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Professor Gareth Evans is Consultant in Medical Genetics at Central Manchester University Hospitals NHS Foundation TrustÌý

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Deborah Bowman, Professor of Ethics and Law at St George’s University of London

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Richard Ashcroft, Professor of Bioethics at Queen Mary University of London

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I am listening to your very interesting programme about genetic testing - but I must correct an error by one of the speakers.Ìý She said that Huntington's Disease does not develop in juveniles - and this is completely wrong. Please see the website of the Huntington's Disease Association and ensure your speaker is corrected and, if possible, a correction is broadcast. I am copying our regional RCA for info.

(Sue Fortescue)

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It has just been stated by one of your experts that children cannot get Huntington’s Disease as a child as it only develops in one's 30s and 40s.Ìý This is not true.Ìý There is Juvenile HD and a child can start JHD as young as a baby.Ìý I have worked professionally with one such sufferer who was diagnosed at 10 years.Ìý There is a JHD organisation.Ìý Please correct this error.

(Hilary Allanson)

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THE ATTACHED TRANSCRIPT WAS TYPED FROM A RECORDING AND NOT COPIED FROM AN ORIGINAL SCRIPT.Ìý BECAUSE OF THE RISK OF MISHEARING AND THE DIFFICULTY IN SOME CASES OF IDENTIFYING INDIVIDUAL SPEAKERS, THE ´óÏó´«Ã½ CANNOT VOUCH FOR ITS COMPLETE ACCURACY.

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INSIDE THE ETHICS COMMITTEE – Genetic Testing

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TX:Ìý 22.08.13Ìý

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PRESENTER:Ìý JOAN BAKEWELL

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PRODUCER:ÌýÌý BETH EASTWOOD

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Bakewell

Developments in genetics bring blessings but also dilemmas.Ìý Knowing more about our genes can present parents with a problem – if they carry a faulty gene should they test their children?Ìý

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Welcome to Inside the Ethics Committee.

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Alan was in his late 30s when he and his wife Rachel received some terrible news.Ìý

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Rachel

I remember sitting in the room, it was a tiny little room, there was a MacMillan nurse but at first we didn’t know who she was.

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Bakewell

Due to the sensitive nature of their story, Rachel’s words have been re-voiced by an actor.

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Rachel

The doctor was in front of us and he was explaining to us in a long roundabout way before he said the words ‘lung cancer’. Obviously I was trying to be positive but my face must’ve said it all really.Ìý My husband just hung his head low and he looked really shocked and the doctor was explaining that he would need to start chemotherapy.ÌýÌý The doctor was asking us how we felt and what we thought, and at the time we just couldn’t really answer, we were just so stunned.

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Bakewell

Alan goes into hospital for the weekend for his chemotherapy then he’s sent home for three weeks recovery, then back in for the next lot and so on – to and fro for several months.

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Rachel

The first couple of sessions he was ok, he wasn’t too bad.Ìý And then the sickness was coming in.Ìý He came home after having the infusion and he wanted a bath. Luckily the children were in bed and he shouted down to me and I went running up and all his hair started to come out.Ìý The kids were a bit shocked the next day because the night before their dad had hair and the following day he had none (laughs).Ìý He’d also started to lose a bit of weight, his skin was starting to go a bit translucent, that grey sort of look.

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Bakewell

Alan’s siblings are also worried about him.Ìý He has six brothers and sisters.

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Rachel

When he had the lung cancer we first thought that it was just lung cancer.Ìý But then we realised that the problem he went in for in the first place was the lump in his arm, and also talking to a family member, he had kind of put the idea that there could be something linked to the family, a gene possibly that might be involved.Ìý My husband’s brother had said to us that in the past he’d had a tumour and that he was going to have a blood test for a gene.Ìý So his brother got tested and found out that he had this gene.ÌýÌý

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Bakewell

The gene Rachel is talking about it TP53 and a fault in this gene causes Li Fraumeni Syndrome. ÌýConsultant in genetics Helen Hansen.

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Hansen

Li Fraumeni is a condition which causes an increased susceptibility to cancer. The cancers can affect any part of the body.Ìý The most common cancers are those affecting the breast the brain, but the cancers can also affect soft tissues of the body such as muscle, blood vessels, nerves, the bone.

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Bakewell

The gene involved - TP53 - is known as the guardian of the genome because it puts a break on cancerous tumours developing.Ìý So a fault in this gene releases that break allowing cancers to develop.Ìý And the chance of this happening is high.

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Hansen

The figures that are most widely quoted are about a 20% risk of cancer in childhood, about a 50% risk of cancer by the age of 50 years and about a 90% chance of cancer by the age of 70.

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Bakewell

Simply knowing about this condition has Alan and Rachel worried.

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Rachel

During that time another of Alan’s siblings was unwell and had to go into hospital and they found again that there was a tumour.Ìý That kind of started the ball rolling from the genetics side because - well my husband’s from a large family we were like – it’s like several siblings that are now being affected.Ìý What would we do if Alan had it?Ìý And the possibility that he could, was kind of getting to be higher and higher more than him not.Ìý

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Alan is getting worse.Ìý He is very weak and has to keep going back to the hospital with various infections.Ìý All the while they are trying to keep family life going.Ìý They decide to get Alan tested.Ìý To their horror, he also has the faulty gene.

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Rachel

It was kind of a sombre mood. We didn’t know much about it and what the future was holding for us.Ìý We kind of brushed it under the carpet a bit because we were dealing with Alan’s cancer, we wanted to concentrate on getting him through the next few months.

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Bakewell

Then Rachel and Alan have some unexpected news - Rachel is pregnant.

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Rachel

Obviously my first thought was how could this happen because the doctor had said that we may not be able to have more children because of the chemotherapy that Alan was having.Ìý So I was in denial. I wasn’t happy about being pregnant but Alan loved the idea of it and he was like ‘the more the merrier’, despite what he was going through.Ìý

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Bakewell

As Alan has Li Fraumeni Syndrome, there is a 50/50 chance that his unborn child could have it too.Ìý Prenatal testing can confirm whether or not the baby has inherited the same condition.Ìý

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Hansen

This is normally performed at around 12 weeks of pregnancy where a needle is inserted into the placenta and the cells are then tested for the genetic mutation in the family.Ìý This will then tell us if the baby has inherited the condition from the parents.Ìý

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Bakewell

Let’s now discuss this story so far with our panel of experts.Ìý They are:

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Deborah Bowman, professor of ethics and law at St George’s University of London; Professor Gareth Evans, consultant in medical genetics at Central Manchester University Hospitals and Richard Ashcroft, professor of bioethics at Queen Marry University of London.

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Well we learn more and more about genes behind certain illnesses so is this genetic problem generally cropping up more and more Gareth?

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Evans

Well I don’t think inherited cancer is necessarily any more common, it’s just we’re better at recognising it.Ìý So more and more genes are being identified which are being linked with a high risk of cancer.Ìý For instance one in 20 women who get breast cancer have inherited a fault in a high risk gene – we’ve heard about BRCA1 with Angelina Jolie recently and TP53 is a very rare cause of a very high risk of cancer.Ìý So it’s going to be a relatively uncommon situation but as more and more people are tested we are going to get more and more families who are faced with these sorts of dilemmas.

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Bakewell

Right you mentioned testing, well we’ve heard that prenatal testing for Li Fraumeni Syndrome is available in pregnancy, is this offered to all women who might be carrying an affected child?

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Evans

It should be part of the discussion with any family where an individual has been found to have a mutation in TP53.Ìý Generally there has to be a perception that they are at least considering not going through with the pregnancy.Ìý The reason for not allowing prenatal testing just for curiosity is that you will taking away the autonomy of that child when they’re born to have any part in the decision making for themselves.

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Bakewell

Deborah Bowman, what do you make of the ethics of this situation?

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Bowman

I accept what Gareth said but I think there are other valid reasons for having the information.Ìý So it might be about managing uncertainty within a family in a particular way, it might be about preparation.Ìý So I guess for me it may not be the only way of looking at this knowledge and I think it presupposes that we can prospectively know how we’d respond and that in and of itself is complex and difficult.

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Bakewell

Richard Ashcroft what do you make of this in terms of bioethics?

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Ashcroft

One thing that we now are able to do is test where we have a reason to worry.Ìý But what’s beginning to emerge already is where people are having panels of tests before or during pregnancy to enquire as to what sometimes people refer to as a future diary of their child’s life.Ìý So where people are starting to say well I want to know whether my baby is going to be healthy in a more general way, a sort of curiosity about their child’s genome, this will get more and more challenging for people.

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Bakewell

And your response to that is that we need to put some limits on this otherwise it becomes completely surreal and futuristic doesn’t it?

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Ashcroft

Yes my natural response to most things of this kind is caution but I recall about 10 years ago there was a genetics white paper from the Department of Health which suggested full genome testing for all new born babies.Ìý I don’t know where that came from and it disappeared rather quickly but it was definitely in there.

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Bakewell

Well that’s for the future.Ìý Let’s stay with this story because you’ve spoken Gareth of the testing in pregnancy but there is another way of testing for the gene isn’t there?

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Evans

There is the possibility of pre-implantation genetic diagnosis which is having embryos created outside the womb by IVF treatment and then when the embryo grows to the eight cell stage, so eight building blocks of the new embryo, you can then take one of those cells away and test it specifically for the gene fault that you know in that family.Ìý And then you would only implant embryos that didn’t carry that genetic fault.

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Bakewell

So let’s resume the story.Ìý

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Rachel is in the early stages of pregnancy.Ìý While Alan knows he has Li Fraumeni Syndrome, he and Rachel aren’t offered a prenatal test that would tell them whether their baby inherited it too.Ìý Alan is still having treatment for his lung cancer and there are complications – a collapsed lung. He has an operation to remove part of it.Ìý Back home he and Rachel struggle to resume their family life.Ìý As well as expecting a baby, they have three other children.Ìý But the months that follow are bleak. One of Alan’s siblings dies of cancer, and Alan is getting increasingly unwell.Ìý Soon he’s readmitted to hospital.Ìý

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Rachel

The next day I spoke to him on the phone. He was a bit tired and I asked him if he wanted to speak to the children. He said no, he didn’t want to at that time but to send them his love.Ìý And then the following day, I rang him. He sounded really out of breath, uncomfortable, you could hear it in his voice.Ìý I asked him if he was ok and he said no, he said things aren’t happening the way they should, he said I don’t feel so good.

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Rachel rings her parents to look after the children and rushes to the hospital.

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Rachel

I took my dad with me and a couple of Alan’s siblings and we went up and saw him.Ìý And he was sitting up in bed laughing and joking, he had trouble breathing, his face was pale white, his feet were ice cold. He just didn’t look right.Ìý So we were genuinely trying to keep his spirits up.

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Bakewell

During the night Alan is moved to intensive care.Ìý He dies the next day.

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Rachel

I sat in the car on the way home in total shock. How did this happen?Ìý And then the feeling of numbness was taking over.Ìý I got home. The children were still awake and then I broke the news to them.

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We got the funeral over and done with and there were issues with the children - some needed counselling, some were too young to have the counselling. But we were slowly getting our lives back together.Ìý Alan would’ve been 40 the year that he died so we marked that by having a barbeque in the garden, we sent Chinese lanterns up into the air, and I got a plaque made for where his ashes would go which is our local church.Ìý And the children did so much with the church and the school that we thought it’d be nice.

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Bakewell

Soon after Alan’s death, Rachel gives birth to their baby.Ìý Now with four children to look after, she’s on her own coping with family life.Ìý It’s proving tough.Ìý Over the coming months the faulty gene causes further devastation within Alan’s extended family.

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Rachel

A few of Alan’s siblings got tested and they were positive.Ìý A second sibling had died and some of the others were starting to develop the cancers and the gene was starting to affect the children in Alan’s family, you know, grandchildren, nieces, nephews.Ìý And because some of my kids are around that age, alarm bells started to ring, I mean this is obviously quite an aggressive gene. ÌýSo thoughts of ‘what do I do with my own kids?’ sprung to mind ‘do I get them tested, or do I leave it and let life carry on as normal?’

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Genetics Counsellor

I was asked to meet Rachel to offer her some support after the death of her husband Alan.

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Bakewell

The genetics counsellor.

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Genetics Counsellor

She was very concerned obviously for the wellbeing of the children, whether there was any things she needed to watch out for with regards to the children’s own health.Ìý She’d expressed some interest in thinking about when would be the appropriate time to offer testing.

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Rachel

What convinced me was that this gene can develop cancers in children.Ìý The more I looked into it, there was a high chance that my kids could have it. I felt the more knowledge I was armed with, well that would help later on.Ìý

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Bakewell

Is there a benefit to knowing if a child is affected? ÌýRachel is acutely aware that if any of her children have the faulty gene there’s a high chance they could become ill in childhood.Ìý The consultant in genetics again.

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Hansen

The cancers can occur at any point throughout childhood.Ìý It can be seen in very young children or it can be seen throughout the teenage years.Ìý It’s very hard to give a defined risk for a particular age-group, but overall it’s about 20% in childhood.

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Genetics Counsellor

Rachel’s hope was that testing would indicate to her which of the children she would need to worry about and march off to the GP quite promptly and which children wouldn’t be at increased risk and say well that’s just a childhood tummy ache, headache, and perhaps lighten her load as a very busy single parent.

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Bakewell

Despite the risk of cancer developing in childhood, these cancers can’t be detected early so it could be argued that there is little benefit in testing children while they’re young.

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Hansen

The main purpose of screening is to detect cancers in an early stage so we can influence survival from that cancer.Ìý But for children affected with Li Fraumeni Syndrome, the cancers can affect multiple sites within the body and there is no proven screening measurements known to be of benefit.

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Bakewell

For this reason, testing for Li Fraumeni Syndrome in young children is not recommended.

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Genetic Counsellor

Some of the concern is that by offering a test you then leave that individual with the burden of knowing that they have this condition but that actually the health service doesn’t have anything to offer.Ìý So we go back then to whether the child could make a decision about having a test maybe at an older age so that they know that then screening would be available within a reasonable time frame.

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Bakewell

In adulthood, of those who are affected, women are offered breast cancer screening from the age of 20. For men there is no screening.Ìý So parents who want a child tested are usually encouraged to wait.

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Hansen

If we were considering testing a child then ideally we’d want to be acting in the best interests of a child and ideally we would like them to be involved in the discussions that take place.Ìý We would consider waiting until a child was older, so in their late teenage years, to offer testing but people may defer testing until adulthood.

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Bakewell

Interestingly, when given the choice of testing or not more than half of adults at risk of Li Fraumeni Syndrome decide not to have the test.Ìý So it’s possible that some of Rachel’s children will feel the same.

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Genetic Counsellor

Once you’ve had a test result you can’t remove that test result and for children one of the issues is their right to know versus their right not to know.

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But Rachel is finding the uncertainty of not knowing increasingly difficult.Ìý

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Rachel

At first I was sort of a bit like ‘you know, this is my family, surely I can do what I like to a point?’Ìý But then I thought well, I don’t know, maybe she is right because I am taking their right away.

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Bakewell

But, on balance, Rachel feels the benefits of knowing outweigh the risks.

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Rachel

I felt that I could protect my children by being forewarned about what this gene could do. And the more I looked into the gene I started thinking, yeah, yeah maybe I should get the children tested for future things like x-rays, smoking, because they’re not good for this type of gene.

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Hansen

For people who are at a very high cancer risk, such as people with Li Fraumeni Syndrome, there is no clear evidence that suggests smoking, x-rays, obesity has a very significant effect on cancer risk, however, it makes sense for people to avoid any measures such as smoking or excess alcohol consumption which could potentially contribute to their cancer risk in the future.

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Bakewell

As their mother Rachel feels the decision is hers to make.

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Rachel

They don’t know my family and they’re not living in my family’s shoes. And because we knew there was a lot of this gene within the family I felt that it was always going to be part of our lives now.Ìý It’s not like my husband’s died and end of. There was a strong chance it was going to carry on in the children.Ìý So I wanted to know if my children had it too.

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Bakewell

Let’s return now to find out what our panel of experts think about how things are developing.Ìý Can I have just an initial response to what you feel about this – Richard Ashcroft?

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Ashcroft

We are faced with a slightly artificial distinction between the interests of the children and the welfare and interests of the mother.Ìý But I think it’s more natural to take the family situation as a whole.

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Bakewell

Gareth, what’s your response?

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Evans

Yes I mean I feel incredibly sympathetic towards Rachel’s position here and having someone so uncertain about everything unsettles the family, so there is detriment to the children if the mother is uncomfortable with where they are and not knowing how to move forward.Ìý And that has to be balanced against the fact that you’re going to have different outcomes in the four children – you’re going to have maybe two children without the gene fault, two with – they won’t be treated the same.Ìý And so it will create a divide between the way the children are managed and treated.

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Bakewell

But are there certain genetic disorders for which it’s easier to concede to the parents if they want testing?

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Evans

I think if there is any proven benefit to the individual child.Ìý So for instance in a condition where you develop multiple polyps you can target screening surveillance to pick up the polyps which will turn into cancers starting at around 12 years of age and then you don’t have to subject the children who don’t have the faulty gene to that sort of an intervention.Ìý Now there you have a clear distinction – there is benefit to both the child without the gene fault and to the child with the gene fault.Ìý In this situation we have no proven surveillance techniques to offer in childhood.

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Bakewell

So would you have a judgement that there are certain genetic faults that you would not test for at all?

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Evans

Yes, like for instance Huntingdon’s Disease, which is a disease of mid to late adulthood, there is no risk in childhood, there is nothing you can do and even if the parent is interested in finding out whether their children carry the faulty gene we would not under pretty much any circumstances offer testing for that.

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Bakewell

It’s a pretty bleak outlook, isn’t it Gareth, if you know you’ve got a Li Fraumeni gene and it’s hard to detect the cancers early, I mean is there any work being done on improving detection?

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Evans

There is a study that started in the UK called Signify where adults who carry faults in the TP53 gene are getting whole body MRI screening.Ìý And therefore is able to pick up potentially the malignant tumours that occur in the muscle and the bone and in the soft tissues, it’s able to pick up breast cancer, it’s able to pick up early brain tumours potentially.

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Bakewell

Is that likely to become available for children?

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Evans

The problem in childhood is that you’re going to need the very young children to do a general anaesthetic for them to stay still enough to go into an MRI machine and we definitely cannot justify that because there are risks with a general anaesthetic.

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Bakewell

Right, now I want to turn from the medical detail to the psychological background.Ìý Deborah, this is a matter of a mother who’s suffered bereavement, she’s worried about her children, surely the wish to have testing must be psychologically determined?

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Bowman

Of course she’s vulnerable and she’s been through a terrible thing but I would be very worried about pathologising her psychologically and suggesting that this is motivated by a grief reaction and wasn’t a free choice.Ìý We are all shaped by circumstances and one might argue that she has privileged knowledge that most of us don’t have.

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Bakewell

Richard Ashcroft.

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Ashcroft

The mother of the children is lucid and well informed and one has to weigh up what the different possibilities are.Ìý The no testing possibility leaves in a situation of considerable uncertainty, we don’t know how that will affect her parenting, we don’t know how that will affect the children themselves.

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Bakewell

It is interesting that over 50% of people who are told that they might have the gene don’t want to be tested as adults.

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Ashcroft

It’s actually reasonably well known across clinical genetic testing, including Huntingdon’s, quite a number of people who may be affected don’t come forward for testing and quit a number of those who do come forward for testing don’t return to collect the results.Ìý Now all of that speaks in favour of leaving this testing to the children when they approach maturity.

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Bakewell

Gareth Evans.

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Evans

The main concern with doing testing in childhood is that if the children test positive and it’s likely they will go throughout childhood without any form of cancer, at some stage they will have to adjust to the fact that they’re at extremely high risk of cancer – that probably won’t happen in childhood it’ll happen in their 20s when they’re starting to realise oh I’m going to have a family myself.Ìý And that could be – and I have experience of that in this particular condition – a really, really difficult adaptation.Ìý So there really are so many things going on here.

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Bakewell

So we’re living with genes now, it’s really changing our whole outlook on life.Ìý I mean, Deborah, there’s a whole business of the impact of testing that might have in the future – I mean lifestyle things like insurance?

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Bowman

Absolutely and I think it is interesting isn’t it this pursuit of knowledge and knowledge is neither good nor bad inherently, it’s what we do systemically and societally with that.Ìý The insurance industry, for example, hasn’t always been good and responsive and I think there’s something about the ways in which we use information but also share information.Ìý So I may be carrying lots of information about myself but I wouldn’t necessarily want everyone else to know and I wouldn’t necessarily want to disclose on forms. So I think it’s not so much about the information but the ways in which we are expected to us that information, share that information and the purposes to which we put it.

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Bakewell

Gareth Evans.

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Evans

The insurance companies actually are not regulated and they have agreed a moratorium now which has been extended from the original one in 2011 to 2017 where they will not use genetic testing information to calculate insurance premiums for life insurance and critical illness insurance unless it’s above a very high level.Ìý So at the moment it’s not a problem in terms of their test result, however it may change in 2017, there’s more and more genetic information coming out, insurance companies may feel they can’t hold that moratorium any longer and that would be problematic.

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Bakewell

It is a bit of a brave new world Richard?

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Ashcroft

That has such people in it.Ìý Possibly.Ìý One thing that we sometimes lose sight of is that parents generally do worry about their children and we’ve given them some new things to worry about.Ìý But whether parents have become more anxious as a result of the rise of the availability of different kinds of genetic testing probably not, I think the level of anxiety is more or less constant you just put it in under different headings.

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Bakewell

Well let’s go on with this particular story.

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The issue now is should the genetics team allow Rachel to have her children tested?Ìý The needs of each child have to be considered separately.Ìý The genetics counsellor.

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Genetics Counsellor

The age ranges of the children between 12 and two was important because the child at the older age could be part of that discussion but the younger child couldn’t.Ìý A two year old can’t consent to having a blood test taken, and why they’re having it done, whereas with the 12 year old you could include that person with an age-related conversation about what they knew about the condition and whether they thought they would want to know the result.Ìý We’re trying to look at the balance between what is right for one child but also right for the family, and that’s where I think it’s very challenging.

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Bakewell

This presents Rachel with a series of distressing decisions.

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Rachel

It’s hard because some of my kids are too young to make that decision for themselves and to even understand what testing is all about.Ìý I felt that the older children would have some understanding.

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Bakewell

So when is a child old enough to contribute to a decision about testing?

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Genetic Counsellor

A lot depends on what they know of the actual condition, what their experience is and also how the families have talked to them and explained things to them.Ìý But you would also look at the family dynamic.

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Bakewell

Rachel is open with her family.

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Rachel

I did say that I explained everything that was happening with Alan to the children and that they made their own decisions, you know whether they wanted to go to the funeral and things, so I felt that by explaining to them that I would like them to be tested they could then decide for themselves, whether to or not.

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Bakewell

Given the age range of the children, the team consider whether to test them in sequence, as they each reached the age of 12 say, so each child can be involved in their own decision. ÌýBut this can present problems.

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Genetic Counsellor

For example if all the older ones haven’t got it and the younger one is tested and if you look at nature as 50/50 they’ll start thinking well they haven’t got it so I have got it, or vice versa.Ìý And also you are the last one left not knowing your status and I think sometimes for the younger children they are often older in their years and they can feel excluded from family discussions.

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Bakewell

Rachel is worried about the consequences of waiting…

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Rachel

It could be too late. That’s how I felt, you know, who knows.Ìý Yeah, they could decide for themselves and some of them may not want to know whether they’ve got the gene or not and I do respect that, but I felt that the only way I could protect my children is by knowing in order for me to be forewarned if anything happens.

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Genetic Counsellor

Having met Rachel I felt that trying to test the children when they all got to say for example 10 or 12 was going to be a very drawn out prolonged procedure on top of what had been an extremely traumatic time for the family.Ìý But not everybody agreed with that decision.

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Rachel

I’m quite a relaxed person and we live each day as it comes and we try to enjoy it as best we can.Ìý I don’t believe in prolonging any sort of bad news or anything like that, so I decided I wanted to have them all tested.Ìý

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Genetic Counsellor

In Rachel’s case, our team were divided as to whether we should test the children at all, and then whether we should test them all at the same time or at which age we should test them. And it was at that point that it was suggested that it was sent to the ethics committee in the hospital to see if they could offer us some guidance.

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Bakewell

The clinical ethics committee finds this case particularly challenging.Ìý A key question is whether testing is in best interests of the children or the mother?

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Ethics Committee Man

I found it a very sad case.Ìý I did feel however that it wasn’t necessarily in the children’s best interests to have this done at this early age, because the family history was so strong that there would always be a very high index of suspicion by the GP, by the doctors, you wouldn’t necessarily need to know that the child was definitely positive or not.

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Bakewell

But others feel differently.

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Ethics Committee Woman

I thought it would seem quite harsh to tell a mother who had been recently bereaved ‘and we’re not going to allow you to have your children tested for the same condition’.Ìý Provided she was sufficiently informed, then we should prioritise her views about what she thought was in the children’s best interests.Ìý We also felt well at what sort of age would this information be useful, both for the mother but also how would that information be then imparted to the children and their different age ranges.

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Ethics Committee Man

Psychologically, it could be quite harmful for the children to be in effect ‘labelled’ by having this condition and it may get out to their friends.Ìý And it could really affect their upbringing in a major way.Ìý It might alter the family dynamics quite markedly if some of the children had the condition and others didn’t, and it was also taking away their right to make an informed decision once they reach the age of 18 as to whether or not they chose to have this test.

Ìý

Ethics Committee Woman

It seemed invidious to sort of separate them up and say ‘we know something about one of the children but not all of them’.Ìý Whereas often we would start from different perspectives, and through discussion get to some sort of agreement at the end, this caused us real difficulties.

Ìý

Bakewell

At this point we come to our final discussion – what do our experts think.Ìý Deborah Bowman, Richard Ashcroft and Gareth Evans.Ìý Gareth, you look after families with Li Fraumeni and I wonder what the impact of genetic testing in childhood has on them.

Ìý

Evans

Well there have been very few children tested and I have the experience in a family where we were sort of in a sense forced into doing it because a couple of cousins had been tested and you couldn’t have the precedent that one branch of the family could have testing in childhood and the other couldn’t.Ìý But in that situation I think the testing was beneficial for a long period of time, it stabilised the parental situation where there’s huge anxiety and even though the child tested positive there were no detrimental effects on the child.Ìý As I said we’ve got lots of experience of testing children for these sorts of things, not necessarily Li Fraumeni, in childhood and actually children cope very well with being tested at 10-12 and even earlier, it doesn’t really impact.Ìý There can be mixed messages, don’t go to school and say I’ve got cancer, and that can be a little bit worrying.

Ìý

Bakewell

But presumably it’s important to have children tested before they become sexually active because they would be passing it on?

Ìý

Evans

Sixteen you can get consent from the adolescent and the parent, certainly at 18 because this has such ramifications.

Ìý

Bakewell

Deborah.

Ìý

Bowman

And I actually think it’s not about age, I think it’s about function and I think that reflects what we know about adolescents making choices about their healthcare, deriving from the Gillett case.

Ìý

Bakewell

The Gillett case gave Mrs Gillett’s children the right to birth control didn’t it?

Ìý

Bowman

It did, although the principles are generalizable to other aspects of healthcare.Ìý And I think the principles are sound, they are about what a young person understands and what’s in their interests at a particular time, rather than whether or not they’ve reached a particular birthday.Ìý I think the other interesting thing that plays in here is that young people, where there’s illness in the family, will often have a much more sophisticated knowledge of a particular condition than one might expect for their age and Prinscilla Alderson’s work with really quite young children has shown us that even if legal consent isn’t possible the principles of assent should be informing what we do.

Ìý

Bakewell

Yes Gareth.

Ìý

Evans

Our experience when we do testing often at around 10 to 12 years of age for a number of conditions is that that testing is tied in with this early surveillance, early detection and actually the children find the results of the early surveillance much more telling than the genetic testing.Ìý And in this situation we’re not going to be offering anything, so it’s the test in isolation potentially which still may not have any huge impact on the child and there is a lot of evidence that the bigger impact is on the parents receiving bad news, particularly in the short term and then coming to terms with that bad news.

Ìý

Bakewell

Of course if the mother’s allowed to test her children it opens up another whole set of dilemmas doesn’t it, because these children are the age of two to 12 who’s going to decide when she tells them?

Ìý

Bowman

I think she will decide when she tells them and again I think if we’re prepared to and believe that – and I certainly do – she loves these children, she knows these children better than anyone, she will be well placed to judge when and how to disclose. ÌýBut of course disclosing to one but not others potentially gives one child knowledge that another doesn’t have, so there are all sorts of things to think about.Ìý But having heard from Rachel I believe that she will have thought about those things.

Ìý

Bakewell

But children talk to each other and have secrets and threaten each other and can tell friends – the ripples are huge aren’t they?

Ìý

Ashcroft

Yes they are and children, like adults, don’t always behave well.Ìý There’s really not much one can do about this.Ìý There are all sorts of ways in which - I won’t quote Philip Larkin about what parents do to their children - but the way in which living with uncertainty could be difficult for the mother and the children, living where the mother knows something that the children doesn’t know can also be difficult.Ìý I don’t really see any way round this.Ìý As to when you tell each individual child that depends very much on the child themselves as they’re growing up and their ability to cope.

Ìý

Bakewell

Would you think – agree with that Gareth?

Ìý

Evans

It’s extremely difficult and I wouldn’t say it’s their 12th birthday or anything like that.Ìý The one thing I would say is that if the children ask the question they’re ready for the answer.Ìý So I would be sensitive to the children asking the sorts of question which say I really want to know and if they do then that’s the time they should be told.

Ìý

Bakewell

So how much does the character of the parents influence whether you choose to test or not – what would you say Richard?

Ìý

Ashcroft

It’s a very difficult question isn’t it because we don’t normally like to take a view as to the character of the patient, make a moral judgement about what sort of person this is, though obviously that influences how you approach a consultation, how you speak to them, what kind of support you offer and so forth and so on.Ìý So we conveniently box it up and call it patient autonomy and say oh it’s up to you.Ìý But that doesn’t answer any questions.

Ìý

Bakewell

But Deborah you’ve got teenage children…

Ìý

Bowman

I have got teenage children.

Ìý

Bakewell

What would – what can you make of this dilemma for a parent?

Ìý

Bowman

Oh gosh, I mean I wouldn’t want to generalise for my own children but I think when you exist in a family it’s relationtional isn’t it, and so this idea of autonomy for each individual that doesn’t bump up against or isn’t informed by your relationships with those around you is a nonsense.Ìý And there are lots of things that I’ve decided for my children with their very best interests at heart with which they may not agree necessarily but I think there is a necessary understanding within a family that love and respect will generally mean you try to do your best and it may not be what other families do but it’s well motivated and I think in genetics, maybe more than any other area I can think of at the moment, this idea of individual autonomy and treating one person is really problematic if you want to get to the heart of the moral questions that we’re being asked to address.

Ìý

Bakewell

And Gareth you appreciate that too I’m sure?

Ìý

Evans

Absolutely, I mean in this situation we’re faced with a mother who has only a one in 16 chance that she’s going to get the good news that all four of her children are clear.Ìý So however it’s done unfortunately there is going to be a very high chance that there’s bad news along the way.

Ìý

Bakewell

Now you have to play the ethics committee and I want to know what each of you would advise in this situation.Ìý Deborah.

Ìý

Bowman

I’m quite surprised because I think normally I’m very much for children being involved in making their own choices but I feel immensely sympathetic to Rachel in this case and I do feel that the children should be tested altogether.

Ìý

Bakewell

Richard.

Ìý

Ashcroft

I ask myself two questions, one question is what Rachel should be allowed to do and the other is what I would do if I were Rachel.Ìý And my rather uncertain and tentative conclusion is that Rachel should be allowed to do what she is asking for and I have no idea what I would do if I were her.

Ìý

Bakewell

Gareth.

Ìý

Evans

That’s an interesting one.Ìý I personally wouldn’t want my children tested but I don’t think that that should take away from this situation where clearly you have a very distressed mother and I think the decision has to be a further discussion and if mother is absolutely adamant that may certainly in the short to medium term be in the better interests of the children.Ìý And I wouldn’t draw it out, drawing this out for this poor mother over four separate episodes and waiting another eight years for her youngest child to be tested could be deeply traumatic.Ìý So it’s all or none together.

Ìý

Bakewell

Right, let’s find out what happened in this real life medical case.

Ìý

The chair of the clinical ethics committee.

Ìý

Ethics Committee Man

We resolved the division by going down both routes to a certain extent in that we recommended firstly that the mother had the full implications of the decision to test the children explained to her.Ìý We wanted the mother also to consider whether it might be more appropriate to test them as they were older and could help with that decision-making. But ultimately the majority of the group felt that if she really wanted the testing, having undergone all of that, that she should be allowed to proceed with that.Ìý I felt that the mother would go ahead and want to have all her children tested but I also felt that that probably wasn’t the right thing to do.

Ìý

Rachel

It was left down to me as a parent to either get them tested or whether I wanted to leave it.Ìý I spoke it over with the family and we all said that we would like to find out.Ìý So I decided to go and test.

Ìý

Bakewell

The genetics counsellor

Ìý

Genetics Counsellor

I talked to Rachel about how she would prepare the children.Ìý The older ones would need to be aware why they were coming and that we would talk to them about why we were taking a blood sample in a language they could understand, in that we now knew that their daddy had a condition that could affect them and that if we knew that they were at risk then they would know when they needed to tell her if they weren’t feeling well so their doctors could keep a close eye on them.

Ìý

Rachel

I told the children what they were going to be tested for.Ìý The older ones they decided whether they wanted to go ahead and they could change their mind at any time.Ìý They were obviously more understanding, I mean I didn’t go into too much detail because I didn’t want to bombard them with all this science.Ìý The younger ones, they didn’t have a say in it really, but yeah – they all went ahead and had it done.

Ìý

Genetics Counsellor

Rachel brought the children in one by one and we went through the consent form for each one.Ìý Checked the name, date of birth, all those details and talked to the children for whom it was relevant and then took their blood sample.

Ìý

Bakewell

Two weeks later Rachel attends the clinic with her father to get the test results for each of her four children.

Ìý

Rachel

There was always going to be a chance that half the children would have the gene.Ìý And some have tested positive.Ìý I was devastated because more than half are affected.Ìý So unfortunately for me this gene is going to be in my life forever, and its complications.Ìý I thought maybe if I didn’t have kids but that’s the past and I certainly wouldn’t be without the children.Ìý We just take each day as it comes and I don’t wrap them up in cotton wool, you know, I’m not going to start saying ‘oh, be extra careful’. It will be on their medical notes to make the doctor more aware.

Ìý

Bakewell

The child who have tested positive have a check-up each year with a paediatrician.Ìý Rachel recently told her eldest child which of them have the condition.Ìý She will tell the others when they are old enough to understand and when the time feels right.

Ìý

Rachel

Well the way I look at it is there’s no point worrying about it unless it happens. I feel that I have got possibly a good 10 years before any of this is mentioned again.Ìý Obviously it’s going to be at the back of my mind, but yeah, I’m not going to start approaching the subject again until then.

Ìý

ENDS