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INSIDE THE ETHICS COMMITTEE

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Programme 1. - Genetic Testing for Adult Diseases

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RADIO 4

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WEDNESDAYÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌý 24/05/06ÌýÌýÌýÌýÌýÌýÌýÌýÌý 2000-2045

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PRESENTER:ÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌý VIVIENNE PARRY

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CONTRIBUTORS:ÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌý TOM SHAKESPEARE

ÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýAINSLEY NEWSON

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PRODUCER:ÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýÌýMICHELLE MARTIN

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NOT CHECKED AS BROADCAST

PARRY

Hello. Over the next three weeks on Inside the Ethics Committee I'll be presenting real life medical cases, each posing a complex set of ethical dilemmas to three different panels of experts, drawn from the clinical ethics committees that sit in hospitals up and down Britain.Ìý We'll be hearing testimonies from those involved in each case, and showing the process by which these committees weigh up the ethical dilemmas, and then give their advice.

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And, having heard the programme, you too will have an opportunity to give us your thoughts by telephone or on the programme's website.Ìý I'll be giving you the details later.

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But in this first programme of the series, my guests today will consider the ethics of genetic testing in a heart-breaking case involving Gary and Lisa, a young couple in their early thirties and their two children.

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Gary was haunted by the early deaths of his father at just 37, and of his grandfather in his early 40s.Ìý Both died from cancer.Ìý His wife Lisa takes up the story.

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LISA

When I first met Gary, looking back on it now, about 18, 19 years ago knowing that his dad had died and also with his grandfather dying at quite a young age he basically thought that he would probably get cancer.Ìý We first went to the genetics clinic around '98 because we basically wanted him to have peace of mind, to find out if there was anything that was genetically linked to him, his father, his grandfather, so that we could - we could just get on with our lives without having to think oh my goodness maybe one day he might be ill.

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PARRY

So together the couple sought specialist advice from a clinical genetics centre.

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GENETICS COUNCILLOR

We were first referred Gary in 1998 because he was concerned about his strong family history of cancer.Ìý We felt that the pattern was sufficiently unusual that there was a strong possibility of an underlying diagnosis of hereditary Non-Polyposis Colorectal Cancer.Ìý Much the commonest cancer that occurs in HNPCC is cancer of the colon, as you might imagine from the name, and most colon cancers probably arise from a polyp, which is a little pea sized lump and polyps can sometimes regress and drop off on their own but often they will progress to a certain size and beyond to become a colon cancer.Ìý And it probably takes about 10 years in the general population for a polyp to proceed to a cancer.Ìý In HNPCC weÌý think that the polyp progression to cancer is much more rapid, possibly only three years.

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PARRY

'Hereditary Non-Polyposis Colorectal Cancer' or HNPCC is also known as 'Lynch Syndrome'.Ìý There is no cure or lifestyle measures that can guarantee prevention. Most people with this, develop cancer in their 40s, but in rare cases it can occur much earlier, in their 20s.Ìý The difficulty with diagnosis is that, unless there is a living relative with the disease, genetic testing is very difficult - as it was with Gary.Ìý This is because of the number of different mutations that cause this disease - unless you know what you are looking for and where, it's like looking for a needle in a haystack.

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Although Gary didn't have a definite diagnosis of HNPCC, his family history meant he was considered high risk.Ìý He was offered regular bowel screening, which involves examination of the gut wall with a flexible telescope.Ìý If polyps are discovered, they can be removed before they become malignant tumours.Ìý But there is no guarantee that all of them will be found in time.Ìý And this is what happened to Gary.

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LISA

Around January in 2000 Gary became ill in himself, just basically loss of appetite, feeling of bloatedness, very, very tired.Ìý Obviously we visited the GP, very difficult to diagnose anything because his symptoms weren't necessarily anything specific.Ìý Eventually, later on that year in 2001, he actually did go back for another colonoscopy.Ìý It was then found that he did a substantial large tumour in his bowel and he was diagnosed with bowel cancer.Ìý We both felt devastated on the news, it is very - it's very hard to live sometimes thinking no it's not going to happen to that person but obviously it had taken place and we were devastated by the news.

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PARRY

It's now known that there are half a dozen genes involved in HNPCC, an error - a mistake - in any one of them causes the condition. The patterns of error are unique to each family and passed down from generation to generation.Ìý Lisa and Gary returned to the genetics clinic, anxious to know, for their children's sake whether he had HNPCC.

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LISA

After Gary had been tested they actually came back and said yes he did carry a mutant gene for this particular cancer.Ìý And at the end of 2001, going into 2002, it was discovered that the cancer had actually travelled in the lymph nodes, so obviously Gary was offered chemotherapy.Ìý We were then told by the oncologist that in all probabilities the chemotherapy would more than likely make Gary sterile, which we didn't really mind at the time, having the children already.Ìý So obviously to my surprise in October 2002 I found out that I was pregnant.Ìý I wanted prenatal testing really because if the baby carried the gene could I continue with my pregnancy or would I have a termination.Ìý We all knew that Gary wasn't going to live.Ìý I didn't know if I could bring another child into this world seeing Gary suffer the way he did but knowing that possibly the same thing could happen to that child.

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PARRY

The couple found themselves in a desperate situation.Ìý Gary was dying.Ìý Lisa was carrying his baby in the knowledge that if the same deadly gene were present, their child too might have to go through the same suffering as Gary. It was more than she could bear and unsurprisingly, she wanted the baby tested.

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And at that point, let me introduce the panel for today.

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Anneke Lucassen is a consultant at Wessex Clinical Genetics Service and is on the Clinical Ethics Committee for Southampton University Hospitals Trust.Ìý Ainsley Newson is a Lecturer in Biomedical Ethics at Bristol University. Until recently she sat on the Clinical Ethics Committee at St Mary's Hospital in London.Ìý And on the line from Newcastle Tom Shakespeare, who is social scientist and also a lay member on the Clinical Ethics Advisory Group for Newcastle Upon Tyne Hospitals NHS Trust.

Tom has been involved in the disability movement, and has the genetic condition achondroplasia which causes restricted growth.

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So Lisa has asked for a genetic test, there's a 50/50 chance that her baby will be positive and she's undecided about whether to terminate her pregnancy if it is.

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Ainsley, let's start with you.Ìý This is a very, very harrowing story. Would testing for HNPCC normally be offered in pregnancy?

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NEWSON

I think it would be very unusual to offer this test in pregnancy.

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PARRY

Why?

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NEWSON

Largely because this is an adult onset, not completely penetrant - that is not 100% chance that you're going to get the condition and it's also something that we can do something about by screening people at risk.Ìý However, that said, as has been highlighted in the excerpts from Lisa, she has a very particular set of circumstances - she has a husband who's desperately ill and she's very worried about her future.Ìý What we would look for, as members of a clinical ethics committee, are characteristics about the condition, so when is the person with the condition likely to become unwell, how likely is that because it's not always 100% and what have other committees decided in the past that are similar or dissimilar to this one?

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PARRY

Anneke, you're a genetics consultant, so you're really at the sharp end here.Ìý What sort of advice would you be giving Lisa?

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LUCASSEN

I think we have to ask Lisa why she wants a test in pregnancy.Ìý Is that because if the test were positive she would terminate the pregnancy?Ìý If she said to me she didn't want a termination, I would ask her why does she want the test now.Ìý This testing carries between a one or two in a hundred chance of miscarrying the pregnancy and if she's then not going to terminate it what's the benefit of having the test?

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PARRY

So the test might cause the miscarriage of a perfectly healthy baby?

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LUCASSEN

Yes, that's correct.

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PARRY

Would you only offer though testing if the woman, in this case Lisa, agreed to a termination?

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LUCASSEN

Well I think that that's the very nub of the ethical dilemma because clearly that would be unenforceable.Ìý But I would ask her what her plans were and if she's not going to terminate the pregnancy then why risk the pregnancy by the very test that she's having.

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PARRY

Tom, can I bring you in here?Ìý You have a genetic condition yourself, do you have concerns about the ethics of prenatal genetic testing?

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SHAKESPEARE

I think a lot of disabled people are anxious that prenatal testing could be eugenic - that is to say it could impose decisions or responsibilities which are, as it were, opposed to disabled people.Ìý I would distinguish between genetic screening and that's what people will be most familiar with, for example, things like for Down's Syndrome and spina bifida, often through ultrasound or not necessarily, as it were, DNA methods, where I think those are real problems.Ìý And this case that we're talking about and similar ones, genetic testing where it's for a very, very small number of people who have a family history who also have a very good relationship usually with geneticists, like Anneke, and are much more likely to be able to offer proper informed consent to those individuals.

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PARRY

But Tom why is it different?

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SHAKESPEARE

What worries me about Down's Syndrome screening is that our maternity services, which are very effective in improving health for mothers and babies, are also a bit like a sort of production line where people don't have the time or the support and the information to make a fully informed choice.Ìý That's what I worry about.

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PARRY

I mean I think a lot of people worry about prenatal testing that it has this potential for eugenics.Ìý Anneke, how do you try and avoid that as a consultant?

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LUCASSEN

I think that's very difficult and I think that clinical genetics of course has tried to distance itself and its eugenic roots over the last 50 years and I think from that has come a notion within clinical genetics often that it takes a slightly different stance from other medical specialties of trying to be non-directive.Ìý But I do believe that's not possible in this case, I think the mere fact that a test is available is somewhat directive, you're telling Lisa that she can have a test and that she could terminate.

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PARRY

But what if you disagree ethically with someone's decision, can you refuse to do the test?

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LUCASSEN

I think it's not so much an issue of me disagreeing with it because I think I wouldn't disagree with her decision if I thought her decision was informed and considered.Ìý I might disagree with it if I felt that she was coming to a rushed decision or didn't know what it meant for her.Ìý So I don't really feel that my personal ethical views play a large part there.

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NEWSON

Although if they did, as a health professional, you would have the right enshrined in law to conscientiously object to providing that treatment.Ìý However, you would be required to then refer her on to another colleague.Ìý And additionally I think another element of this debate here is that it wouldn't just be Anneke that would be acting as the gatekeeper to this test.Ìý The decision would be made, as in many medical decisions being made, by a team and any concerns that the consultant would have in this case she would take those to a clinical meeting and the case would be discussed there.Ìý And then they may choose to go further by bringing it to a clinical ethics committee.

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PARRY

Tom, should we be able to draw up some ethical list of conditions that can be tested for and another list that can't be tested for?

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SHAKESPEARE

It's a very difficult one because obviously the salience of a disability or a condition is different to different people and obviously disability and disease is so varied, we've already observed the difference between a congenital condition and a late onset condition, between something which causes intellectual limitations, something that's visible, something that's invisible.Ìý Different people will have different judgements about what makes a life worth living and what they can cope with and what they wish to avoid.Ìý I would be wary about putting down a law or a strict set of rules as to what can be tested for and what can't.

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PARRY

So you wouldn't want, for instance, to separate conditions into congenital - those are found at birth - or late onset ones as being distinct?

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SHAKESPEARE

No I don't think so.Ìý I don't think the fact that it's late onset means that it's necessarily less serious than something which affects people at birth.Ìý My own condition, if I can refer to it again, achondroplasia, is from birth and it makes people look different and they have some physical limitations …

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PARRY

And did you have your two children tested?

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SHAKESPEARE

No because I don't think it's a significant problem and I know thousands and thousands of people who live with it perfectly happily.Ìý I'm not going to die, god willing, at the age of 37 or in my early 40s from my condition.Ìý There's a high likelihood that this child, were it to have the gene change, would die at that age and so I think that she should be offered the test.

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NEWSON

There's another example that's also been talked about quite a lot over recent years and that's deafness, which again is a condition that to many might not be considered major enough to warrant prenatal testing.Ìý However, there's been some interesting research done recently which has showed that even people who have deafness don't actually object to this test being made available, although they may choose not to use it themselves.

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SHAKESPEARE

I think the problem that many disabled people perceive, and the case of deafness is an interesting one, is that most non-disabled people are ignorant about disability and in some cases prejudiced and I don't want people to make decisions on the basis of ignorance and prejudice.Ìý I want them to understand that for example in that case, people with deafness, can lead a very good life and they can do everything everybody else does.Ìý The parents may still decide that they don't want it in their family and however much I disagree with it personally I believe they have the right to have that test and to have that termination.

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PARRY

So do we give people whatever they ask for Anneke?

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LUCASSEN

No I don't think we give them whatever they ask for but we want what they're asking for to be considered and informed and so we help them make that informed and considered decision.Ìý There is a bit of a danger of making genetics a bit productionist, to think that if you've got a faulty gene it's going to cause death.

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PARRY

How many people actually develop the disease because not all of them will, will they?

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LUCASSEN

No, no, on average it's between 60 and 85 out of a hundred people who carry such a gene fault will develop it at some point in their lives but we can't predict when.Ìý One of the things I would go over with Lisa though is that there is an 80% chance of a child developing bowel cancer but that's not the same as an 80% chance of dying.Ìý And I would be very optimistic that over the next 20 years the - maybe there isn't a cure but the chance of a child surviving that cancer would be greater.

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PARRY

Tom, is her distress sufficient reason to give her what she wants?

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SHAKESPEARE

We I think do offer people prenatal diagnosis for late onset conditions like Huntingdon's Disease and in some cases for the genes which cause a high likelihood of breast and ovarian cancer.Ìý And presumably this is a similar sort of case.

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PARRY

Is there a case though for saying that actually you shouldn't be testing because after all here we have a condition that might not have an onset for another 20 years by which time there might be a cure for HNPCC?

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SHAKESPEARE

Of course there is a case for that and many people would say that a life of 30 or 40 years, which is healthy in every way, is quite worth having and those people who are concerned about abortion would certainly say that.Ìý I think the prospects of a cure - I don't think we should put any high hopes on that and certainly we've known, for example, about the genetics of Huntingdon's Disease and many other conditions for 20, in some cases 30, years and we haven't had a cure yet.Ìý So I don't think we should bank on it.

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PARRY

Ainsley, is it getting to a stage where we're trying to control things too much because after all you can test for one condition and it be negative but the baby would be born with something entirely different or indeed develop a life threatening disease in childhood?

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NEWSON

That's a really interesting question.Ìý We are getting to a stage where we have a lot of tests that we can offer women in pregnancy and families who have a history of particular diseases.Ìý And certainly we are right to stop and think and reflect on this and think about where we're going with it.Ìý On the other hand most couples I think are definitely aware that whatever tests we're offering them in pregnancy, it's never going to be a hundred percent guaranteed that it will lead to the birth of a healthy child or a healthy baby.Ìý However, just because we can't offer that guarantee is no reason not to test for things that we can test for, for these families who have very specific questions that they want answered.

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PARRY

Anneke, a last question to you before we come to some sort of resolution on this.Ìý Lisa and Gary's case is particularly harrowing but how much does personal circumstance influence ethical committee decisions?

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LUCASSEN

I think it influences it quite a lot and it should do, the personal circumstances of a case are very pertinent to the decision to be made.Ìý I would be not in favour of any list that says certain conditions could be tested for and others couldn't because it is so dependent on what's going on in that particular family.

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PARRY

So can I come to you all now and ask you, each of you, what your recommendation is on this particular point?Ìý Should Lisa have prenatal genetic testing?Ìý Ainsley.

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NEWSON

I think given Lisa's unique circumstances and provided she was given all this information I think Lisa should be offered this test if she wanted it.

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PARRY

Tom.

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SHAKESPEARE

The decision's up to her but I think she should certainly be offered it.Ìý I mean we allow testing for congenital disability which doesn't cause death and doesn't cause huge suffering and this seems to be a much more serious condition.

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PARRY

Anneke.

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LUCASSEN

I'm not sure she should be offered it, I think if she's asking for it then we should consider it but I would want to talk through with her whether she was going to have a termination or not, I'd be very concerned about offering the test in the knowledge that she wasn't going to terminate that pregnancy.

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PARRY

So now let's find out what actually happened in this case? Let's hear from the genetics counsellor who Lisa approached for prenatal testing.

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GENETICS COUNCILLOR

We had to take into account the extraordinary and exceptional circumstances of this case in that her husband was dying, Lisa found herself pregnant, she had two young children and clearly had decisions to make that were very complex.Ìý And it was on this basis that we decided to proceed with taking a sample from the placenta to see whether the baby carried the mutation or not.

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LISA

I actually received the news of the testing a week before Christmas and I was told that everything was clear and I was elated.Ìý The relief was just, you know, outstanding, it really was.

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PARRY

At last a bit of good news for Gary and Lisa.Ìý However, Gary's condition was now deteriorating rapidly.Ìý Fearing that he might never meet his baby Lisa asked for an elective caesarean section four weeks before she was due.Ìý She chose a very special date.

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LISA

I specified the date on the 19th June 2003 because the 19th June in actual fact was my wedding anniversary and obviously I knew that the date would always be very special to us.Ìý She's a very special little girl and my daughter Olivia was born on the 19th June 2003.Ìý Gary subsequently died six weeks later but obviously he met his daughter and he had a chance to get to know her in the time that he was still here.

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PARRY

Gary was just 36 when he died.Ìý It was an immensely difficult time for the family and although Lisa was relieved that her new baby didn't have the HNPCC gene she began to worry about the status of her other two children.Ìý A few months later, she returned to the genetics clinic with a new request.

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LISA

I was very concerned because I'd seen what my husband had actually gone through, so I wanted to know if any of my other two children carried the genetic mutant gene.Ìý I just wanted to be able to deal with it, I wanted to be able to cope with life knowing if they have got it and watching for every kind of health abnormality so that if they ever developed anything it would be caught in the very early stages.Ìý I wanted blood to be taken from them but I also didn't want them to know what it was for because I just felt that they were too young to deal with it - their father had just died, I didn't want to scare them, simple as that.

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PARRY

So Lisa wanted her children, then 8 and 13, to have blood taken which could then be tested for HNPCC. But, she didn't want them to know why, or give them the results until she thought it right.

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And this brings us to our second set of ethical dilemmas. Should parents be allowed to test their children for late onset genetic conditions without their consent? Should parents decide when and if they are given information about their future? Should indeed they have this information at all?

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Anneke, is that a correct summary of those dilemmas?

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LUCASSEN

Yes I think it is.Ìý I think it's very interesting here that Lisa's asked to have her children tested without their knowledge, so there are sort of two separate questions, one, should she have her children tested and the other is can she do it without their knowledge.Ìý Now she may not be able to do it with their consent because they may not be old enough to consent but she could at least do it with their assent, so that they know what's happening and …

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PARRY

So for instance they know that a blood test is being taken but they don't understand the implications of it?

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LUCASSEN

Yes and I think to hide the fact altogether is more problematic than to do it with some brief explanation of what's going on.Ìý

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PARRY

But how do you explain to a very young child that you're taking blood because you want to find out whether they're going to get cancer or not?

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LUCASSEN

I don't think we have to use the word cancer, we can talk about looking out for things and catching things early and that that might need special investigations and that if things are treated earlier then they're less likely to run into problems.

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PARRY

Tom, is it Lisa's right to know the genetic status of her children?

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SHAKESPEARE

No I don't think it is, I think that there is two sets of rights in conflict - her right to know and their right not to know.Ìý And I think that most emphasis would support the children's right not to know.Ìý There's a sort of ethical argument about what's called a child's right to an open future, to make decisions for themselves, to have control over their life.Ìý I suppose if the uncertainty was causing Lisa huge psychological turmoil, such that her parenting was affected and the children themselves were very negatively affected and I think that's very unlikely but unless it was this very extreme scenario I would certainly agree with Anneke that her rights to know do not overcome the children's rights not to know.Ìý And we know that parents do make decisions for children because often they have to, there are decisions which have to be made.

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PARRY

I was going to mention that, that there are in fact - immediately a baby is born there's the heel prick test which is for a genetic disease, now there the parent is obtaining that information straight after the birth.

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SHAKESPEARE

The difference there is that you can actually do something about that.Ìý That's usually to detect, among other things, PKU which is a disease which can be entirely, almost entirely, mitigated by dietary change.Ìý And, for example, you might also, if there was a risk of it, think of testing for cystic fibrosis because there's early treatment that can really make a difference to the prognosis of kids.Ìý But in this case there isn't any early treatment, there isn't any danger that in childhood the disease will manifest therefore it's hard to see what is gained, except for possibly peace of mind or certainty on behalf of the mother.

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LUCASSEN

I think the important thing is we're talking about adult onset conditions and we know that this particular condition - HNPCC - does not arise in childhood.Ìý And we also know that some children grow into adults who would rather not know whether they carried the genetic mutation or not.Ìý And if the parent chooses for them they're denying them this autonomous decision later in life.

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PARRY

So what would you say to Lisa?

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LUCASSEN

I would try and explore her concern about looking out for things and catching things early, which I think is very understandable but actually are very unlikely to be the case in her children, they're not going to develop any symptoms until at least their early 20s.Ìý And so if anything all she can do is be anxious about them.

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PARRY

And there isn't anything particular that she could do like feed them a better diet for instance?

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LUCASSEN

Not as far as we know, there's no evidence to suggest that anything different could be done and I would think in any case then the argument could be well why not do that anyway and let them decide for themselves whether they want the testing later in life.

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PARRY

But Tom you mentioned earlier that you would allow the test if the mother was so disturbed by her anxiety about this that her mental health was at risk.

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SHAKESPEARE

I think so because of course the reason we didn't want to test the child was because it was not in their best interests.Ìý But if the mother's ignorance is causing her huge psychological harm and as I say she's not able to parent the child very well or - then it would cause the child harm and it wouldn't be in their best interests for their mother to remain ignorant - do you see what I mean?Ìý So although I think that the principle of childhood autonomy is very important, I think the principle of childhood wellbeing is the most important thing and there are circumstances - very, very rare ones - where I could imagine waiving that general opposition to testing …

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PARRY

Anneke, you clearly disagree with this though.

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LUCASSEN

Well I agree with Tom that childhood wellbeing is important, I'm not sure that this is a solution to it though, I would think that there are other avenues that could be explored with Lisa to ally her anxiety.Ìý She could have other means of support to deal with that without having to do the testing just because she is very anxious about it, she wouldn't get that much peace of mind or certainty with a positive result, there's still a huge amount of uncertainty that goes with that.

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NEWSON

The other concern I would have here too is that if we offer the test to Lisa's children now Lisa will go away with that information which is either a positive gene change or a negative result that they don't carry the gene change.Ìý And we may never see Lisa again after that and so we have - well professionals would have absolutely no control over how that information would be communicated to those children.Ìý And so in a way there's a concern then that it could come up at a much later stage in the heat of family argument, for example, or Lisa may not have a hundred percent recall about what actually happened in the clinical scenario and so she might actually provide them with misleading information about the condition.Ìý And so if we can encourage her to wait the information can be given to her children in a form that's appropriate to their age when they're competent enough to decide for themselves whether they want the test.

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PARRY

Tom.

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SHAKESPEARE

I just wanted to add one practical point, which is that we're not quite sure how public policy will develop in this area and certainly there are suggestions that there's a risk of genetic discrimination in things like insurance and possibly even employment.Ìý That is to say people who've had genetic tests which have proved positive may not be able to get insured or may be discriminated against in jobs.Ìý Now we don't know how much that will be an issue in future but if Lisa has this test on behalf of her children she's denying them the possibility to avoid that potential discrimination.Ìý They may later decide that the risk of discrimination is such that they don't want to have the test because they don't want to have to disclose it to insurers or employers.

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PARRY

Ainsley, is there not a moratorium at the moment?

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NEWSON

There is.Ìý At the moment the Association of British Insurers and the government, including numerous government committees, have come to an agreement that genetic test results from predictive genetic tests like this one cannot be used by insurers to load premiums.Ìý What they can use is family history information, so the fact that there is cancer in the family can be used.Ìý The only time that a predicted genetic test result can be used by an insurer is for a policy over £500,000 for life insurance and even then it's only for Huntingdon's Disease.Ìý And this moratorium lasts, at the moment, until 2011, so most people can feel fairly confident that they're not going to be discriminated against as a result of having a test like this.

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PARRY

Tom, is that view?

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SHAKESPEARE

I think I'm slightly less sanguine than Ainsley, she's absolutely right of course about the situation now but these are still children who are in their early teens and I couldn't guarantee that the situation wouldn't change in five years time.Ìý Yeah it might be about the time that they're starting to think about getting a mortgage and it may be relevant to their decision.Ìý I mean I think there's a problem for clinical genetics, which is that quite rightly geneticists want their clients to have the best possible information and the best possible tests, where appropriate, and there's a danger that if we don't get this right genetic discrimination will, as it were, deter people from having investigations which might be necessary for their health.Ìý So I just want to put down a marker that it's not a problem at the moment, it may be in future and we should be vigilant against it.

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PARRY

Anneke, can I come to you about the dynamics of the family after testing?Ìý I mean if you have a disease with a 50/50 incidence in this case, what if one test's positive and the other is negative?

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LUCASSEN

Quite often in families we do notice that people find that quite difficult and perhaps surprisingly people who tested negative can feel quite guilty about not having inherited what's going on in their family.Ìý And I quite often do come across families where the older generation says - Oh I'm glad that this testing wasn't available when I was having children because I never would have had children.Ìý So I think that's an important thing to bear in mind.

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NEWSON

Equally to bear in mind too is how Lisa herself is dealing with this information at this particular point in time and in fact when I've been working with the clinical genetic services in London I came across several cases where we had people whose spouses had died and they had children at risk and the first thing they did was in a matter of months after their partner dying came in and asked for the same test for their children.Ìý And so we have to really see it in that context of wanting control over their environment.

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PARRY

So are you saying that really where there's a situation of bereavement and grief that's really clouding people's judgement that actually they shouldn't be allowed to have that sort of testing or request it until rather later?

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NEWSON

I don't think we can frame it in language that's as strong as should and should not but as members of the clinical service people should work with families to encourage them to go through all the issues.

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PARRY

But in the end if she comes up with a decision which is right for her but which you think is wrong for the children where does that leave you?

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LUCASSEN

I think this is slightly clearer than the pregnancy situation, for me anyway.Ìý I would think they have to treat the children using the best interest argument - what is in their best interest in terms of testing - and I cannot argue that it's in their best interest to know now, even if Lisa was absolutely insistent that she had that test now I would ask her to think about it and by all means come back and talk it through but I wouldn't be happy, in this particular set of circumstances, to test them in very young childhood.Ìý We do see these sort of examples quite regularly in the clinical setting.Ìý I've not known of a single case where after this sort of discussion the parents have been insistent on testing, usually, and I think in my experience entirely, people have seemed to have been happy with that decision after they've gone over the pros and cons.

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PARRY

Okay so what would you as a panel recommend in this situation?Ìý Should testing of the children be allowed?Ìý Tom.

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SHAKESPEARE

I don't think it should, I think that that situation has to be explained to her very carefully and supportively but as Anneke says I think the child's best interests would not be served by this test being carried out on behalf of the mother.

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PARRY

Anneke.

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LUCASSEN

I agree with that.

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PARRY

Ainsley.

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NEWSON

I would advise against testing Lisa's children at this point in time because clinically there's nothing that can be done until much later in their lives.

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PARRY

Let's find out what the decision was in this case, first from the consultant at the genetics clinic, and then from the mother, Lisa.

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CONSULTANT

In general terms with genetic conditions with adult onset we don't test minors, we leave the time of testing until they can make their own decision as adults.Ìý And one of the reasons for that is that we're not going to intervene in any way, medical or otherwise for screening purposes in particular, until the child is about 25 years old, unless there's been an exceptionally young colon cancer in the family, which is very, very rare.

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LISA

They couldn't be tested without them knowing because it was unethical, no matter how young they are, they still had to know what they had their blood test taken for.Ìý Sometimes I do think that possibly with my other two children not knowing might be best for myself, for them because then you can just get on live - live life how it should be lived without having to be rushing to the doctor's every five minutes if you feel something's not quite right.Ìý So I had decided to not have them tested and that they will decide when they're old enough to understand.

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PARRY

And that brings us to our last ethical dilemma for discussion, which is around when a child is deemed old enough to request testing for themselves.

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LISA

Last year my son, who is now 15, actually asked me the question completely out of the blue is there a genetic link to why his dad died at the age he did and his granddad and his great granddad.Ìý I was quite shocked but I realised that he had actually been listening to family conversations going back a few months beforehand and he wanted to know if there was a genetic link.Ìý I then went on to tell him the truth and yes there was.Ìý His first reaction actually was I want to be tested, I want to find out now.

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PARRY

Tom, if the son was positive, how could finding out affect him?

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SHAKESPEARE

Well I mean it's a very difficult thing to learn, isn't it, that you are possibly at risk of a serious disease at some point in the next 10, 20, 30, 40 years and I think the evidence from families who are at risk of Huntingdon's Disease is that some people don't take it very well at all.Ìý It may be that you feel fatalistic, you might feel there's nothing worth doing, why bother studying, why bother going to university, but it is disturbing and I think that a young person in this situation should have that counselling to talk through what the possible impact might be.

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LUCASSEN

The majority of times that I've come across this situation, discussing things with a young person, means that they can come to a more informed decision and usually that is one where they defer things until there is something active that they can be doing.

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SHAKESPEARE

Ainsley, how does living with a threat of a genetic disease affect people?

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NEWSON

This is something that's quite often ignored by people when they're asking questions about adolescents seeking genetic testing.Ìý We tend to focus on what's going to happen to that person if they receive a positive or negative gene test result, we don't ask what is it like for them now, living at risk.Ìý And some recent research done in Australia has explored this very nicely and two particular patients stick out.Ìý One girl said I feel like I'm being forced to live while I'm holding my breath, not knowing is stopping me from making decisions about my life, I feel that I can't move forward.Ìý Another person likened it to living in a pressure cooker, living with this indecision.

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LUCASSEN

I think Ainsley though you're referring to a particular situation of Huntingdon's Disease aren't you where a test will give a bit more certainty.Ìý In this particular situation a test is not going to add a total amount of certainty, so if he tests positive for the gene then he may not develop cancer and he has no idea when he will develop cancer and it may be treatable and it may be picked up early.Ìý If he tests negative for the gene he might still develop cancer in later life.Ìý So I think there's much less certainty that comes with this particular gene test and I think that's very important that they know that beforehand because I think a lot of 15 year olds will come in saying just sort it out for me, have I got it or haven't I.

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PARRY

Ainsley, how can we decide when a child is competent, at what age are they competent?

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NEWSON

Of course it's going to vary from the person to person.Ìý What we would look for is them having made this decision and held that decision over a period of time, if not years.Ìý So we're looking for them to express strong desires for testing, that they understand what they're getting into effectively, they know about the condition and they're really expressing a strong wish to have this test.Ìý We have legal standards as well to test for whether people have the capacity to consent to this test.Ìý But most of all I think what we're looking for is the stable wish over time.

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PARRY

Tom, just finally with you, should really ethical committees be making these decisions, isn't it just for families to make the decisions?

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SHAKESPEARE

I think what often happens is that normally it is the clinician in consultation with the families who makes those decisions but I think they value talking to philosophers, lay people, other clinicians about what they might do because these are difficult decisions and of course the science is developing.

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PARRY

Tom surely you know why should a bunch of ethical committee people make a decision for a family, it's their bodies, their genes, shouldn't it be their decision, never mind that interfering lot in the committee?

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SHAKESPEARE

Well nobody has a right to treatment within the NHS and the individual concerned is not always best placed to understand what's in their best interest.Ìý The value of patient autonomy, that I referred to earlier, is very important but there are all sorts of areas in medicine where a clinician may have to withhold things because the clinician wants to do the best for the person and it's not all about choice.

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PARRY

Okay, let's come to a decision on that, what would your recommendations be?Ìý Should this child be given the test that he wants?Ìý Ainsley.

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NEWSON

If he's held a stable desire to have testing over time and understands that the test isn't actually going to put him in a much more knowledgeable position than he's in already then I think he can be offered the test.

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PARRY

Anneke.

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LUCASSEN

I would agree with that, I think I would add that in my experience talking through this sort of testing with children of that age usually they decide not to have the test done until they're older and until screening is available.

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PARRY

Tom.

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SHAKESPEARE

He should be explained all the issues but it's up to him at the end of the day.

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PARRY

Let's move on now to the implications that this particular case has for the future of genetic testing for late onset diseases?

Ìý

Tom, what are your views on that?

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SHAKESPEARE

I think what we've explored here shows how complicated it is.Ìý As Anneke says many lay people think that genetics will give them a simple straightforward answer - yes or no.Ìý Often it doesn't.Ìý And also all of the different conditions and there are thousands and thousands of different genetic conditions, are very variable, some can be treated, some can't, some affect everybody with the gene change, some don't.Ìý And so I think it's very difficult to generalise.Ìý There are principles that we've referred to, principles about autonomy, principles about not having genetic discrimination and those are what clinicians and clinical ethics committees rely on.

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PARRY

Anneke.

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LUCASSEN

I think there's quite a few studies now that have shown that if you ask people questions about genetic testing in the abstract they say yes they'd want the test and then when the gene test actually becomes available, far fewer people go ahead and have that testing than they originally thought and I think that's to do with talking through the complexity of it all and the lack of certainty that a test might bring.Ìý And again I think this just highlights that you can't make too many generalisations, you have to treat these on case by case situations.

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PARRY

Ainsley.

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NEWSON

We're certainly facing some very interesting questions and as we go on to identify more and more genes then those questions are just going to get more and more involved.

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PARRY

Well we've spent a very short time this afternoon, it's obviously something that would have taken far longer in a standard ethics committee meeting.Ìý But what's been clear is that having more information doesn't mean that decisions get any easier, instead they and the ethical issues around them become even more complex.Ìý Now what would you have advised in this situation and how do you think genetic knowledge should be used in the future? If you'd like to have your say, go to bbc.co.uk/radio4 and follow the links to the Inside the Ethics Committee page, where you can leave your comments.

Ìý

And now let's return to real life.Ìý What did Lisa's teenage son do?Ìý After having discussed it with his mother the son decided that for now he'd rather not know if he had the HNPCC gene and he hasn't taken the test.

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ENDS