Genetic Counselling

Practice and Principles

Angus Clarke

• Publisher: Routledge
• Year: 2006
• eBook ISBN: 9781134890576
• Topic: Philosophy
• Subtopic: Philosophy History & Theory

Contributions to this study are drawn both from health professionals engaged in genetic counselling and from observers and critics with backgrounds in law, philosophy, biology, and the social sciences. This diversity will enable health professonals to examine their activities with a fresh eye, and will help the observer-critic to understand the ethical problems that arise in genetic counselling practice, rather than in imaginary encounters. Most examinations of the ethical issues raised by genetics are concerned in a broad sense with the application of new technology to human reproduction. This volume focuses on genetic counselling and screening as such, providing valuable insights for the health professional, social scientist, philosopher, lawyer, and bioethicist.

Chapter 1

Genetic counselling

A medical perspective

A.Caroline Berry

INTRODUCTION

Clinical genetics is an unusual branch of medicine as it draws on the resources of high technology (gene sequencing and manipulation) and attempts to apply these to the problems of those who, through life's random chance, are at risk of genetic disease in either themselves or their offspring.

The geneticist acts as interface between the two, first explaining the technical aspects to the people concerned and then endeavouring to work out with them what actions they wish to take. Where an individual is at risk of developing malignant disease and early diagnostic procedures are available then the way forward is relatively straightforward but where the decisions are concerned with reproduction there may well be a number of options available. The geneticist's role is to work through these with the potential parents and try to sort out with them the best way forward.

For the geneticist to fulfil this role satisfactorily, first and most obviously there is a need for an accurate diagnosis, accurate test results and accurate interpretation of these findings. As genetic diseases are often rare, there may be a need for detailed library searches and access to appropriate computerized databases. This is particularly important in view of the very rapid progress being made in the field of gene mapping and identification. A disease for which no molecular test was available last year may well be established as readily detectable this year.

For the geneticist there is another very important aspect that will need to be explored and that is the nature and needs of the person or couple requesting the information. In order to make the detail of the high technology tests available to those who usually have little technical knowledge it is important to communicate in a way that is appropriate so that the people concerned feel neither patronized by being talked down to nor overwhelmed by technical jargon. Preliminary discussion will usually provide some clues to the most suitable approach. Decisions about reproduction are not made solely on the basis of logical, scientific factors (Frets and Niermeijer 1990) so it is important to discover what aspects are paramount for the couple concerned: have they already decided that whatever the risk they are going to start another pregnancy (or have already done so) as the only way they can see of restoring self-esteem? Or is their confidence so devastated by a recent tragedy that they feel unable ever again to face the uncertainties of another pregnancy? What are their views on abortion? Who is the decision-maker and how do the couple relate to one another? An understanding of recessive inheritance may lead to the spontaneous comment: ‘If I had married anyone other than you this would never have happened.’ Where studies involving the wider family are likely to be necessary these relationships need to be explored too. Some families are close and supportive but in others there are long-term estrangements and dark secrets where there must be serious concerns about the effects of invasion of privacy and rekindling old ‘forgotten’ memories.

These ramifications of clinical genetics can inevitably give rise to ethical dilemmas and most geneticists will, if they analyse their daily routine, find numerous examples regularly arising. Most departments and individuals develop semi-standard ways of handling these and only call for debate as some new situation arises. However, it is important to review beliefs and practice regularly as there is no place for complacency. There is constant change not only in the technical aspects but also in the attitudes and expectations of those requesting advice or information.

Despite the uniqueness of clinical genetics, with its emphasis on personal choice and its involvement with families rather than individuals, the ethical problems that arise can be considered under the classic medico-ethical headings of:

Truth-telling

Abortion issues
Confidentiality
Autonomy

TRUTH-TELLING

Clinical geneticists par excellence are a group of doctors who believe they should give truthful answers to those who question them. If a couple want to know their risk of having a disabled child, the geneticist will give them as accurate information as possible irrespective of whether this is good news or bad. The consultands can only make informed decisions if they have been fully informed. This sounds self-evident and is usually straight-forward but there are a number of occasions when tensions arise because of conflicting interests.

The geneticist's personal concern

There are numerous occasions where the geneticist is unable to give a couple an accurate recurrence risk. If they have a child, or have lost a fetus, with certain abnormalities, a recessive syndrome may be the cause (with a 1 in 4 risk of recurrence). On the other hand the features may be atypical or may be so non-specific that their combination may well be a chance event. The geneticist must endeavour to give the couple as accurate an outlook as possible, remembering that it is as serious an error to give a couple an incorrectly high recurrence risk which may deter them from further pregnancies as to give them too low a risk, resulting in their having a further affected child. It is the latter event which is likely to damage the geneticist's reputation so the geneticist has to guard against giving elevated recurrence risks for self-protection. Fortunately, as prenatal diagnosis becomes more widely applicable such negative undercurrents have diminishing importance.

The impact on the affected individual

This is particularly acute with dominant conditions for which prenatal diagnosis is available. An individual who is only mildly affected with, for example, neurofibromatosis needs to know the full range of the gene's potential manifestations so that he or she can decide whether or not to take the 50 per cent risk of transmitting the gene to a child, or whether to request prenatal diagnosis if it is available. The fact that this is even suggested can be an affront to the self-esteem of the person affected, while the list of complications, if they are being heard for the first time, can give rise to considerable anxiety about personal health. This is further discussed below under ‘Necessary versus unnecessary truth’.

The impact on parents of an affected child

If prenatal diagnosis is available for a condition such as cystic fibrosis which can be very variable in its severity or in the case of a very rare disease of which parents can have had no experience, there can be tension between the attitudes of paediatrician and geneticist. For the paediatric management of the child it may well be correct to adopt a positive attitude and to focus on the treatable aspects of the disease, perhaps avoiding mention of some of the untreatable complications that may arise. The geneticist, discussing the 1 in 4 recurrence risk and the availability of prenatal diagnosis, will need to give full details about the possible burden of the disorder and its complications. This can be particularly difficult when parents are still coming to terms with the diagnosis of their affected child and may have had no experience of the progressive nature of some diseases. The geneticist needs to keep fully informed about the effectiveness of new treatments and yet to remain realistic where these are still potential rather than recognized and evaluated procedures.

Sometimes family support groups, with their opportunity for meeting with other parents and learning from their experiences, may provide a better way of becoming acquainted with the truth than medical discussion.

With rare disorders even this may be difficult to arrange and it is also important to be aware of the impact on parents of seeing children well advanced in the course of the disease affecting their child. Parents visiting a school for the physically disabled may for the first time realize the full implications of the diagnosis of their son's Duchenne muscular dystrophy.

The dawning of such understanding cannot be forced and there may be times when the geneticist has to accept that parents may be unable, even at the subconscious level, to understand the full truth of what they are being told.

Necessary versus unnecessary truth

The geneticist must be careful to see the information from the client's viewpoint and be as sure as possible that what is being said is not only true but also useful and necessary. It is necessary for a person with Von Hippel Lindau disease to know that they are at risk of developing renal carcinomas and retinal lesions which, if untreated, can lead to visual impairment. The person concerned should be encouraged to attend regularly for the appropriate screening tests but these necessary words of explanation and instruction, if absorbed, remove the client from the world he or she normally inhabits and into a different, hospital- and medically-orientated world. Thus the genetic diagnosis brings a lifelong shadow of ill-health and high risks of having an affected child, with consequent heart-searching prior to starting a family, or guilt if children are already born. On top of this is the impact on the spouse, or, if there is no partner, loss of self-esteem and desirability as a potential partner. Chapter 3 is devoted to the problems associated with Huntington's chorea but other disorders can have as serious an impact. In fact, with a more variable condition such as neurofibromatosis the geneticist's difficulty can be more acute since he/she knows that only a proportion, perhaps 20 per cent of those affected, will develop serious problems; many are consequently made anxious unnecessarily. As our knowledge of the human genome increases, however, our predictions should become more accurate. On the other hand, with the increasing importance of cancer genetics and interest in other forms of screening for pre-symptomatic disease predisposition, the number of individuals whose lives will be affected is likely to increase rapidly. In each case the importance and usefulness of the genetic information to be imparted must be balanced against the potential harm it will cause by engendering stress and anxiety.

Genetic information may blight not only the lives of the young: it may also have a major impact on older people, and this needs to be considered carefully before blood samples are collected from grandparents and other relatives in any family study. There may be times when samples can be taken on the understanding that no results will be given. Often this is not practicable because if, for example, one grandparent is found to be a chromosome translocation carrier, then it is that side of the family that should be investigated further. Individuals usually request test results and if these are available it is unreasonable to withhold them. However, their impact must not be underestimated. For example, the grandfather of five young grandsons recently diagnosed as having Duchenne muscular dystrophy heard that he was a germinal mosaic who had transmitted the mutation to all the boys. There may be times when imparting such a truth can be avoided but whatever occurs it is essential that those involved are aware of the impact their words may have.

Suppression of the truth

On other occasions it may be the family who want to suppress the truth. Sometimes, as discussed above, this may be involuntary and part of the denial process, but on other occasions it may be quite deliberate. Parents may claim to be unaware of the need to inform their children of genetic risks or may deliberately suppress the facts. This can cause particular difficulty for those who practise arranged marriages. If a girl is shown, for example, to be a carrier for Duchenne muscular dystrophy, she may become a liability to her father by being potentially unmarriageable. The family may refuse testing until after marriage. One father, whose teenage daughter was tested and found to be a carrier, responded to this unwelcome news, ‘We must keep this a secret mustn't we?’ It was only possible for him even to discuss this further with a geneticist of his own ethnic background, and such a person is not always available.

Great sensitivity is needed when culture and tradition give women a low status. For a woman to find that she is a ‘gene carrier’ of any sort may result in loss of husband, security and status. This can even occur with heterozygosity for a recessive disorder (Naveed et al. 1992).

Thus, though telling the truth is fundamental to communication in clinical genetics, the geneticist needs to tread carefully and think ahead lest the truth does more harm than the genetic disorder might.

ABORTION ISSUES

Although in the future clinical genetics is likely to involve treatment of genetic disease and prevention of disease in those at risk, at present prevention is very dependent on prenatal diagnosis and selective abortion of affected fetuses. Couples at high risk of having seriously handicapped offspring may decide to have no children but this is quite unusual and where a prenatal diagnostic test is available the majority of couples make use of it. This, perhaps surprisingly, often includes couples who, until faced with the problem, would have considered themselves opposed to abortion.

The abortion issue is an emotive one but is very much part of the clinical geneticist's daily round.

Discussion prior to pregnancy

Appropriate requests

When parents are seen for counselling following the birth of a child with malformations or handicap, the majority ask whether a prenatal test would be available in a future pregnancy. If such a test is available, the couple need to be asked whether they have thought through the implications and how they would respond to an abnormal result. To many the answer is self-evident: they would request termination of pregnancy and when the condition is seriously handicapping no further ethical discussion is necessary. Some couples do not find the answer easy or obvious. Even though the condition is well established as warranting termination, a couple with, for example, a child with Down syndrome may feel disloyal to their living child if they request abortion next time. It is important to talk the matter through, though a decision will need to be left until a later date, particularly if the child concerned is still young and the parents are still coming to terms with the diagnosis.

Inappropriate requests

On other occasions parents may request prenatal diagnosis for what seems, to the geneticist, to be an insufficiently serious condition, such as, for example, cleft lip and palate. Ultrasound can be used to identify clefting in the second-trimester fetus but most parents, when they think about it, decide that they would continue the pregnancy even if the abnormality were found again, particularly if their affected child has had a good repair. Some will still prefer to have the investigation done so that they will be forewarned of the baby's appearance if it has reoccurred. The first sight of a newborn with severe cleft lip can be a very shocking and unforgettable experience for a parent.

Men with haemophilia sometimes request prenatal sexing and termination of female fetuses so that they can avoid having carrier daughters. However, careful discussion of the implications of being a carrier usually results in the couple viewing daughters more positively. This is a situation where choice of sex at conception might be a real advance and it is likely that this will be available for the daughters of men living today.

Prenatal diagnosis and termination of female fetuses is a further vexed issue. There is little demand by European parents but the problem is a real one for Asian and other couples. In the UK the terms of the abortion law are such that the abortion would have to be performed for social rather than genetic indications. A fetus of the ‘wrong’ sex is probably as much a social disruption as a fetus conceived at the wrong time but this leads to a discussion of abortion for social rather than genetic reasons and will not be taken further here. Most genetic centres avoid the issue as their resources are earmarked for medical problems. A few women are known to have a normal female fetus aborted after an amniocentesis done on grounds of advanced maternal age. The only such patient I have had contact with returned for a further amniocentesis in her next pregnancy unaware that the outcome of the previous pregnancy was known. When asked what she would do should another chromosomally normal female be found she was adamant that she would continue this time. The fetus was male so her resolve remained untested!

Low risk but anxious mot...

Table of contents

• Front Cover
• Genetic counselling
• Professional Ethics
• Title Page
• Copyright
• Contents
• Notes on contributors
• General editors’ foreword
• Acknowledgements
• Introduction
• 1 Genetic counselling: A medical perspective
• 2 Genetic counselling: A nurse’s perspective
• 3 Predictive testing of adults and children
• 4 Ethical issues in newborn screening for Duchenne muscular dystrophy: The question of informed consent
• 5 Termination of a second-trimester pregnancy for fetal abnormality: Psychosocial aspects
• 6 Lessons from a dark and distant past
• 7 Prenatal genetic testing and screening: Constructing needs and reinforcing inequities
• 8 Medical genetics and mental handicap
• 9 The rights and interests of children and those with a mental handicap
• 10 Confidentiality in genetic counselling
• 11 Genetic reductionism and medical genetic practice
• Index