help on this..you could give the Ovacome helpline a ring tomorrow and speak to Ruth Payne tel 0845 371 0554 best wishes love x G x

  • Hi Susie,

    Yes, our family went down this route last year.

    I was tested first - the first test costs the NHS about £500. Searching for the faulty gene is like searching for a spelling error in a huge library of books. They need to find the book, the chapter, the page number and at last the word spelt wrongly.

    Once they have found the error from the first family test (which will be yours) then each and every family member who is tested thereafter is much easier and much quicker. It took 4 months to find results from my test, but each daughters only took 6- 8 weeks.

    All other family tests taken from your own family number will cost the NHS just £30.

    If you don`t have the faulty gene Susie then neither of your daughters will have, it has to be carried down the maternal blood line.

    Unfurtunatelly both of my daughter do have the faulty braca one gene, Lisa is already 31 and has had her first MRI breast scan. Amy is 28 and they won`t start the screening on her until she reaches 30 (why I have no idea, but there we go), both daughters have already been offererd breast surgery anytime from now and hysterectomy as soon as they have finished having a family.

    They have not been offered scans on their ovaries or CA 125 blood testing for obvious reasons. However, they have both been told that when they are ready they can have ovaries along with hysterectomy removed by key hole surgery, they will be left with 1/2 inch scar, job sorted. Obviously they would need to think about this because they would go straight through the menopause which as us ladies are aware brings another collection of problems, better that than cancer so this is what they have both decided to do.

    As for the breast surgery, this is a tough one, at the moment they have both decided on the

    yearly screening.

  • Hi Susie,

    I was diagnosed stage 1V in May this year. I too have 2 daughters in their early 30's and asked about screening for them. I was told that because there was no history of OC or breast cancer in my family it wouldn't be considered. If there is more than one member of the family then they would have been.

    I am not entirely happy about this, but like you say at their age the can decide for themselves. I am tempted to keep on asking as it is a worry.

    Best wishes

    Chris xx

  • Hi Chris,

    This attitude from the NHS is such a worry - you have OV cancer, so your daughters have one family member with a history of OV cancer.

    I was told exactly the same - because I only had the one family member with a history of OV caner (in her early 40`s) this was not considered a thret to myself or my daughters.

    Right up to the point of having my own ultra sound scan, I was being flatly refussed testing or preventative surgery. !0 mins later the consultant discovered I already had OV cancer.

    Then everyones attitude changed and I was offered genetic testing.

    The result was a shock - I was positve with the faulkty braca one mutation.

    Both of my daughters were tested and they both sadly have the faulty braca 0ne as well.

    So Susie, please take my story along to your consultant and beg for the genetic testing to be done on yourself, this test will cost the NHS £500, I`d pay for that if I had to, surely they won`t be able to refuse if you pay privately for it.

    Let us know how you get on

    All the very best from Tina xxx

  • Dear Susie

    Just to reassure you, you don't need your daughters to under genetic testing. You could go through this and if you test negative there's no need to worry about your daughters having the test.

    My daughter saw her GP because she was worried. My sister has had breast cancer and 2 other cancers over the last 35 years (still fit as a fiddle which is encouraging for us) - and my Dad had prostrate cancer. My daughter's GP recommended genetic testing this started the whole thing off. They were so kind. The lady spent an hour with us talking about the process and how each of us felt about having testing and how we would feel if it were positive and what we would do about it. It was a very positive experience for us all.

    I was given a blood test referral - no big deal for us as we're used to bloods being taken. Three test tubes were filled, and it took 3 months for the BRAC tests to be done. As it happens I am negative so there was no need to test my daughters.

    I can only say if it's an option please go ahead. it really isn't a problem, and in fact if you have the counselling session beforehand it can be very helpful and positive for you and your daughters to talk about the worries of cancer. My GP said he was 99% sure I wouldn't test positive as I hadn't developed cancer until the age of late fifties. He was right.

    The upshot of having the genetic testing is that both my daughters will receive the current test for Ovarian Cancer from the age of 40 years. That's not a bad outcome and a real advantage.

    I hope this rather long answer helps you decide what's best for you and for your daughters.

    If I can be of any further help please let me know. xx Annie

  • This information is so useful Annie.... thank you love x G x

  • Hi Annie

    Very interesting and reassuring to me! I'm sorry to be thick here, but my daughters asked for a referral 2 weeks ago and has heard nothing yet, is that normal? Also should I also ask my GP for a referral or will I be picked up naturally? Sorry for the questions, but I find all this a bit of a minefield.

    Happy to hear you tested negative!

    Love Linda xx

  • Dear Linda

    My daughter who lives in the Welsh Valleys asked for the referral as GPs in this part of the world seem to refer anyone to anything. I'm sure sure my GP would have agreed because he told me it wouldn't be likely as I'd developed the cancer at such an age.

    So what I would suggest is you discuss which GP is the most likely to say yes and try them. You only need one referral and some evidence of breast, prostrate or ovarian cancer in the immediate family.

    Hope you're successful with this. Let me know how you get on. xxx Annie

  • Hi Annie

    Thanks for the help, perhaps I should move to Wales...ooh don't tempt me!

    I spoke to the practise manager today who resent the original letter by fax as Guy's never received it, so probably won't hear before Christmas. As my mum died from OC and her sister from breast cancer I will be able to provide evidence,

    Will keep you posted xxx

  • Hi Linda,

    Don`t worry Linda you may ask anything at all.

    These referrals do take time and 2 weeks is a little premature to be concerned about hearing nothing as yet.

    It is better if you yourself is tested first, because your daughters are only at risk of this gene mutation if you have it (although it can be carried by the father).

    Check out which side you have the family history, if it is your side then without a doubt it is easier to test you first. Your test will cost the NHS £500 but each family test therafter is much much less.

    If you do not have the gene then the chance is neither of your daughters will do - unless there is a history on their fathers side.

    If you do have the gene then both of your daughters can be tested. Either one or neither or both could be positive.

    Each one of you will go through counselling before you decide to take the test.

    But its absolutelly nothing to worry about, you are not even aware that you are actually having counselling, its not like other types of counselling.

    Any more questions you may message me privately or we can open a blog.

    Good luck from Tina xx

  • Hi Tina

    Thanks for the reply. Although 2 weeks isn't long I was concerned that maybe my GP hadn't done it as he's a bit remiss. I was obviously right as Guy's hadn't received it at least I know they have now as the practise manager faxed it to them.

    As my mum died from OC 10 years ago and her sister from breast cancer I am more than a little concerned for my daughters. I am nervous of starting this but feel for their sakes it is totally necessary. I shall no doubt have questions I want to ask so thank you for offering. Will let you know when I hear anything.

    Love Linda xx

  • Best of luck Linda,

    I hope all goes well for you all, no question or worry is too small to share.

    Try not to worry about this too much - if you do have the faulty brac mutation then is the time to think about the next step.

    I know several ladies now who went down the genetic route and worked themselves into a stooper, they didn`t have the faulty gene. So the rest of the family didn`t need to be tested.

    I hope this is the same for you but if its not mi darling, think of it as another positive result, only different.

    I do think that once we have a family history of cancers we will always worry whether we have the faulty gene or we don`t.

    But if we know that we do have it, we can at least think about our options and focuss on doing the right thing for us as individuals, those who do not have the faulty gene don`t have that chance.

    Because of this I kind of think myself a little luckier if that makes sence.

    take care love from tina xxx

  • Thank you Tina, that means a lot to me. I am not really worrying about it although I'm sure I will when it comes to it. I have resigned myself to the fact I have the faulty gene. I don't know why just can't help thinking I have it. If I don't then it will be a bonus, and my daughters won't have to be tested.

    I believe there will other options open to me if I have it, as as you say. look at the positive. At the end of the day I have no choice over this so ho hum pigs bum lol! Don't want to appear to be making light of it but no good getting upset at this point. I will feel terrible if one of my daughters has it but at least they will be kept a close eye on in the future unlike I was.

    Take care

    Love Linda xx

  • Hi Linda, yes this is very true you have the right attitude, I don`t belive in burrying ones head under the pillow then risk siffocation if you get my drift but I do know that many people do. I think we both owed it to our daughters to go for the test, then at least they have choices should you have it.

    My brother was going through colon cancer the same time as me with the 2c OV cancer. He didn`t have the faulty gene but me and both of my daughters have. Sadly we did lose my brother earlier this year, at the end of the day none of us know when or if this disease will strike with or without the faulty gene. And this is the way I have to look at it, at least we have options and that must put us in kind of a better place.

    Take care and God bless with a hug and a smile from Tina xxxx

  • Hi Susie

    The genetics people go on a points system before doing tests. These basically are that there have to be a certain number of close relatives with oc, breast or prostate cancer to qualify, as one person is considered as unlikely to be a genetic risk

    I was 42 when diagnosed, my Mum had a pre-cancerous lump removed from her breast, and her brother has prostate cancer. All this gave me enough "points" to be tested. My sister could not be tested unless I proved to have the mutated genes, same goes for other members of the family(like both our daughters). We were lucky, I proved to have no mutations, so my sister was not eligible for testing. We are both entitled to yearly mammograms from age 40 to 50 due to the family history. I was told that if I carried the gene, my daughter could be tested when she was 35, and if she had the gene, she may be advised to have her ovaries removed when she was 40. So it is quite a major decision to take. I felt I had no choice, I could be saving my sister, daughter, niece, cousins etc a lot of worry by having the test, which fortunately was the case!

    Chris

  • Again.. very good information Chris..... thank you love x G x

  • The real worry here Chris is,

    I did not cover the criteria because I only had my mother history of OV cancer. I was not taken seriously untiol it was too late, I already had the cancer AND still no one thought it could be genetically linked, I was 52 when I was diagnosed I`m not saure if thats classed as young or not, but once I was eventually offered testing I shocked the system, I and both of my daughters have the brac one mutation.

    I would urge any lady who is worried to enquire if they can have the test privately, the first family person tested costs the NHS £500. if that test is negative then no more family members will be tested. However if it is positve then other family memebers will be tested on your family number, this costs the NHS as little as £30 for each person.

    It would hardly break the bank. knowing what I know now I would have willingly paid private if it could have prevented me from this awful disease.

  • This system is so WRONG, the test doesn`t cost all that much, we should be offered the tests privately if we ask.

    I did not have enough points, I was turned down flat for testing and preventative surgary or screening. All the time I was running at an 80% risk of BC and 50% risk of OV cancer, because all along I did not only have the faulty braca one mutation as both of my daughters do, there is also a risk that my grandchildren will but we can`t even begin to worry about the children at this stage.

    It wasn`t until I already had the cancer, the specialits wanted to refere me to genetics.

    My cancer could have been avoided if they had allowed me to pay the £500 for the test.

  • If you click on to the Ovacome blog (above....(on the grey bar under the green bar) you will see an Ovacome write up and information about this xx

  • I asked about genetic testing when I was first diagnosed in 2009 but told that, as no 1st degree female relative had either breast or ovarian cancer I was not eligible. I have a daughter in her 40's and so does my sister. Then my sister got breast cancer last year and the fact that we do not know the cause of death for our maternal grandmother who died in her late 30's after an abdominal op. As our family comes from Belfast and suggesting cancer to our uncle produced an extreme negative reaction we could not get more information.

    Once Liz was diagnosed I asked again and, as two uncles also had cancer, I was tested last year and heard recently that I do not carry the mutations. A big relief as I discovered in the process that men can carry the defective genes and, though it does not affect their incidence of cancer they can pass it on to daughters. My son has two boys so I was concerned for them.

    My sis has two sons and a daughter, 4 grandsons and 4 granddaughters. She has not asked for counselling or testing. I found the genetic testing fascinating. The consultant was excellent and I would have had counselling had I needed it.

    I am now taking part in several research projects into possible genetic links with other cancers and living with cancer in old age.

    Off today to London to attend tomorrow's conference "Britain against Cancer" at Central Hall Westminster! Anyone else going?

    M

  • Hi Susie

    I was diagnosed with PPC in December 2011 and a recurrence in September 2012. My mother died from OC in 2002, her sister had breast cancer. I discussed with both of my daughters who are in their 20's genetic testing (my oncologist actually recommended I did not do it) and we all decided that at that time we did not want to go ahead. Since the recurrence we have changed our minds and my eldest daughter (who suffers from polycystic ovaries) has asked her GP for a referral for the counselling, at present my youngest daughter is still undecided. I feel quite sure I will test positive but hope and pray my daughters won't.

    Personally, I feel that it is up to each individual to decide whether or not to be tested and I would never try to talk either of my daughters to do it if they didn't want to. I would think that as you have no previous history your daughters are safe, but probably a good idea to discuss with your doctor.

    I've found the other comments really interesting, as at the moment we are waiting to hear. It's good to know you are treated so well, as I must admit to feeling very nervous about it.

    Take care.

    Love Linda xx

  • Hi Susie,

    As others have said genetic testing is usually carried out when the family history suggests a possible hereditary link to cancer. In my case I was diagnosed with ovarian cancer in March. My mother had ovarian cancer ten years ago. When I was diagnosed I asked for genetic testing as I have four sisters, nieces and female cousins. I have recently found out I have a faulty BRCA1 gene, I received the information on the same day as my consultant told me I am in remission from OC so it was a rather strange day to say the least. I am now in a position where I am told I have up to 80% chance of developing breast cancer, and have been advised to consider double mastectomy. I am at the stage where I am researching as much as possible in order to make my decision, and have asked to see a specialist in this field, my concern is that there is no family history of breast cancer in my family, yet I am informed that I am high risk! My family have been very good, my siblings' view is that it is better to know and possibly take preventative action, and they are currently going through the process of requesting tests,and this is very much an individual decision for each of them.

    Although for me I think it was he right decision to request testing, it is very much a Pandora's box, and another part of me thinks I would rather not know, but that's just me wanting to bury my head in the sand!

    Best wishes

    Jan x

  • Hi Jan,

    I am in the exact same situation as you are right now, I had decided to have the double breast mastectomy but have been told by the Addenbrookes breast clinic that they won`t even consider it until I have had 5 years remission.

    It is just 2 years ago I had my 1st chemotherapy after surgery, I am not sure if that 5 years is from after the treatment or surgery, anyhow it feels like such a long time to wait.

    will I develop breast cancer as I wait? Who knows.

    I already had one scare when I had to have some dodgy looking cells drilled out this summer. The cells were borderline, that mammograme most probably saved me from developing breast cancer and for that I have to be truly thankful.

    Love T Xxx

  • Hi Tina,

    Thanks for the reply, I hadn't realised they recommend waiting so long before surgery, the genetic specialist I saw just said I would have to wait until I was over the OC before having more surgery, she indicated this would be a few months, not years! I have now asked to see another specialist as I have more questions than answers!! The genetic counsellor I saw did say that my family history is unusual as there is no breast cancer, but she still insisted I am at high risk, though my feeling is that I am not so sure. I am part of a large family with a number of females, you would have thought with such high risk and the likelihood of 50% of my female relatives having the faulty gene that it would have shown in others ? It appears that you have a similar family history , you have obviously been told you have very high risk if you are considering surgery? I just think that there is a lot they still don't know about the genetics and risks so I am being very cautious for now, and as I said seeking more answers. I admire you for having made the decision to have surgery, It's just a shame you now have to wait and worry, I will be interested to hear how you get on,

    Love

    Jan x

  • Hi Jan,

    Yer, my genetic counsellor told me the same, I was so disapointed when the breast clinic consultant told me I had to be cancer clear for 5 years before they would consider it. In the mentime I have yearly mamogrammes.

    I also have no family history of breast cancer, this is why I was so shocked that my risk is 85%, doesn`t make sence does it?

    Another thing that really confusses me is my risk of OV re-ocurrance runs at 50%, (lower than the breast cancer risk).

    To be honest I don`t think they want to spend all that money preventing Breast cancer when the OV could return.

    For the moment, I will try to forget about all these if`s buts and maybe`s, I tell myself everyday, that more people who get this disease may have never worried about it. At least we have the chance to seen yearly and if we do have any worry`s at any time we will be heard. That says a lot.

    Love from Tina xxxx

  • Hi Susie I have just had the results of the braca 1 and 2 test and I don't have the mutated gene. The reason I went through with the test is that I have a younger sister ant a daughter who is 23. I have also lost an Auntie and a Great Auntie to OC, I also had OC 12 months ago and had 6 chemo sessions of Carboplatin and taxol, so given my family history and my having OC I discussed it with my daughter and sister and they supported me, because in the end I was doing it not for me as I,ve had the disease but for them, so they don't have to go through what I went through. so talk it through with your daughters, because if at the end of the day you do have the mutated gene it doesn't mean to say they will have it, it just means that they will be able to be monitored more closely. the process isn't a quick process it's taken me 8 months to get the results. I was under the Birmingham Women's Hospital, and before I had the blood test I had to see a genetic doctor and prove with a death certificate that someone in my family had died with the disease. Then I had to wait 3 months for the test results. Interestingly when the doctor told me that I hadn't got the mutated gene, she said that they have identified another mutated gene that may make you more predisposed to OC and that the test for this will be available in another 6 months and if I was interested I could have this test in 6 months, I'm not sure what to do at this moment, has anybody else heard of this?

    Hope you and your daughters can sort this out, just talk to them and see how they feel about knowing, to me knowledge is power and the more power we have to fight this the better.

    Luv Didy

  • Hi! linda.I am una from belfast.I was diaognosed with 0.c. 3yrs. this dec. and i am just finished 3rd. line chemo 7wk. ago.I went to my g.p. who referred me to genetics dept. in local hospital.They tested me for the faulty gene but thank god i didnt carry it.My mother had breast cancer but she was 70 when she was diaognosed so they said that wasnt a factor.I have 3 daughtersnaged now 36 to 32.I never had to pay anything as it was all done through n.h.s .Even though i did not carry gene my cancer is very maliginant.I was worried for my daughters and expressed this to the genetist.He then agreed to test my daughters on a yearly basis.They dont get mammagrams until they are 35 but get breast checks at hospital every 6mths. and smears and ovarian scans yearly.this is a great weight of my mind so i know how you must feel.hope this helps you in some small way.xx

  • Hi thank you to everyone who responded to my blog re genetic testing. I have found all your comments very helpful. I think the fact that I have no known close relattives with breast or ovarian cancer would make the liklihood of my having the faulty BRCA gene very small, however I will ask advice from my consultant, GP and nurse specialist.

    kind regards to you all.

    Susie

  • Hi thank you to everyone who responded to my blog re genetic testing. I have found all your comments very helpful. I think the fact that I have no known close relattives with breast or ovarian cancer would make the liklihood of my having the faulty BRCA gene very small, however I will ask advice from my consultant, GP and nurse specialist.

    kind regards to you all.

    Susie

  • I'm a bit concerned by some of this, my daughter is 14 and I was hoping she will be routinely tested, my cousin whose Mum died from OC aged 48 has screening yet it was her only family member. Was told today will have mamogram as routine but no CA125 tests as mine were normal pre-op. There is no cancer history nd although GP said my daughter will be routinely tested not sure I believe her now.

    LA xx

You may also like...