Genetic screening for Cancer - ethics and reality.

[CountessDracula]

My mother in law has just had a malignant tumor removed from her bowel for the second time (she was 42 the first time, then nothing until now and she is nearly 70).

Her Oncologist has suggested that it is a rogue gene and that her children (ie my dh and his sister) along with her should be screened.

My dh is a terrible hypochondriac and is already convinced that he has bowel cancer waiting to happen (despite repeated colonoscopies etc). Should he go for it and then if he doesn't have the gene he can relax? If he does go for it and he does have the gene, what then?

I do appreciate that it is all in the aid of research, but I don't want my dh's life ruined by this. He is not good at coping with illness, I just think that maybe it's best not to know. But on the other hand, if he was clear...

And where does it stop? Do I get DD tested?

And what about the insurance implications? Will he be turned down from his private healthcare? He would have to disclose a positive result. Even if they don't turn him down, they may change policies in the future to exclude genetic pre-dispositions.

Oh it's all so difficult. Your opinions are welcomed.

Countess Dracula, I just had a half on/ half off board conversation with tamum (who does genetics) about this. She said it was ok to write about what we emailed about.

So, briefly: my mom, her father and his mother all have had colon cancer (in their fifties: my mom is fine, the other two died of it). All of my aunts (my mom's sisters) have polyps and my aunt told me this weekend that there is no doubt it's genetic. (Just fyi, I was a little confused about my family history before, so this is the correct version.) So, I have a 50/50 chance of having the gene. My doctor is great and is willing to start me now on the high risk screening and I'll do that soon (I'm 32).

Here's what tamum told me (this is from an email and I did explicitly ask if the info was ok to post -- she's very nice!):

"So, to answer your real point- having the genetic test and finding you had the gene wouldn't, as you suspect, really change anything. They would still do colonoscopies, and as you say, your doctor has already offered (which is good). BUT, if you had the test and you DON'T carry the mutant gene (assuming the rest of your family with polyps do carry it, i.e. the geneticists have tested for the right gene), then you can pretty much sit back and relax, and not have to have any further investigations. That's really what I was trying to say- because you believe that you're going to get it anyway, you can't get any worse news than that from a genetic test, but you stand a good chance of getting really great news."

My decision is to not have the test because it would involve my family -- not only asking my mom to be tested, but, perhaps, making the rest of my family (my sister, 10 cousins and their families) wonder if they should be tested and I just really don't want to do that. Also, I'm not sure that I wouldn't still worry if they didn't find the gene. I'm not a hypochondriac at all, either. Really.

Then there's the insurance question and losing my insurance at some point in the future for that scares the bejeebers out of me.

Anyway, that is my decision -- feel free to ask anything if you'd like.

May I just start by saying that JJ is very nice too?

Anyway, Countess, my personal feeling is that your MIL's oncologist is being a bit sweeping in his suggestion, unless there's a whole load of other family history there. Is he suggesting it's genetic purely because your MIL has had 2 tumors? If so, it really sounds very premature. Given that there's about a 1/18 risk of anyone developing colon cancer, it's hardly outside the bounds of possibility for it to have happened to your MIL twice. Has she had lots of polyps in the intervening years? If not, and there are no other close family with colon tumors, it doesn't really sound very likely to be genetic to me. What gene are they going to test anyway? It sounds like a needle in a haystack job with only one affected family member. Sorry, I sound like I'm ranting at you, and I don't mean to! I can't imagine many insurance agencies would take this as a strong family history, but you're right to be concerned about the implications of testing.

If you or your dh wants to take this any further then you need to see a geneticist for counselling, one who knows about colon cancer. I don't honestly thing the oncologist sounds as though he knows what he's talking about (based on the information in your post). I certainly think it's too soon to worry. The only thing to bear in mind, as JJ knows only too well, is that you need to balance up the desire to remain in blissful ignorance against the fact that colon cancer can be screened for by colonoscopies, but if your dh is already having them then he should be fine.

Sorry this has all got so rambling!

Thanks guys. Will show to dh. Mumsnet is a wonderful place!

Hi CD, you might have seen a thread a couple of weeks ago where I asked for (and got thanks tamum et al) advice about this subject. Haven't worked out how to link inside MN yet, but /i think its under health...

We have a lot more family members affected (nearly a dozen with one kind of C or another, mostly breast and/or colon), and as a family have decided to have genetic tests, these are being done through the NHS but we are paying for them. The blood tests etc have just started, so we are very early in the process, and not in a position to offer advice, however, this is how we reached our decision:
Look at the numbers involved - as Tamum has suggested, two incidences is horrible for your MIL but probably doesn't indicate a much higher than normal rate?
Look at the outcomes, and what will happen.
For us, this was -

Find a gene that indicates positive and go onto a more assertive progrmme - watching more carefully for signs and having regular checkups, minimising other risks etc. For the illnesses we were lookkn at I felt catching it early gave a very high chance of survival. Our decision may have been different if this was not the case.

Or Don't find a gene and stop worrying about it

Or Don't do the test, not know, and in our case, still worry - we were worried but ignoring it already. Not the most sensible for us, but others may deal with it differently.

Your 'possible outcomes' will be different from mine, I'm sure.

As for your DD, well I think the next generation was at our forethoughts when we decided to go for the tests, hoping that medical technology will develop in their lifetime, and that the 'information' we provide will help them in one way or another... remember the numbers of incidences in my family seem bigger than yours though - I think the total being tested is about 30. Our DD has not been tested - at the moment I don't see the point until we get my test results back... but tamum will probably know better!

Our biggest concern afer thinking about how we would cope with the results was how the family dynamics be affected by differing results., but at the moment, with so much grief around, I tyhink we are all finding it a cathartic process.

Good luck to you both.

Waterbaby, I need to apologize for completely freaking out on that thread. It wasn't something I had thought of before... Hope all goes well for you and your family.

My mum, aunt, 2 cousins, my mum's aunt and my mum's cousin have all suffered from breast cancer, so we have a fairly strong family history.

My DH suggested going for the Genetic testing but I'm not.

My reason - if it came back Positive then I would feel I was a "walking timebomb" waiting for it to happen.

So, I continue to check myself regularly and although I have yet to find anyone who will offer me a mammogram, my GP has said he will refer me when I reach 38 (which is 10 years before my mum was diagnosed.)

Wow waterbaby, amazing. 30 of you being tested. It does create a whole new type of "illness" this testing, where you can be ill without actually being ill.

I always think of a friend of mine when this subject comes up, his mother was diagnosed with MS about 30 years ago, the Dr and his father took the decision not to tell her (unbelievable I know, couldn't happen today) but she was symptom free for 25 years+, only when she started getting symptoms did they tell her. Now I always wonder if she had been told 30 years ago, how quickly would she have become ill? Or at least FELT ill, acted ill etc.

Different people respond to illness or the threat of it in different ways. I have a bit of a history of breast cancer in my family (aunt, cousin, grandmother) so i asked for a mammogram and was told I could only have genetic screening which I turned down. I don't want that hanging over me with such a tenuous link. I feel like Slinky about it. I just wish they would give me a mammogram.

It sounds to me like you are doing the right thing though.

Tamum, would you know the reasoning behind the 10 years earlier screening thing? Why 10 years? My doctor mentioned that to me also for the colon cancer, but is willing to do me earlier (happily, it seems). Slinky, it was very helpful to me to know what that I can start getting screened for it now (although I haven't, but I will soon). Would getting a positive test back mean something to the NHS? Would you get more proactive care?

My big worry, insurance-wise, is private healthcare in the UK. We'd like to move back, but it's a big issue for us. (Well, we'd like to move back if we can...) I'd still like to hear anyone's opinion's on that.

OMG at the extra apostrophe. Sorry.

CD, is that NHS? They won't give you a mammogram but will do genetic testing? I don't think that sounds productive? Ie, that sounds counterproductive. Financially as well as everything else.

Really, I think that's just a wrong policy. But it'd be interesting to run the numbers... anyone got numbers?

I have to say, I'm really shocked for you both, CD and slinky, that you were refused mammograms. That's pretty awful. My SIL has them regularly because my MIL had breast cancer, and she's been having them since her early thirties. I'm staggered that no-one is willing to give you that peace of mind.

Waterbaby, I hope it all goes well. It sounds as though finding the gene in your family might be very very important in research terms, it could shed all sorts of new light on cancer biology.

I thought I would just post a link to some of Nancy Wexler's writing, in case any of you are interested. This is a very long article about Huntington's disease. About half way down it changes from how they found the gene to the issues raised by this, especially in terms of counselling. Now, it won't be terribly relevant in terms of cancer, because the thing that is very different about HD is that there is, in spite of recent hopeful signs, no cure as yet, so a diagnosis is a deferred death sentence. Even though it is not strictly relevant to cancer diagnosis, it is still a very interesting read, I think. She is a doctor who was instrumental in cloning the HD gene. Her mother had previously died of HD. Nancy herself has never revealed whether she has had the test.

I was reminded about this partly by the worry about whether to get your children tested. I don't know if it is the same situation, but for HD children are not allowed to be tested, even with parental consent, until they are 18 and can be considered genuinely to have made up their own minds. I hope some of this is interesting and/or useful. You're all very brave if you don't mind me saying so.

My mum died of breast cancer aged 41 and there is cancer in my family with about 90 percent of my relatives dying from one form or another. I asked my GP about genetic testing and was referred to a genetics hospital in Manchester who took details of my family history and basically told me how much higher my odds were than others at contracting certain cancers. I was told there was not a high enough risk for me to have a mammogram. I live with a feeling that I will defiantely contract cancer of one form or another and am becoming increasingly scared as I am getting older. I now find myself deliberately not checking as I don't wish to find any lumps even though I know this is wrong. Does anyone else feel the same way?

Sorry JJ, our posts crossed. No, I have no idea about the 10 year thing, it seems barmy to me (but then I'm not a medic )). The only thing I can think with mammograms is that they're trying to minimise them because they involve low level irradiation, but then they're offered routinely to women over a certain age. I suppose in terms of cost, a genetic test would be considered to be a one-off (assuming you know the right gene to look for), and for a dominant disease in 50% of cases there would be a good result, so they would be "off the books", and further testing (which would happen yearly, presumably) would then be targeted to people who are at higher risk. Beats me though, and I'm sorry I don't know about all the insurance issues. I'll try to find out though.

God, magnum, you poor thing. At the risk of sounding like a broken record, all I can say is what I said to JJ, that at worst you have a 50% higher chance of contracting breast cancer, as you are just as likely to have inherited your mother's "good" gene as her bad one; you then have to bear in mind that only a relatively small proportion of breast cancers are hereditary, so it may be a complete coincidence. I'm really sorry. Pleeeaaase keep checking yourself though, will you?

Thanks tamum, I know its irrational not to check as if there is something there it won't just go away, but I know if I did find something I wouldn't be able to cope. I was only eight when I lost my mum to this awful disease, but I remember a lot of what she went through (she suffered for 5 years) and unfortunately I am not as strong a person as she was. Things have got worse since my dd was born 4 months ago and I can't bear the thought she might have to grow up without a mum like I did.

I wish I could give you a hug magnum. I had a breast cancer scare earlier this year that went on for quite a while, and although I felt I could deal with it, however bad, for myself, I just simply couldn't bear the thought of what I might put my children through. It doesn't sound to me as though your experience with the genetic counselling was any good at all. I wish I could say something to help.

Magnum, how old are you? I completely understand the not checking--- although it's not my situation at all. If you're anywhere near 31, your doctors should be testing you now.

Tamum, what sort of radiation do they use? I assumed it was along the lines of xray.

The reason I was given for not having a mammogram was that at my age (33) my breasts were naturally lumpy due to hormones at certain times of the month.

Magnum, please carry on checking yourself. I know how you feel - sometimes, I imagine that I have found a lump and fly into a panic - but then the next day it's gone!

Last month, I had to go for chest x-rays for on-going breathing/cough problems - and I sat in the waiting room, wondering if they would find a shadow.

Sometimes I say to DH "I wish I could have them removed, then I wouldn't have to think about it".

Thanks tatum, everything seems worse when there are children to consider. It does really seem to be affecting my day to day life at the moment and life is so short to be worrying all the time. It is also spoiling my enjoyment of dd. I think I do need some sort of counselling and will look into it as my GP is not very helpful.

I am a slow poster and our posts crossed -- huge sympathy magnum. I think you should check also... and goddamn the doctor who doesn't give you a mammogram.

In response to JJ I am 32 and not far off from when my mum was diagnosed. I would really welcome a mammogram to put my mind at rest if I was offered one, but then again might be too scared to go

JJ, yes, I think it's X rays, you'd probably know more than me about that! It's just that it could conceivably induce DNA damage.

Slinky, that makes sense, but if you're at increased risk then they just have to deal with it, surely? I had to go back for a second mammogram because they found a shadow on my first one that turned out to be caused by my "unusually dense breasts" (don't know whether to be flattered or appalled ), so I guess you could say that screening can cause increased anxiety in that sense, with apparent abnormalities simply being caused by hormonal changes in pre-menopausal women. Still seems wrong though.

Mganum, it as been shown that mamograms induce more cancers than they diagnose in pre memopausal women, thats why they are not used to screen younger women.

JJ - don't worry, I was freaking out first, thats why I started it. Anytime you confront your own mortality / vulnerability about anything is scary.

I agree with what you are saying CD about illness without being ill, but I don't see a positive result as an indication that I will get cancer, just that there is a slightly higher risk. At the moment with our family stats it feels like a pretty high risk already!