genetic testing: do I get tested?

Hi

My mum died of ovarian cancer at 35. As i have no other close female relatives, when I hit my 30s I was offered annual blood and ultrasound screening. My new GP surgery want to stop this and have referred me to a genetesist to discuss ebing tested for the BRCA genes. I don't know what to do, I havn't had children yet and am scared about the impact of this on my life if I have the test and it shows I have the gene mutation.

Any thoughts would be really welome,

Scraggy.

8 Replies

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  • This must be so worrying for you, my first thought is why has your GP stopped the CA125 and ultrasound tests? It seems only reasonable. My sister gets annual check-ups, even though I hadn't got any genetic link proven. I had ovarian cancer 8 years ago, her GP offered it straight away. Maybe go back to your GP and ask why....if it's financial, try writing to your MP.

    However, if your GP has made a geneticist referral maybe they could put you in touch with a counsellor first about the pluses and minuses of genetic testing, to help you to make up your mind.

    Good Luck

    Wendy x

  • Thanks Wendy. I think it may be partly financial. She also said that maybe it was unneccesary stress having screening every year if there was no need. I think I will just have to see what the gentecist says. It is just weird because the GP said that waiting for the referral would give me time to think about it and at the time I thought that was odd. A couple of days later and I can't think about much else, sure my brain will calm down soon. This is all coumpounded because we are planning to try and start a family this year and I don't know if I should be considering implications. Lots of moaning I apologice when lots of you are dealing with cancer in the here and nowxxx.

  • And I apologise for the spelling!!

  • Hi Scraggy,

    Its a really difficult situation, and things have changed quite a bit over the past 18 months or so, which might be why your GP has changed her mind.

    Firstly its important to realize that screening for OC hasn't been proven yet. Theres a big study which will be reporting in 2013 which should tell us definitely if screening can save womens lives

    The next thing is that IF your Mum had a faulty gene, then you have a 50% chance of having it, but of all the ovarian cancers only a small minority - 7% are due to a faulty gene.

    It used to be that you couldn't be tested for the faulty gene unless your Mum was, but just recently some geneticists have started testing relatives without the test being done on the person who has the cancer, so it might be that your GP has had new information and wants you to have this option.

    The last thing is that there are some new guidelines out from NICE which may have impacted on her decision.

    Its probably a good idea, seeing the geneticist now as it means you have the chance to chat through any issues to do with starting a family as well.

    Good luck with everything, and do call the helpline if you want to chat with one of the nurses.

  • Thanks Louise. I really appreciate it.

  • Hi Scraggy

    I've just had genetic screening. They took a comprehensive history of cancer over 3 generations of my family, looked at the ages, types of cancer and outcomes. They explained that cancer affects 1 in 3 of the population, and around 1 in 50 will contract ovarian cancer. Their professional judgment was my cancer was likely to be a random event. For my family it means they are at no more risk than the average, it also means that we don't have to worry about faulty genes. A good outcome. It would also have been a good outcome if they had have done the test as we would have known that screening would be of benefit. The whole experience was very supportive, the Doctor patiently and with great care explained the situation, and in addition addressed my concerns about the risks to my daughter. They have my DNA in store and will review it again in 2 years in case there are any developments in testing.

  • Hi Scraggy. I read your posting some days ago but but was so distressed that I couldn't reply. Four years after having had surgery and radiotherapy for breast cancer I received a letter from the Royal Marsden to inform me that a relative had been diagnosed with the BRCA1 gene and therefore i was at risk from Breast and Ovarian cancer. To cut a long story short, I was found to have this same gene and immediately opted for surgery to remove the risk which was high.

    My surgery was delayed for administrative and health reasons but eventually I had a double mastectomy and reconstruction but was found to have Stage 3, grade 3 ovarian cancer by the time I saw my surgeon for removal of my ovaries. This subject is incredibly difficult for me to deal with as my letter from the Royal Marsden advised an annual ultrasound and CA125 test up until the age of 70. I had already decided on removal of the ovaries but while awaiting surgery at no time was I offered any screening even though my Gynaelogist was made aware of the delays for my surgery. To make it worse I was having twice yearly check-ups by the hospital after my breast cancer. I had my final appointment in Dec '08 (4 years and 7 months after my breast cancer) and was told that as I had had surgery to remove my breasts (June '08) and was planning on seeing the Gynae surgeon in the new year to have my ovaries removed that I would be discharged. Again I was given no blood tests or scans. Just over two months later on seeing my Consultant Gynaecologist I was found to have Advanced Ovarian Cancer.

    I have had major surgery to try and remove the cancer which had spread beyond the ovaries. I had chemotherapy ( with really bad side-effects)following the surgery in 2009 and again last year when the cancer returned and am now on two monthly check-ups.

    I have, since being diagnosed with this cancer, been trying to get some definate answers regarding screening as I have three daughters (two who have already been diagnosed with this gene). I feel cheated! Maybe, just maybe if I had had the screening my cancer could have been caught at an earlier stage and my prognosis could be different. Ovarian cancer is notoriously difficult to diagnose at an early stage. I an constantly reading conflicting reports regarding screening BUT what I do know is that if I had just been given that screening then maybe, just maybe, they could have found my cancer at an early stage and my prognosis could have been so much better.

    I am currently fighting a long hard and very emotional battle trying to get answers for this screening just so I know my daughters will be given a better chance.

    So in answer to your question. Should you have genetic testing? As I have said to my daughters, this is entirely a personal decision and only one that you can decide. If the result comes back positive then you need to know how to deal with this and how it is going to affect your life. Having had a positive result, in my opinion, you should definately be given some form of screening because anything is better than CANCER.

  • Have no idea why the silly face appeared in my answer but the date should have read June'08.

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