Introduction

I have been asked to write this article following a presentation I gave at the XIIIth International Cystic Fibrosis conference at Stockholm. That paper focused on some of the ethical issues raised by improvements in quality of life when combined with moves towards greater prenatal testing and screening for genetic conditions.

This article draws on early findings from a wider on-going study that investigates the understanding of genes and genetic processes, and the bio-ethical implications of advances in genetic technology.

These advances in the science of human genetics are expanding the ability to directly test DNA to determine predispositions for an increasing number of genetically influenced health conditions. These advances also enable us to determine whether an individual may be a carrier of a genetic irregularity although having no vulnerability to the disease in question.

"…principles such as respect, autonomy, consent, and confidentiality."

These advances raise ethical, social, and legal issues that can be seen as qualitatively different from those raised by non-genetic diseases. We can however use the same moral principles to examine the issues as we would in other health-related dilemmas; principles such as respect, autonomy, consent, and confidentiality.

I have focused on these issues at the individual level by talking to people with genetic conditions and to carriers of the faulty CF gene; people who are both directly affected and who are making decisions about the potential next generation of people with CF. However, the wider implications of individual choice and the social pressures under which people make decisions are also relevant to the debate.

Individual issues

At the individual level some of the questions that need to be considered focus on the rights to autonomy, the responsibility of making difficult decisions, and quality of life issues. It is not always easy or straightforward to take personal decisions. For example, there is currently much debate about the extent to which genetic counselling is or is not directive [1, 2] and questions are raised concerning the equality of doctor/patient relationships [3]. Second, the social and economic conditions that we live in restrict freedom and action in different ways and limit options [4-7]. Finally, when one is trying to make decisions the information that is available to draw upon may not always be accurate or up to date.

"…there is a lack of insider perspective from people with disabilities."

The individual quality of life experienced by those with genetic conditions is less often widely known [8] and there is a lack of insider perspective from people with disabilities. Some researchers claim that this lack of insider perspective for people with disabilities can be offensive. To have someone else look at a life from the outside, and make judgements about how fulfilling and how happy that life is, might be insulting to people with specific disabilities [9]. This point highlights how the wider position in which people are situated can influence their decisions.

Social issues

"…it might lead to a society where disability and sickness are tolerated less well…"

Turning now to look at some of the important issues at this wider level, there is concern that society may come to view disability and normality through an altered perspective brought about by the ability to examine our genetic legacy and to potentially alter it. It has been suggested that if this were to be taken to extremes it might lead to a society where disability and sickness are tolerated less well and where funding for those with disabilities is limited [7, 10].

Some might argue that advances in this direction revive thoughts of eugenics (improving the quality of the human race). This view is further reinforced if we agree that the talk that surrounds genetics these days can be deterministic and discriminatory or largely misunderstood by non-specialist audiences [4, 11-13].

In the current context it is worth noting that eugenics had 2 features in particular. One was that a concern for future generations dominated the interests, autonomy, and rights of those currently alive. The second was the concept that the interests of mankind as a whole were considered to be more important than those of the living individual, or indeed of potential unborn children [14, 15].

Certainly, we can note that there has been rather less in the literature about what it is like to be disabled, or to live with a genetic condition, and that perhaps potential children are being considered without due regard for the rights of the living. It is rare to hear the voices of people affected and there is ignorance about what it is like to live with a condition [3].

"…everybody thinks that genetic disease involves a terrible life and an early death…"

The public image of CF suggests that the impairment is dreadful [16]. It follows then that if everybody thinks that genetic disease involves a terrible life and an early death, then prenatal testing is thought necessary and termination is the only possible response. This can also mean that making decisions in opposition to the status quo is more difficult [8]. Two factors are important here for people with CF: the fact that there can be wide variation in individual quality of life in CF; and that it is difficult to predict what this will be from a genetic test on the unborn child.

The confident claims of scientists and the cautionary words of disabled groups should not necessarily be placed in conflict with each other though; extremes in either view are not helpful. Tom Shakespeare, a key writer in the disability field, suggests that there should be greater dialogue between the often gloomy, hostile, and suspicious disabled organisations and the generally upbeat, confident, genetics establishment, thus leading to a truce [17].

If prospective parents and their medical advisors do not get their information from looking at the lives of disabled people, then from where do they get it [8, 9, 18]? It is in the light of this last point that the current study is grounded. It is grounded in the experiences of individuals living with CF either as patients, or carriers and carers. The use of two different methods of collecting and examining data in this study allows the voices of people living with CF to be heard and highlights some ethical dilemmas through an examination of their subjective quality of life compared to a stereotype or public image of someone with CF.

The study

The pilot work in this study involved a group of 10 adults with CF (4 men and 6 women) and 4 carriers of one variant copy of the CF gene (all women). These individuals provided data on topics ranging from quality of life, public images of CF, wider implications of advances in genetic technology, to emotional and psychological issues faced, and perceptions of the body. The results that focus on the body were collected by completion of a body chart that asks participants to think about their bodies in terms of various descriptive words and phrases on a scale of 0 - 3. The body is considered from 5 different perspectives, but I will only show the results of the comparison between the self now and the stereotype image of someone with CF in this paper as this is important in the context of the information that people use to base decisions on.

The body chart data is analysed using a statistical programme (SPSS) and the interviews were transcribed and analysed by drawing out the important themes.

Results 1

Several related themes were identified in the interview transcripts. Here I report those that centre on the contrast between an inside and outside perspective. Different respondents in the group often articulated contrasting views and sometimes held 2 conflicting views in their own minds at any one time which reflects the complexity of the debate and the fact that difficult ethical issues often cannot be solved easily.

The respondents often agreed that the public view of CF is outdated and mostly negative.

"I think they expect them to be very sickly."

"Because they, the public, would expect to see a CF with some visible signs of illness and sometimes they have, but sometimes they haven't."

"For me I think the biggest thing is the time constraint. The fact is because I've always grown up with it, it actually isn't as big a thing as probably people looking in from the outside see it is."

The participants acknowledged that there is considerable variation in quality of life with CF and they put themselves at a fairly positive overall level of quality of life.

"I mean I know there are different types of gene. You either have one strain of CF or another, and you can see by the people that come here. If they're adults they've obviously got the gene that's not so, the chronic, you know the main gene. Whereas a lot of people my age, who are this bad, have obviously got the bad one."

"There's a couple of lads you see in here once a year and their blows are like 6%, well mine's only 1½, … because there are different degrees of CF, they're only like 5% I suppose, whereas I'm like 95% CF. I don't know, what medical terms you'd use, but yeah, they're going to get 6% because they do sport, they run around here there and everywhere and they can. And there's nothing wrong with them, they don't take enzymes or anything like this."

Carrier Mum: " In some ways it makes it even more difficult, because if he'd been a sick child and he'd had a miserable life you know, it makes it… You know you wouldn't want to put somebody else through that. But even if he gets sick tomorrow, then he's had 10 healthy years, It's all about quality of life really. Isn't it."

There was also an acknowledgement that any decisions to be made following prenatal testing may be more difficult in the future because the advances in medication and treatment technology will influence quality of life of people with CF.

"The foetus, maybe it could have been fine and it would have been very happy to have been alive but perhaps it's better that it wasn't. It becomes an increasingly grey area because of improved treatments and where do you draw the line?"

Finally, one further point needs to be noted in regard to the impact that prenatal testing and potentially changing societies can have on the individual with CF. It was acknowledged by a small number of respondents that advances in genetic testing technology could make them feel that they should perhaps not have been born.

"It affects me very, very deeply, it upsets me deeply to feel that society doesn't want people like me around… Because I feel very deeply threatened by the whole thing. That my genes are considered to be inadequate or inferior or whatever, not good enough and so that's a good reason to abort foetuses that carry my genetic make-up. It's fundamental, it really is fundamental to who you are, what your genes are."

Carrier Mum "So yes it's an issue that we've all talked about I think, and Jack is fairly pragmatic about it and he's said, you know if you could have a baby that doesn't have CF, then that's obviously preferable to having a child that does. But I don't know that he's particularly thought about, that we would have perhaps terminated this pregnancy if it had (tested positive)."

Alternatively, the consensus view from other respondents was that it was acceptable for a parent to terminate a pregnancy if it were found to be positive for CF.

"If people find out at the early stage of pregnancy, their child's got CF, if they feel that it's the right thing to do, I really don't have a problem with terminating, I completely understand."

"I would not put another child through what I go through. Not fair. Admittedly yeah things have got better and I've only seen it from my life's perspective, but yes there are still children that are being born and not lasting months with it."

Results 2

As part of the interviews, respondents completed the body chart and the results from this were analysed using statistical tests. Two views of the body were compared, the "self now" and "stereotype view of someone with CF" comparison. What comes out from this analysis is that the perceived "stereotype" is highly negative and that the "self now" score is much more positive.

This contrast is shown on the graph below where high scores represent a more negative view. Only the constructs where statistically significant results were found are shown.

A comparison of the "Self Now" body image
compared to the "Stereotype"

Body Image constructs - Appearance, Robust or Gaunt, Health; Ease of Movement; Predictable functioning of the body; Body controlled by genes; Strength; Energy; and Visible signs of illness.

Discussion and Conclusions

"…the need for greater public awareness of what it really is like to live with CF."

The results from the interviews and the body chart support each other to some extent with the respondents saying that their quality of life is currently good, yet acknowledging that the public view of CF is rather more negative, so perhaps reflecting a less up to date picture (people with CF being perceived as very ill, usually thin, weak and with obvious visible signs of illness). The respondents nearly all reiterated the need for greater public awareness of what it really is like to live with CF.

The interview themes illustrating the variability in quality of life show how decision-making may become more problematic in the light of treatment advances and suggest that more information is needed in order that people making decisions in the future can base these on accurate knowledge.

This preliminary work highlights some complex ethical dilemmas relevant to advances in new genetic technology and illustrates that technology may bring both benefits and disadvantages to individuals and society. This article presents the pilot work from the study, but having now completed more interviews it is clear that these early findings are largely replicated in the wider study, the results of which will be presented at other conferences in the near future.

I would like to acknowledge the support of the consultant and staff at the clinic who have helped me with recruitment of participants and also, of course, all the respondents who have taken part in the study.

Dr. Elizabeth Chapman
Wellcome Trust Research Fellow in Biomedical Ethics
Centre for Family Research
University of Cambridge

Editor's Note: For a list of references contact us: editor@cfww.org