MEMBERSHIP

Woody Guthrie’s son and Huntington’s disease

MR BARNES: Thank you, Julie. As often happens here, I get the chance to ask the first question. I hope you don’t think that I am trivialising this, but the most famous person I can think of who died from Huntington’s disease was Woody Guthrie. Now, put yourself in the shoes of his son, Arlo. His father has just been visited by Bob Dylan, he has probably written Alice’s Restaurant and the motor cycle song and he is about to take Woodstock by storm. He is still a relatively young man. If it was available then, would you go and have the test to see if you are going to get Huntington’s disease, knowing that there is nothing that can be done?

DR SKINNER: Are you asking me?

MR BARNES: I am.

DR SKINNER: No.

Would those who refuse a test suffer more psychologically?

MR DAVID BENNETT QC (Legal): I have a question to put to Dr Skinner. I was interested in the question asked at the beginning of the evening which divided us into two groups, those who would and those who would not have the test. I am interested in knowing whether there is likely to be a correlation between the group that said they wouldn’t have the test and those who would be likely or more likely to suffer psychological damage if told.

DR SKINNER: From the research, it is hard to know because there are no studies on people who don’t have the tests, but I really don’t think so. I think that the people who say they will have the tests feel that they are able to cope and that they are better able to plan and make decisions; but the evidence for that is not there. The facts say they are perhaps just as likely to crumble, but we don’t know about the other group because they have never been researched.

MS HAMBLIN: It would also be interesting to research the effects of being asked to take the test and deciding not to, and whether that in itself has a harmful effect, as opposed to never being told that the test is available.

DR SKINNER: Certainly, yes.

Grounds for taking informed consent to court

DR JULIAN LEE (Medical): A couple of things. A few years ago, Ron Trent, addressing the Society on the issue of genetic testing, referred to Huntington’s disease. It is a highly dramatic condition which Eugene O’Neill dramatised many years ago in a play, ?Strange Interlude?, probably back in the 1930s or 40s, but I really wanted to ask Julie for more information about the nature or grounds on which the informed consent issues were tested in court. What would have given rise to that sort of claim? Presumably this claim was made on more than one occasion. Why did it come to a court hearing at all?

MS HAMBLIN: As I said, there are very few cases that have considered it, or that I was able to find. There is one South Australian case where a woman had a very serious psychiatric condition and had been prescribed higher than normal doses of the drug Melleril. She had not been told that Melleril in those high doses carried a risk of eye damage and she sustained that eye damage. In that case. it was found to be acceptable that the doctor had said that her psychiatric condition was so serious that he felt he was justified in not make that disclosure, and that was upheld.

There is a criticism of therapeutic privilege: that it leads to a circular argument, because if what you are saying is ?I don’t want to tell the patient about the side-effects because it will make the patient not agree to have the treatment and I think the patient should be having treatment?, then you are just subverting the whole philosophy underpinning informed consent to medical treatment. So it is a doctrine much criticised in the literature. I suspect that is the reason why it probably isn’t upheld a great deal.

I came across another interesting South African case when I was reading some articles for tonight. It wasn’t a negligence claim; it was a disciplinary action brought against a doctor for failing to tell a pregnant woman that she had HIV. He told the disciplinary hearing that he had only come into this knowledge a month or so before she was due to give birth and felt that it would have been unduly distressing if he were to disclose that information to her. The case report which I read didn’t go into the issues that were in my mind about whether or not there might have been something practical that she might want to do with that information in terms of transmission to the baby, mode of delivery and breast feeding etc., but the conclusion by the disciplinary body was that the decision of the doctor was not so grossly inappropriate as to warrant a disciplinary action. That is the range of this sort of cases.

Psychiatric counselling before genetic testing

QUESTION: In relation to Huntington’s Disease, my understanding is that all patients have psychiatric counselling before they are about to take the test.

DR SKINNER: Yes, that’s true.

QUESTION: To sort out the ones that might not be able to cope with the results.

DR SKINNER: I am glad to hear it.

QUESTION: The comment I want to make is that in my practice one can easily persuade a patient to have a treatment or not have a treatment just by giving them good disclosure or by not doing so. If you give them information on, say, a drug which has 300 side-effects, they won’t take it. If you want them to have the treatment, you just give them a few selected side-effects.

DR SKINNER: It is the spin you put on it, I suppose. You mentioned counselling. With Huntington’s, I am not sure how a counsellor can make it easier for someone to cope with that information. I know that they have counselling, but I think that the counselling is about understanding the risk. In the case of genetic risk, they are counselled about statistical probability and what that means and also about what prospects they have got of getting further testing and treatment if it is available.

In the case of Huntington’s, it is explained what the test will involve and what the test will show and they are asked, ?Do you really think you want to go ahead with this?? And as I said, research has shown that people tend to be more optimistic and generally think, ?I am a very happy, outgoing person. I am not the kind of person who will get Huntington’s, or if I do, I will just cope with it. I can make plans for my life”. But, in fact, people don’t usually cope as well as this. So I don’t think that genetic counselling can actually be helpful with that, although they can explain the tests to them and so on.

Are we over-reacting when the risk is small?

DR BARRY CATCHLOVE (Medical): Some years ago I was involved in a hospital which recalled 150 patients because of a partial breakdown in sterilising its instruments. The independent advice we had was that the risk was somewhere between negative and minimal. We recalled 150 patients and there was psychological harm to a number of people who were just coping with life. It was awful. Not one case of AIDS or Hepatitis-C was discovered. Similarly, in Melbourne recently, or a couple of years ago I think, they recalled a huge number of patients because they were at a very dubious risk of some transmission of CJD.

I suspect that, in both cases, the motivation for doing that was nothing about a duty of care; it was about protecting your backside from the potential exposure. In both cases, had there been some independent group, and I guess an ethics committee in the public sector might play that role, who could make some value judgment as to the risks involved – and it prompted me to ask, and I think you raised the issue, had we only known there would be three cases of CJD from growth hormone, would we have done the same thing? I suspect now we would because that risk is so great for the people involved that they feel that they have to disclose it.

I wonder if you would comment about whether it is conceivable that some independent group could take some responsibility for the course of action?

MS HAMBLIN: I think either an independent group or some independent guidelines that people can turn to. I actually disagree with you about the CJD issue, because I think that, if they had known at the time that there were only going to be three cases, it would have been very hard to justify the contact tracing program, because there was nothing people could do with the information. The information was of no practical value to them. All it meant was that they would worry about whether or not they were going to contract the condition. It was not transmissible to family members or casual contacts. My own view is that with the knowledge we have now, one could not have justified the response that happened then.

But in terms of your practical suggestion, I agree. I think that there are various ways in which we could formulate better policy in this area. The problem we have at the moment is that there is no policy in the area. So hospitals like yours, when faced with a problem such as you have described, have to deal with it, and from my experience in having been involved in a similar decision in relation to the HIV-infected obstetric registrar, it is very hard to make those decisions in the pressure of the moment where there are some very emotional arguments that can be put forward.

So I think anything that can inject some level of rationality into the decision and provide some guidance – an independent body, would there be enough work to justify an independent body? I don’t know, but certainly it would be possible, because I think if you have some accumulated experience of the decisions, then you can look back at previous decisions and say: ?Did we get it right that time or not??

Where can doctors seek advice?

MR PHILIP GREENWOOD (Legal): Just picking up on the advice point, is there no procedure presently in place where a doctor. thinking that information in the doctor’s possession would damage the client disclosure, can go and say, ?This is my reason. This is the information. This is what I think I should do. Do you agree??

MS HAMBLIN: You mean information that a doctor has about someone other than the doctor’s patient?

MR GREENWOOD: No, about the doctor’s patient. The doctor thinks the patient should not be given the information, but the doctor is concerned about that. Can the doctor not get a clearance from some ethical committee?

MS HAMBLIN: I am sure that the Public Health Branch of the Department of Health gets queries of this kind from time to time and would field them as best it can. I suppose that, if the doctor is in an institution with an ethics committee, then it is an issue that could go to that committee, but I am not aware, other than that, of any body designated for that purpose.

What about diseases carried on recessive genes?

MS ANGELA WALSH: Could you both give your views – you talk about autosomal dominance disorder. I am just wondering if your views change as a result of the testing for the disorder changes when inheritance of the disorder is determined by recessive genes?

DR SKINNER: No. Both the genetic risk and the possibility of the patient contracting the disease are different. If the gene is dominant the person, if they have that gene, will inevitably have the disease. If it is recessive, then it depends on the gene being expressed another way in other members of the family. So you really have to look at the whole family tree, which is the way that it has generally been done by insurance companies in the past. With the expression of the gene, with the recessive gene it isn’t always the same, whereas if it is dominant it means it is going to express itself and the person is going to get Huntington’s. With the recessive, you are not so sure, so it would alter the probability, and you are just concerned with statistics. That is why I brought up Huntington’s.

MS WALSH: From a medical point of view, should the treatment be the same or not?

DR SKINNER: From a medical point of view, from the point of view of advice, it would be different because the risk wouldn’t be as high. But what I am saying is that with Huntington’s disease, if you have the gene you know you are going to get the disease. You have seen your mother, who was a wonderful parent when you were a child, deteriorating into this really weird person with all sorts of bizarre involuntary movements and shouting, and you are definitely going to get this yourself, probably when you are in your 40s. If it is recessive it wouldn’t be expressed as clearly. What I am saying is that you are into a whole different thing and you don’t go into the area of genetic risk that I was talking about with other diseases.

Huntington’s showing earlier in succeeding generations

DR LEE: Could I just make another point about Huntington’s disease relevant to the discussion. Huntington’s tends to ?anticipate? in succeeding generations. If the first person in the profile of the family develops it in their 40s, the offspring will get it earlier, and that goes down the line, so it does actually burn itself out. But there is another form of Huntington’s which is just a mutant. It just comes.

DR SKINNER: That is true. But the mutant is very rare and, as you say, if it is in the family, then the probability is there but it is not certain until you have the testing. That was the problem as I understand it with the person who had a problem with insurance. He had the test for Huntington’s and it was negative, which means that he would not develop this disease, but when he went to the insurance company, they took the family tree and said, ?Your risk is quite high. We won’t insure you or if we do we will insure you at extremely high rates?. This went to the Anti-Discrimination Commissioner and was still being argued the last time I heard. So even though this is a definitive test, the insurance company was saying, ?No, we don’t do it that way. We look at the genetic profile.?

The other thing with insurance companies is that they ask the question ?Have you ever had any genetic testing?, and if you say ?yes?, they say, ?Tell us the results?, and there has been a lot of argument, and there is still argument going on about this, whether this should be legislated against. The insurance companies say that you have to look at the overall risk, and they will get this information from the testing. So it is quite a problem. Some people have decided not to have the tests on the basis that they fear insurance policy problems and so on.

Can insurers legally ask about genetic testing?

DR PETER ARNOLD (Medical): I thought that there was a move to make it illegal for insurance companies to ask about genetic testing. Is that the case in Australia? I think it is the case in the UK.

MS HAMBLIN: It is also my understanding. The Australian Law Reform Commission has handed down a detailed report on that whole area with various recommendations and I believe that is one of them. I am not sure where it has got to in terms of implementation.

MR BARNES: We have run out of time. Before closing, I am sure that you will all join with me in thanking our speakers for what has been an excellent and thought?provoking presentation.