Introduction

In recent years there has been growing concern about the public understanding of science throughout the industrialised world. Such concern has fostered a wide range of practical initiatives aimed at promoting greater public understanding of science on the part of governments, scientific institutions, science-based industries and the mass media (for an international review, see Schiele et al. (1994)); at the same time it has facilitated the growth of research concerned with the interrelations between science and the public. In the UK, for example, a scientific inquiry into the public understanding of science (Royal Society, 1985) stimulated the Royal Society to join forces with the British Association for the Advancement of Science and the Royal Institution of Great Britain in the establishment of the Committee for the Public Understanding of Science (COPUS), and it provoked the Economic and Social Research Council to establish a substantial research programme in this area (Wynne, 1991; Ziman, 1991).

Within the broad field of the public understanding of science, medical science occupies a very special position. For obvious reasons, research on health and illness is of great relevance to everyone. Research reveals a substantially higher level of public interest in medical science than in other branches of science and technology (Durant et al., 1989), and this is reflected in the fact that the mass media consistently allocate more space and time to medical science than to other sciences (Hansen and Dickinson, 1992).

Introduction Martin Richards

This section presents the voices of family members whose lives have been deeply touched by genetic disease. It seems entirely appropriate that this should be the starting point of our analysis of the social and psychological consequences of the new genetics. These are people who carry the burden of genetic disorder and it is in their name that the whole clinical enterprise of the new genetics has been mounted. But we hear too little of their views: much more often it is the clinicians and researchers who tell how they think the lives of such people will be affected. In this section of the book we put those directly affected first and let a clinician have an afterword at the end.

A series of personal accounts such as these cannot be said to be representative of all those who come from families with genetic disorders. But, of course, neither can quantitative studies that set out to assess the experiences of a group of people in terms of means and median of a group. Such approaches conceal the diversity of response. There is a great deal of individuality, personal history and accident in the ways in which genetic disorder is experienced.

In planning this section we first selected a number of genetic disorders that varied in their features. Huntington's disease was chosen because it develops late in life and predictive testing is now available.

Population screening to detect carriers of several recessive conditions is now possible. Such screening can be conducted preconceptually, antenatally or neonatally. This raises the question of which programmes should be implemented, and on what basis these decisions should be made. Professional organisations in many countries are responding to these vexed questions by producing reports that set criteria to be met by all genetic screening programmes (Health Council of The Netherlands, 1989; Royal College of Physicians, 1989; Nuffield Council on Bioethics, 1993; Andrews et al., 1994). These reports emphasise the importance of patient autonomy in the decision whether or not to undergo a genetic test. The need to do more good than harm is also stressed. The purpose of this chapter is to consider the extent to which these principles are considered in evaluations of carrier screening programmes. Ways of realising the objectives of genetic screening programmes will then be discussed.

The number and type of screening programmes vary both between and within countries. The most frequently available programmes are for the common recessive conditions (see Table 5.1).

The objectives of carrier testing

To evaluate any clinical service, it is necessary to define its objective(s). Most often the objective is to improve one or more health outcomes. In genetic screening for recessive conditions, there is frequently no health improvement for the affected individual: the most common intervention is the offer of termination for affected pregnancies.

The antenatal clinic has been the scene of much of the routine screening carried out by the medical profession, and much of what we know about people's reaction to routine screening has been derived from this setting. At present, few of the tests offered to pregnant women owe their existence to the new genetics. However, increasingly such tests will be possible and it is expected that a major application of the new genetics will be determining the genetic status of a fetus. This may involve new techniques such as direct sampling of fetal cells from maternal blood. In the immediate future, however, it will use the same techniques for obtaining information about the fetus as are currently used in prenatal testing (e.g. amniocentesis and chorionic villus sampling), even if subsequent laboratory techniques will be different.

In this chapter we shall describe the tests commonly used in pregnancy to detect fetal abnormality, summarise what is known of their psychosocial benefits and hazards and consider likely future developments including carrier screening for recessive disorders during pregnancy (see also Chapters 3 and 5). First, however, we shall discuss the important distinction between ‘screening’ and ‘diagnosis’.

Screening versus diagnosis

Most genetic disorders are extremely rare, of the order of one in a number of thousand pregnancies, and there are a great many of them. It would not be feasible to test every pregnancy for every known disorder, even if this were thought desirable.

Introduction

The phrase ‘predictive genetic testing’ refers to the examination of a sample of genetic material with the aim of producing information about the health-related future of the person from whom it was taken. Such tests can be carried out on genetic material collected from individuals as fetuses, or as born people of any age. At present, predictive genetic testing has several routine applications in ante-natal care, such as the use of chorionic villus sampling in the early identification of fetuses with chromosomal abnormalities. The use of predictive genetic testing in people already born has, until recently, been restricted to a handful of relatively rare genetic disorders, such as Huntington's disease or muscular dystrophy. This chapter, however, is principally concerned with the extension of predictive testing into a wide range of very common illnesses and conditions, which is being facilitated by current rapid developments in human genetics (Wilkie, 1993).

In ante-natal testing, the process creates the opportunity for prospective parents to make decisions about the termination of an affected fetus, or to be forewarned of the birth of a child with special needs. In individuals already born, predictive genetic testing allows for the early start of therapeutic or prophylactic regimes (if any exist for a given disorder), and for life decisions to be informed in a way that would not otherwise be possible – the decision of someone who has inherited Huntington's disease not to reproduce, for example.

Introduction

Advances in scientific or technical knowledge are often accompanied by a concern about how the new knowledge will disrupt the existing moral order. The moral value of scientific knowledge depends on the use to which it is put, and the historical precedence of the abuse of theories of inheritance against various groups of people, including those distinguished by their ethnicity, has brought an urgency to concerns as to how the new genetics might be used against people. The continuing intolerance towards people of different ethnicities and religions, illustrated by the recent conflicts in Rwanda and the former Yugoslavia, indicates that the end of the Nazi regime in Germany did not mark the end of inter-ethnic genocide. The study of inheritance and human populations, since the Nazis were defeated in World War II, is often portrayed as neutrally progressing towards a ‘truth’, and not as an activity that has political implications. Decisions made about the type of research work to fund, what becomes defined as a clinical problem and the ends to which results are put, are guided by forces that are political in nature. An outcome of the supposedly neutral scientific research process, on which this chapter will focus, is the castigation of particular sections of society, because their habits, such as marriage patterns or diet, do not conform with what is considered to be genetically sound.

The ways in which genetics may be used against ethnic minority groups in the industrialised nations is not an ‘ethnic minority problem’, but a problem of the dominant ethnic group.

The impact of discoveries in medical genetics

There are some 4000 known, simply-inherited genetic disorders and, in aggregate, they are the cause of much suffering in 1–2% of the population. The common disorders include cystic fibrosis, sickle cell disease, the thalassaemias, fragile-X syndrome, Duchenne muscular dystrophy, haemophilia A, Huntington's disease, neurofibromatosis and adult polycystic kidney disease.

We ‘fight’ germs, but such language seems inappropriate for genetic disease because our genes, whether faulty or not, are an integral part of our makeup. Genetic testing can forewarn potential parents, but also pose moral dilemmas. Genetic knowledge can impose a burden of choice: a choice of whether to forgo children, trust to luck or seek prenatal diagnosis with the option of abortion if the baby is affected.

Although it is widely recognised that improvements in the treatment of genetic disease are desperately needed, some fear that ‘tinkering’ with our genes and the use of modified viruses as vehicles, or vectors, to deliver new genes to the body might be dangerous in some way to the population at large. Informed public debate needs an informed public, and that includes health professionals. Families facing these issues need help: genetic services, counselling and support in coming to a decision that is right for them.

What follows is intended as a simple guide to how genes work and sometimes fail. It explains how genetic tests are done and touches on some of the issues raised by advances in genetic testing.

The development of new techniques for characterising the genetic material we each carry is proceeding at an accelerating pace and is beginning to affect the lives of us all. Those most conscious of this are the members of families who carry genetic disorders. For many genetic disorders, testing techniques are becoming available that indicate which individual carries gene mutations and so are at risk of developing the disorder. For those few conditions where effective interventions or treatments are available, these genetic tests may help to indicate those individuals who may benefit from these as well as the family members for whom they are unnecessary. For most disorders, however, there are no treatments but tests can be used to avoid the births of affected children through the use of prenatal diagnosis and selective abortion. Currently the main application of the new genetics is testing for the presence or absence of gene mutations, but one of the main driving forces behind the research is to develop therapies; as yet, however, very few are available. The first tentative steps are now under way to insert functional gene sequences to replace those that, through mutation, have become inoperative and so cause disease. While this research continues, for the foreseeable future, the main clinical use of the new genetics is in the prediction of disease.

More widely, the same technologies are deployed in genetic fingerprinting to trace criminals from blood and semen samples, to settle cases of disputed paternity and for a host of other purposes where the genetic identity of any animal or plant is an issue.

“Your manuscript is both good and original,” wrote Samuel Johnson (it is said) to a writer seeking his blessing, “but the part which is good is not original and the part which is original is not good.”

We can rest easy. Bernard Rollin's ideas, analyses, and syntheses are both good and original, simultaneously. Readers seeking the author's point of view will find it to be that of the well-informed nonscientist, the late-twentieth-century “everyman” who embraces technology only after it is understood in an ethical and social context. We began to understand the genetic code only in the 1950s, and genetic engineering became possible only in the 1970s and 1980s. Thus there has not been time for much “ethical aging” of the issues such engineering raises.

It is in this context that Rollin uses the Frankenstein metaphor as a starting point for his discussion of genetic engineering of animals. No other book on this subject (there aren't many anyway) is as wide-ranging as this one, and none risks putting forth conclusions – in some cases, tentative ones – as this one does. As a result, some scientists will find fault with Rollin's views. But so too will some ethicists and “animal advocates” who will find some of the author's proposals for future genetic engineering surprising.

The more scientists learn about animal sentience, behavior, and self-awareness, the more important are thoughtful analyses of how the application of technology to animals can affect these properties.

In genetic engineering of animals, as in all areas of applied philosophy, one cannot write intelligently about the ethical issues that arise in the field without first achieving a reasonable grasp of the empirical facts and concepts presuppositional to it. I am thus grateful to the many scientists who have patiently mentored me in the relevant science, and who have in turn been willing to examine that science and its implications through dialectical ethical lenses. I have in fact found most of the people in the field wonderfully open, unthreatened, and kind, and very much concerned about doing the right thing.

Among these scientists who have treated me as a colleague, I must especially single out the following people: Dr. J. Warren Evans, now of Texas A&M, who first challenged me to address the issues growing out of genetic engineering of animals; Kevin O'Conner of the Office of Technology Assessment, who further stimulated my thinking, and Dr. Andrew Rowan, of the Tufts University Veterinary School, who gave me a forum for discussion from which I learned a great deal.

In a class by itself is the debt I owe to my brilliant genetic engineering colleagues at Colorado State University, Drs. Richard Bowen and George Seidel, who, at one time or other, have discussed with me the majority of issues relevant to genetic engineering and whose influence emerges on every page of this book, whether or not they agree with my conclusions.

All living things are a marvelous admixture of commonality and uniqueness. While all daisies express the features of “daisiness,” and all pigs display “pigness,” no two are exactly alike. The blueprint for both species' commonality and individuality is carried by the genes, which instruct and regulate the animals in how to develop, grow, and form throughout life. These genes are all sequences of DNA, an amazing molecule that has the ability to carry these instructions in all cells of the body and to self-replicate. Like the language of Morse code, which can carry the most complex messages using only two symbols, dots and dashes, DNA contains only four significatory components, and all genes are thus information-carrying sequences of these components.

Each animal, then, has a genetic program that directs it to develop into a pig, and into Porky, this pig. The genetic program for pigs or other living things undergoes changes through reproduction, when information from two individuals is combined to generate a new individual, and through artificial or natural selection, through which humans or nature determine which genetic programs will fit human or natural needs. When we breed dogs for certain traits, we choose to perpetuate certain genes and suppress others. When natural conditions favor one set of traits in an animal, say protective coloring versus coloring that flags the animal for predators, nature is choosing which genes will survive.

THE ISSUE OF POTENTIAL DANGERS ARISING FROM GENETIC ENGINEERING

There is a thought-provoking story by Ray Bradbury about a time in the future, in which people have mastered the ability to travel into the past. This ability is commercially exploited, and a lively business in touring has been established. Travelers are warned that they must stay on a special path provided by the company, which allows them to view events as they occur, while avoiding any interaction with the era to which they have traveled. In the story, a man has traveled to the age of the dinosaurs. Despite the injunction not to leave the path, he does so, and kills a butterfly. When he returns to his own time, he is no longer a free man living in an advanced society, but a political prisoner jailed under wretched conditions of totalitarian rule.

Initially, the story seems far-fetched, yet upon reflection, one realizes that the point of the narrative is to illustrate the way in which apparently insignificant events can create ripples that, over time, can have major and unforeseen consequences. Most of us have experienced this in our own lives. We can all recall situations like forgetting our umbrella, debating whether to go back for it, deciding to do so, just missing the elevator, taking the stairs, pausing to tie our shoelaces, and thereby meeting the person whom we will eventually marry.

ANIMAL WELFARE AS A PURELY MORAL CHALLENGE

The sorts of questions considered in the last chapter represent a mixture of ethical and prudential concerns. Ultimately, the weighing of risks and benefits, the anticipation of dangers, and the determination of mechanisms for minimizing and controlling them are dictated by rational self-interest for all parties to the discussion, even those who stand to gain the most from the genetic engineering of animals. Most of the risks I outlined are as much of a danger to the genetic engineer or to the advocate of genetic engineering as they are to the opponents of genetic engineering. Guarding against changes in pathogenicity of organisms, containment of dangerous animals, minimization of environmental despoliation, restriction of monstrous weaponry are all things that any rationally selfinterested person would set as a fundamental priority because athey can affect us or those we care about. Indeed, those working in the field of genetic engineering are probably at greater risk than the general public, because of their increased contact with the animals.

Those with a vested interest in the science and technology of genetic engineering are also vulnerable at another level, as has already been pointed out. Any catastrophic outcomes of genetic engineering are likely to eventuate in the imposition of severe restrictions on both research and its practical applications and in wholesale public rejection of biotechnology, as they will play directly into the hands of the doomsayer.