Picking a way through the genetic minefield

The Troubled Helix - Evolutionary Innovations - The Thread of Life
June 14, 1996

Ah, decisions, decisions. Your father died of Huntington's disease. Want to know if you are going to get it, too? Step this way.

Your partner has just tested positive as a carrier for cystic fibrosis. Should you not have the test now? Just send a sample through the post. You have an altered gene that increases your risk of breast cancer. Is it worth having both breasts removed, in the hope of removing the risk? The choice is yours.

There are no real precedents for these new choices. Through history, control over reproductive or genetic outcomes was basically limited to the subtleties of assortative mating, regulated according to the local culture, or the brutality of infanticide. Between these extremes, advice was necessarily geared to making the best of what you got. The first half of the 20th century added compulsory sterilisation and death camps to the repertoire. Their use casts a long shadow over contemporary medical genetic practice, but though it lends a terrible urgency to the need to make better judgements in future, it does not necessarily tell us how.

That is something we will have to work out over the coming decades. We have known these choices were coming for perhaps 30 years, known that we are finally acquiring a science and technology of heredity that will do what science and technology have always done for us - give us control over the objects of study. In the end, this will mean taking charge of our own future evolution. For now, it means taking responsibility for ourselves, and our immediate descendants, in new ways.

While it is impossible not to admire the scientific achievement on which this rests, the wondrous edifice of postwar molecular genetics, we are not sure yet what we think about its transformation into everyday technology. We still half-believe the enlightenment creed that all new knowledge is progressive. And if we still credit the idea of progress most of us, nowadays, would probably define it in terms of increasing choice, giving more people control over more aspects of their lives. Yet we have two deep reservations about this kind of progress in human genetics.

There is the one that stems from our painfully acquired consciousness, at the fag-end of the century, of our social, moral and political imperfections, and how they may affect the exercise of choice. And there is the more, shall we say, existential one: do we really want to choose? Is the mere fact that such choices now exist as much a burden as a blessing? If so, we may end up resenting the fact that there is one choice which will inevitably be denied us - we will have to choose, even if we choose to do nothing.

This is one dilemma which comes through very clearly in Theresa Marteau and Martin Richards's collection on the implications of the new human genetics. The papers they have brought together explore the issues raised by our ability to extract information from inside our own cells, mainly through the writing of academic sociologists, psychologists, lawyers or historians. But the book opens with a striking series of accounts of "daily life and the new genetics" by people with personal experience of genetic disease.

These show how deeply lives can be affected by inherited conditions, including Huntington's, breast cancer (where a few genes account for some 5 per cent of cases), sickle-cell disease, and Werdnig-Hoffman's syndrome, otherwise known as spinal muscular atrophy, one of those rare degenerative diseases fatal in early infancy. They also exemplify the kinds of conditions on which most of our experience of how to deal with new genetic information is based, as almost all the research studies reviewed in the succeeding chapters show.

Academics' contributions begin with excellent reviews of decision-making in the context of genetic risk, in which Shoshana Shiloh argues for research on counselling to pay more attention to the wider literature on risk and decision theory and Marteau prescribes the standards for future studies on the process of counselling. There follow discussions of the different types of testing - adult screening for carriers, prenatal screening - and arguments for and against testing children.

The third section then moves on to other disciplines' perspectives, encompassing law, ethics, public understanding, the history of eugenics in the UK, ethics and antiracist and feminist viewpoints.

The book as a whole, then, is ambitious in the range of issues covered, and most of its ambitions are realised. It is certainly a collection a serious student of the new genetics will need to read. Inevitably, there are a few disappointments. The main one is that the different discourses do not really connect - the voices of the people affected and the academics are mainly far apart. There is much welcome talk of negotiating the best application of these new techniques, but the negotiation between professionals and users is so far highly indirect. And while there is a good deal of pointed critique of past medical practice, this is partly to establish the claims of a new set of experts.

The Troubled Helix, then, is an academics' book. Its editors' concern to listen to the views of the subjects of genetic testing or screening, prospectively everyone, does not mean they address their findings to them directly. The book contains a version of Marcus Pembrey's admirable "user's guide" to the new genetics, but it is hard to imagine that a reader who can make sense of the other chapters will need it. Such a reader will learn a great deal more from the second Cambridge volume.

All publishers now have a lay reader's guide to the new genetics on their list and Susan Aldridge's volume is one of the best. Aldridge, who combines a research post at the Clinical Sciences Centre in London with popular science writing and editing, is an extremely clear writer, and refreshingly free of the bombast that often marks books in this field. She often brings a fresh touch to topics that have been explained many times before, and manages to cover more ground than most such books. Her knowledge and skill make her an excellent guide, whether she is explaining the origins of molecular biology or the origins of life, gene therapy or microbial mining.

The technologies Aldridge outlines really do promise some control over evolution. From another point of view, they are themselves the product of an evolutionary process, just as rigorous in its selection as in Darwin's view of life.

This perspective, an evolutionary economics of technology, informs Maureen McKelvey's view of the biotechnology industry, and in particular of the commercialisation of genetically engineered insulin and growth hormone.

The evolutionary analogy is a loose one, at best, because the selection is to a large extent conscious, and goal directed. And in technology, but not in nature, different novelties can readily be combined by innovating organisations. The sense of a product that succeeds in making its way to market as the outcome of a long, complex process of knowledge generation and testing remains, however. On this basis McKelvey constructs a rich account of the interaction between governments, universities, established corporations and new companies - and their research and development teams - that together determine exactly how biotechnological possibilities turn into commercial realities. Her book will be of interest to policy-makers as well as to economists and theorists of technology and, perhaps, potential users.

Similar processes will, of course, shape the technologies that eventually become established as the basis of more widespread genetic screening. But when the economists have had their say, we will need to go back to sociology to try to probe more deeply into the character of the decisions we may all soon have the opportunity to make. Meg Stacey, in the final contribution to the Marteau and Richards volume, remarks that a birth is always a social as well as a biological event. Similarly, a genetic test will always be a social event as well as a technical procedure.

What most of us will make of that social event is still unclear. There is relatively little research yet on the range of responses to the kind of genetic results that will make up the majority of uses as the technology develops: information about risk factors for common diseases. Charlie Davison reviews what we do know in another chapter of The Troubled Helix, in which he discusses a social future in which we each know more about our own probable individual future.

The decisions for single genes of large effect are the more dramatic, but the other choices offered by multiple gene tests, adding up, perhaps, to a new kind of overall health risk profile, will affect more people, and may be as troubling for some. Will predictive genetic tests be incorporated in already established health education exhortations to "look after yourself", already sometimes based on risk predictors such as blood cholesterol levels? How will they be interpreted and debated, in families, among friends? Will we respond by becoming more active in managing our own health, or more fatalistic? How will the answers differ for different conditions: cancer, heart disease, diabetes, arthritis?

We can make informed guesses about answers to some of these questions, but little more. A further guess is based on the response of a large group that has already lived with results of a predictive test: those who are HIV positive. We can guess that as science and technology elaborate a new genetic labelling system, which people are invited or compelled to incorporate into their ideas about themselves, many new groups will be defined which will be motivated to intervene in decisions about future research in these areas. The politics of biomedical research could look very different in consequence. As we move toward genetic self-knowledge, finding constructive ways for granting agencies (which presently see funding decisions as purely scientific) to respond to outside concerns will become as important as more social research. It is here after all that all the choices the rest of us have to make really originate.

Jon Turney teaches science communication at University College London.

The Troubled Helix: Social and Psychological Implications of the New Human Genetics

Editor - Theresa Marteau and Martin Richards
ISBN - 0 521 46288 6
Publisher - Cambridge University Press
Price - £35.00
Pages - 359

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