Led (astray) by genetic maps: The cartography of the human genome and health care

Sm. Sci. Med. Vol. 35, No. 12, pp. 1469-1476, 1992 Printed in Great Britain. All rights reserved

0277-9536/92 $5.00 + 0.00 Copyright 0 1992 Pergamon Press Ltd

LED (ASTRAY) BY GENETIC MAPS: THE CARTOGRAPHY OF THE HUMAN GENOME AND HEALTH CARE

A. LIPPMAN

Department of Epidemiology and Biostatistics, McGill University, 1020 Pine Avenue West, Montreal, Quebec, Canada H3A lA2

Abstract-Advocates of projects to map the human genome claim that the information produced will illuminate the causes of human disease, improve treatment and, in general, increase our health and well-being. While concerns about the costs of mapping and the possible discriminatory and eugenic applications of the information it will provide have received some attention, assumptions implicit in the biomedical discourse in which its ‘benefits’ are proposed and which are shaping definitions of illness and health, normality and abnormality, have not yet been adequately analyzed. This paper examines how the genetic stories about mapping and its potential products being told in the biomedical (and popular) literature continue a tradition of reductionism and determinism. This new ‘cartography’, by adopting the blueprint as a metaphor for genes, leads to restricted conceptions of health and illness, reinforces keq&ies in the distribution of health and, by privatizing and individualizing responsibility for health, creates and legitimizes a new arena for social control.

Key words-eugenics, genes, genetic technology, health care

I do not want to simplify Or: I would simplify By naming the complexity It has been made o’er simple all along.

A. Rich, 1975 “To an Old House in America”

Directed research projects are underway worldwide to map and sequence the human genome. The genome represents all the genetic material in the chromosomes of an organism and the goal of mapping is to locate the SO,OOO-100,000 human genes (the exact number is not known for certain) on the 23 pairs of chromosomes. So far, about 2000 genes have been mapped. With changing techniques increasing the mapping rate (currently about 12 additional genes are located per week), a human gene map may be completed as predicted by the year 2005.

Sequencing, a distinct but interrelated activity, aims to identify the specific order of the approx 3 billion pairs of nucleotide bases that make up the DNA molecules encoding the genetic material passed from parent to offspring. Its end product, a complete computerized ‘catalogue’ of the genetic material of humans, will take longer to achieve.

While the size, scope and international nature of the recently initiated human genome projects are new, as is their acceleration, coordination and systemiza- tion of scientific research, mapping and sequencing have been underway for many years [ 11. Photographs showing the alternating dark and light bands of chromosomes that illustrate media reports about medical genetics depict one version of the genome map. This map is akin to a picture of the earth’s continents taken from a high-flying airplane. Maps generated by targeted genome projects will refine these ‘views’, yielding close-up pictures with fine

details of the entire genetic terrain; the contents of cabinets in houses on the continents previously pho- tographed will now be made visible.

Although many countries have yet to begin their own integrated national projects (e.g. Canada) or to contribute to the international mapping organiz- ations, membership in this current ‘search for a holy grail’ [2] is growing and, as citizens of the world, we are all affected by it. Questioning mapping projects is therefore highly relevant: Why have they been under- taken? Why now? What do they mean? Where will the genetic map lead? This paper considers these questions in the context of North American biomedicine and health care.

GENETIC STORIES

Advocates of mapping projects usually present genes as THE principal factors influencing health, the direct causes of much of what ails us. Their stories describe how mapping will relieve human suffering and improve human reproduction by greatly increasing physicians’ ability to diagnose, treat and predict disease [3, 41.

These mapping stories are dramatic, their messages compelling and their promises seductive (e.g. Ref. [5]). Although they have been modulated somewhat recently to include repeated warnings that information obtained by mapping genes could perhaps be ‘misused’, there is, we are told, really no need for alarm: 3% of the budget allocated to the genome project in the U.S. is for what its director calls “the largest public investment in bioethical analysis to date” [6]. Thus, the worrisome ethical, legal and social implications of gene mapping, its potential for

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‘misuse’, will be addressed and mechanisms for their control proposed. According to advocates, then, the genetic stories will have happy endings with diseases cured and ‘side effects’ managed simultaneously as mapping proceeds.

In articulating these mapping stories, writers of both the professional and the popular literature tend to evoke blueprints or texts as the predominant metaphor for genes and DNA fragments (e.g. DNA is “the great helical string of biochemical letters that makes up the book of life” [7]). This stylistic device is not in itself new, having been employed almost half a century ago when Schrodinger (cited in Ref. [S]) likened the chromosome to a molecular code or script. However, the seemingly unlimited extension of the metaphor is of recent origin. Thus, if DNA chemist Robert Shapiro was extreme when he called human diseases “typographical errors” during a recent conference [9], his discourse was nevertheless quite consistent with current stories telling how DNA fragments are the instructions that make us what we are, how increased understanding of disease and the improvement of health will-and can only-be produced by mapping and studying genes.

These often-told genetic stories are popular and reflect an ongoing process of geneticization [lo] in which differences between individuals are reduced to their DNA codes, most disorders and behaviors, as well as physiological variations are defined as at least in part genetic in origin and the adoption of interven- tions that employ genetic technologies to manage problems of health is advocated. Their authors suggest that they depict the objective biological ‘reality’, but, as other stories, they are more appropriately taken as one way in which a set of observations may be constructed. And, this version warrants close reading.

Using the language of biomedicine and the metaphor of blueprints to describe illness, these genetic stories clearly extend the Cartesian tradition of reductionism (and dualism). Presenting the body as a machine comprising interchangeable parts (see Ref. [l 1]), genetic maps by definition take apart processes, not only distinguishing the psyche and soma but dismembering ‘physical health’ itself into separate territories to be divided and conquered. These maps also objectify the body and make the genome, rather than the person, the focus of medical attention. They extend to its limit Foucault’s conception of the medical/objectifying gaze [12], with McKusick [ 131 claiming that the gene has replaced the chromosome as the clinical geneticist’s ‘organ’. Moreover, once disease is identified as an observed change in the shape/constituents of DNA (cf. [14]) as occurs when a healthy, asymptomatic individual who tests positive for a gene associated with a dominantly-inherited condition of adult-onset is considered to haue the disease, mappers’ proposals to fix, replace or substi- tute a gene that is not working properly (as is already

done with faulty hearts, kidneys, knees and hips) appear to make sense.

Telling stories of health and disease in the language of genetics, packaging disorders with a genetic label, is of more than literary interest. These narratives necessarily orient in certain ways how problems will be defined, viewed and managed [15]. A combined discourse-‘genes are causal’, but ‘genetics can be regulated’-has already begun to circumscribe the language (and process) of analysis, coopting public debate about mapping and about approaches to health care. The stories-and their general oversim- plification of biology-have consequences for both research and social strategies such that their messages about sickness and health need to be studied atten- tively. For, even if a distinction between ‘use’ and ‘misuse’ could be drawn clearly, and even if ethically acceptable (and not just ‘expedient’ [16]) ways for obtaining and storing genetic information about individuals and families could be established by regu- lation or legislation, what the very practice does to-and says about-us, our attitudes to illness and health, our conceptions of the normal and the abnormal, cannot. The genomic choice for solving health problems itself needs to be explored, not ignored [ 10, 15, 171.

GENES AND HEALTH

Biomedical and political systems largely define health and disease, normality and abnormality in North America. They still primarily regard illness as bodily malfunctioning, with this malfunctioning having some specific etiology. This perspective makes it seem reasonable to present genes as causal factors. And, to those who believe a gene alone causes some disease, it will seem to make sense to ‘fix a problem’ by changing a person’s genes [18]. For those with these beliefs, maps and sequences will seem pertinent. But, what if biologic reality is discordant with the hyperbole in professional and popular magazines and isolated genes are not causes? Will mapping (still) lead to improved health?

Without question, a map of the human genome will identify variations in DNA patterns. Genes said to ‘cause’ disease, as well as those associated with increased susceptibility to specific disorders, will be claimed to have been found. But identification of the exact chromosomal location of a segment of DNA, even complete knowledge of the base sequences it comprises, will allow only the determination of its presence in a specific person. It does not-and cannot-forte11 what that person will be like. Human individuality is more than an individual’s biology. Genetic maps are only as useful, for example, as drawings of the neuronal connections between different cell types in the brain in what they can enlighten us about. Just as a map of the latter cannot predict even how sugar will taste to an individual, no less reveal anything about a person’s psychological life,

Gene maps and health care 1471

knowing that a gene is present is not sufficient for predicting the severity of the condition with which it may be said to be associated nor will the information solve the health problem(s) of those with the gene. The blueprint is not an appropriate metaphor for human biology.

In addition to the reductionism inherent in the blueprint metaphor is a problematic notion of determinism. Contrary to common assumptions, genes do not in themselves ‘cause’ anything, though they do make some things possible. Various traits may be influenced by genes; they are not determined by them. For many disorders of personal and public health concern, the interactions of multiple environmental and genetic factors is assumed. For these conditions, as well as for those that are inherited as single gene disorders, genes provide but a (partial) ‘list of ingre- dients’ [19]. Without the recipe for their interaction, little can be made of them. The widely used example of sickle cell anemia illustrates clearly the limits of genetic information.

The exact DNA alteration associated with this disorder, a change in only a single gene pair, was identified over 20 years ago. Nevertheless, predicting beforehand how severe the condition will be in any particular person is still impossible-and a cure remains elusive [20]; astute clinical observations and inferences, not genetic information, led to the demon- stration that prophylactic penicillin would dramati- cally improve the quality of life of newborns with sickle cell anemia [21]. Moreover, even the mutation associated with this ‘simple’ mendelian disorder only makes illness possible: the probability of forming the hemoglobin polymers that create the ‘sickness’ of sickle cell anemia will vary from person to person depending on other genetic and environmental conditions [20].

There is little reason to expect mapping will be any more ‘useful’ for the far more complex physical and mental conditions (such as schizophrenia, Alzheimer disease, high blood pressure, alcoholism) now claimed to be ‘genetic’. No matter how refined, even a complete ‘genetic profile’ of an individual will reveal very little about how the person will turn out. The most that is learned from studying components is what the components are like [22]. And, what we learn about components isolated from their connections is unlikely to be informative about how they function in the whole person.

Parts as well as whole organisms respond to circumstances. Even the biological significance of a gene cannot be sufficiently described by its location and nucleic acid sequence (cf. [23, 241. Phenomena described by geneticists [25, 261 such as position effects, imprinting and fluctuating asymmetry demonstrate that ‘circumstances’ such as its neighbors, the parent from which it comes and random events will all play a role in a gene’s expression in ways maps cannot capture. We need what has elsewhere been called ‘thick descriptions’ [27] of genes and of all

their circumstances if we are to understand human development.

With regard to the classification of problems of health, too, the relationship between genes and disease is more complex than current stories suggest. Despite the claims in newspaper headlines and jour- nal titles, it is not evident that the frequency of genetic disorders has actually increased. Certainly, the number of conditions put under this rubric by today’s arbitrary ways of classifying human diversity and the use of the rubric itself have multiplied (e.g. the tendency to call cancer a ‘genetic’ disease). But these problems are ‘old’, and most likely reflect complex gene-environment interactions. Only their categorization has changed, so that common conditions (cancer, alcoholism, schizophrenia, etc.) that could be categorized in many other ways are now (re)constructed by the application of biomedical information to be labeled as ‘genetic’ diseases.

Most conditions have a large number of ‘causes’, and the weight arbitrarily given to any one of them will determine how the condition is classified [28,29]. This weight will reflect the biomedical as well as the social, political and economic considerations of those who name and assign causes, with power accruing to these diagnosticians and classifiers [30]. Constructing prevalent health problems as belonging to this ex- panding category of ‘genetic’ disorders allows gene mappers to justify the urgency of their projects, but the benefits of this way of naming things to others is less obvious. To prevent ill health we must eliminate some cause of it but, as Hesslow [28] notes, “any cause will do”. Taking the naming approach that seeks genes and hereditary factors for all variations may perhaps “do”, but it may also-or instead-lead to the perverse effect of worsening our individual well-being and our collective health directly and indirectly. As sickle cell anemia demonstrates, it is not necessary to know how genes work or where they are located to promote health and well-being, to understand illness, to relieve suffering.

Identifying the genetic component(s) of a disorder, no matter if its inheritance follows a single gene or multifactorial pattern is, without doubt, of intellec- tual interest. But the importance of this identification depends on how priorities are ordered. It cannot be taken as ‘given’ that understanding the genetic basis of a problem is more important for reducing risks to well-being than understanding the sociopolitical conditions that lead to its expression when, among other things, well-being requires that basic human needs be met and that a person has “a fair chance of getting a job, of playing a part in society, of being treated with respect. . . . ” [13]. Should genes really matter most here?

The search for a hereditary basis for (susceptibility to) conditions and traits considered part of our rich store of human diversity is already casting many of these variations as abnormalities. However, the application of genetic technologies does more than

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increase the number of those with disorders labelled as ‘genetically abnormal’; it also orients what will be done to treat or to deal with them. The individual affixed with a genetic label can be isolated from the context in which s/he became ‘sick’, with the source of the problem located within her/him. The detailed ‘inside’ (and insider’s) knowledge gained from genetic studies can thereby draw attention away from crucial questions about why this person is ill in this place and time and about how changes in this situation might themselves erase the problem. And again, sickle cell is an informative example. The documented advantages of screening to facilitate early intervention with prophylactic penicillin notwithstanding, would such universal treatment be necessary if the living conditions of children with this disorder did not raise excessively their exposure to infectious agents?

The construction of mapping as a solution to problems of disease or ill health prevalent in the genetic stories is, therefore, at best incomplete. De- spite a biological reality to human disease and the need for efforts to reduce the (human) suffering and costs associated with it, social and physical environ- ments, economic conditions, gender, race, personal behaviors and available services influence health (individual and collective) no less than heredity. Any one of these could be a focus for stories about disease. Any one could be the subject of a program to reduce suffering. Before adopting the message of genetic stories as a guide to health, we might consider whether preventable premature deaths in the U.S. are more likely to be associated with guns or genes (cf. [32]). Whether disruptions of children’s mental development are more likely to be attributed to lead or genes (cf. [33]). Whether improvements in a woman’s quality of life are more likely following removal of her chances of harm from violence or from genes. Just as genes are best-if not only-understood within their chromosomal, cellular and organismic contexts, genetic classification is best assessed within its social, cultural and political contexts.

Variations in the distribution of wealth and power in North America have far greater impact on the distribution of health than do variations in the distribution of genes, with both inherited within families. Is it necessary to identify genes that put individuals at risk for conditions (e.g. lead poisoning; some obesity) that can be prevented by changes in political or social policy or that can be managed successfully so that people with them live comfortably to old age (e.g. hypertension)? Why is childhood poverty, rather than mapping the genome, considered a “problem too big for us ordinary mortals to tackle” [34]? We attend to causes “through a grid of value judgments” [35] that necessarily reflect the background beliefs, the vested interests and the ideology of the investi- gator. Given that the historical context has always determined which traits will be considered to be hereditary, as Duster [36] has eloquently shown, we should be wary about the choice of genetic causes

today and its necessary reduction in, if not exclusion from, attention to poverty and other social and environmental factors disruptive of health.

GENETIC PREDICTION: PROMISES AND PROBLEMS

A major theme in mapping stories emphasizes the marked advances in the prediction and prevention of health problems that genetic information will provide. Assuming that knowledge of one’s risk status is a motivating factor for change and that behavioral change will reduce one’s risk of disease, mappers seek genes that render a person susceptible to any number of complex and frequent conditions of ill-health. Identifying these genes will allow them to develop screening programs to distinguish those who have inherited some ‘susceptibility’ gene which sup- posedly puts them ‘at risk’ for something that someone else is not at risk for. These susceptible, ‘at-risk individuals will then be informed about their probability of becoming diseased and counseled about behavioral changes they should make to reduce their chance of becoming sick.

The usual rationale for choosing this predictive/prevention approach is an economic one: it seems better/cheaper to prevent than to cure or care for those who become ill (see [37]). According to this storyline, if those at risk for some problem can be identified early on, it will be possible to intervene and prevent the problem from actually occurring. And, to give the story a contemporary allure, the theme suggests that this approach will ‘de-medicalize’ health care by putting people in charge of themselves.

At time when cost-containment is a preoccupation of those with power to establish public (health) policies, the economic profits supposed to attach to this approach will seem especially attractive (see, for example Ref. [38]). And, who can argue against demedicalization? But, aside from grave concerns about whether the driving force for medical (genetic) testing should be the economic gain of government or insurance companies [39] or whether the agenda for health research should be determined primarily by financial considerations, the putative advantages of testing are moot and the nature of individual responsibility in this context worrisome.

For example, there has not yet been any rigorous, inclusive social or economic analysis of ‘predictive medicine’ based on genetics to show that it will actually be financially advantageous. That there may be extensive hidden monetary (and other) costs associated with the increased medical surveillance genetic screening may engender has yet to be considered seriously. As more and more ‘susceptibility’ genes are mapped and tests for them developed and applied, we will each necessarily be found to be ‘at risk’ for something. But, which individual, yet-to-be uncov- ered genetic ‘vulnerabilities’ will be sought? The more pharmaceutical companies marketing testing kits make ‘patients’ of the well, the more extensive the


profits they will gain for themselves (cf. Refs [40,41]). But the gains for ordinary citizens are less evident.

The demedicalization component of the prediction/ prevention theme is also troublesome. At first glance, it may appear appropriate and efficient to encourage the practice of ‘good life-style’ behaviors by individuals whose genes are said to put them ‘at risk’ so that they will lower their ‘innate’ risks. But, the reality (biomedically, socially, politically) is far more complex than the normative assumptions beneath this encouragement imply (cf. [42]).

To begin, doing all the ‘right’ things will not necessarily lower the probability of disease more for someone who is ‘susceptible’ than for anyone else. Genetic susceptibility may motivate a person to alter her or his behavior, although strong evidence for such an effect is currently lacking [43], but any benefits to health will accrue similarly to all who alter their behavior. Those having a ‘genetic risk’ will still remain more likely to develop the problem than those without this susceptibility [cf. 441.

Moreover, this already popular strategy of encour- aging behavior change may unfortunately augment, rather than reduce, existing inequities in health. With emphasis on individual responsibility and control, the enthusiasm and support needed for developing social programs to reduce the ‘well-mapped’ structural risks to health deriving from poverty, racism and sexism are likely to be eroded. The individual, not society, is seen to require change; social problems improperly become individual pathologies.

Furthermore, neither the ability nor the desire to change behavior is distributed equally among all individuals. For those whose situation either embraces norms that differ from those prevalent among the white, middle-class mappers that currently prevail or makes them impossible to follow, it may neither be possible nor ‘make sense’ to stop smoking, to relax, to exercise more or to follow a prudent diet, even after being identified as genetically at risk for a problem (such as heart disease) linked epidemiologi- tally to these factors. Society does not permit all people to have the range of ‘lifestyle’ choices available to the privileged (even assuming there was agreement on what the concept ‘lifestyle’ meant). The relationship between knowledge (including awareness of risk) and a decision to do something ‘healthy’ is far more problematic than the reigning ideology would have us believe [lo].

In general, then, the genetic predictive/preventive approach fails to acknowledge that people do not ‘choose’ to become ill, that even their supposed ‘choices’ with respect to how they live, ‘choices’ said to modulate the occurrence of disease, are con- strained by the circumstances of their lives and limits (external or internal) on their opportunities (cf. [45, 461, and see [47], where Graham suggests that given her life circumstances, smoking may be construed as a health promoting activity by a poor woman whose role embraces her family’s and not merely her own,

health care). Disease does not result simply from individual failure to follow advice. Does a single mother with at least a double work load have the ‘leisure time’ for the exercise that might reduce her chances of developing osteoporosis later in life (cf. [48])? Can a black woman constantly encountering racist practices reduce her stress by resting?

As suggested above, conditions of society such as poverty, racial bias, gender discrimination and lack of political power, are among the well-documented non-genetic risks to health that create ‘suscepti- bilities’. Why not call these factors ‘markers’ and label them for intervention? Why not seek to change employment, income support, housing and taxation policies that influence the probabilities for illness in a population instead of-or at least in addition to-lobbying for ‘lifestyle’ modifications? By ignor- ing the social causes of individual behaviors and of ill-health, mapping stories could lead to ‘enlightened impotence’ [49] if not promote an old-fashioned, conservative and potentially coercive model of medicine. The model is conservative because existing cultural, political and economic restraints on options for dealing with matters of health and illness mean that obtaining and ‘using’ information about one’s genetic make-up, as well as the ability to adopt any recommended practice, will vary disproportionately in the population reflecting, and in turn reinforcing, current inequities. And, the model may be coercive to the extent that genetic prediction transfers account- ability and responsibility for health to the individual, thereby replacing society’s responsibility to eliminate the adverse social circumstances damaging to health with the ‘susceptible’ person’s responsibility to avert that for which s/he is at risk, to prevent a problem. This sets the stage for social control and for ‘victim blaming’ of those who do not follow what is suppos- edly ‘sensible’ advice for their health. For, if something is called ‘preventable’, should the person not prevent it?

To compound matters, prediction can lead to enduring control because of the impossibility of evaluating how ‘sensible’ the advice actually offered is. Given that information from susceptibility testing only provides an estimate of the probability that a person will become ill, how can we determine if the disease-free individual remains so because of her/his behavior or because of her/his genes? Furthermore, under pressure to act in ways that will purportedly minimize the potential to become ill, a person who fails to do so may be seen as ‘irresponsible’ if not ‘socially deviant’. (Conversely, the person who does act ‘correctly’ necessarily identifies her/himself as ‘genetically deviant’ by the very fact of her/his changed behavior [SO]).

And, finally, while it is assumed that those with knowledge of their risk status derived from predictive testing will change their behavior, thereby decreasing their chance of becoming ill, the initial risk status label attached to them is likely to be permanent. They

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may change their behavior and alter their risk status thereby, but if the label has been used for insurance and/or employment decisions, it sticks (cf. [39]).

MAPMAKING REVISITED

Mapmaking, whether of the body or the earth, is as much political and cultural as it is ‘scientific’. It is a social activity, not because it involves the committees, workshops and data sharing McKusick [13] describes under this label, but because it is an expression of and influence on social values.

Today’s genome projects could not be done without the sophisticated technical machinery now available for studying DNA, but they would not be done if our vision was not already filtered through a genetic prism [36] and if the reigning biomedical culture was not supportive of and conducive to the genetic colonization-geneticization [ lo]-we are witnessing in the areas of health and illness. This geneticization gives mapmakers, their funders and the purveyors of their products tremendous power (and wealth) for defining how we think of ourselves and others and for determining who will manage us as individuals and as a society. This power might have been more apparent if, instead of ‘HUGO’, which reminds us of the humanism of the French author, the international gene mapping program had adopted the (brigand-defining) acronym preferred by Brenner for its title: ‘THUG’ (The Human Genome) [l].

It may be too late to rename the project, but we can still consider employing a more appropriate metaphor than the blueprint for genes, one that makes mapping and its limits more transparent. The metaphor itself can create a ‘reality’ that becomes a guide for future action, legitimizing certain policies and practices, excluding others [51]. What if we changed metaphors and saw the gene map as no more than an ‘organogram’, the grand bureacratic design of an organization? Organograms are fixed and or- derly; so are maps. Neither says anything about who really talks with whom (on either micro or macro levels), what is done, how things are done, what relationships exist, etc. Both law/line-bound maps and organograms can only reveal how someone in charge decided to reduce to static parts a particular whole. They are silent about processes, changes and interactions, dynamic phenomena that are more in- teresting biologically and culturally for what they tell us about the humans they seek to describe. Do we really want to invest major human or economic resources in the development of an organogram? What would we learn from it?

It is perhaps time to reclaim the agenda and develop fundamental social and ethical analyses of gene mapping projects that reconceptualize the issues and broaden the group of participants. Gene mapping is in itself problematic and of concern in ways that ongoing research on the social, legal and ethical consequences of the information deriving from

genome projects cannot address. It is insufficient merely to analyze the potential of this information and develop ways to avoid or control the undesirable effects to which it may lead (cf. [52] for parallel arguments related to studies of prenatal diagnosis). Performed primarily by those favorable to the development and application of biomedicine and its technologies, and carried out on their terrain which frames issues in terms of models involving cost- benefit trade-offs, this (traditional) type of research appears to replace analysis and reflection with man- agement (cf. [53]) and to perpetuate an artificial distinction between ‘use’ and ‘misuse’.

Some have suggested that even the ethical analyses in this area are ‘manipulated just as is the genetic material itself [54]. Certainly, these analyses occur within the limits established by biomedicine rather than question them. Mainstream bioethicists working well within the dominant biomedical paradigm are often mainly ‘soft whistle blowers’ [55]. Offering symposia, conferences and publications as demon- strations of the active attention being given to potential problems, they sometimes seem to provide ethical ‘comfort’ and ethical ‘cover’, to borrow from Annas [16], and seem to suggest that worrying about gene mapping is unnecessary: the technologies will not master us; objections to them just reflect our ignor- ance or lack of information [4, 561.

Strongly influenced by economic liberalism for the most part, bioethicists assessing genome projects generally give priority to private rights and personal autonomy, make technology use appear liberating and commonly emphasize the principle of beneficence for the individual (e.g. [56-581. Adopt- ing this approach, however, means that other bases for ethical reflection are neglected. Unfortunately, it also leads to overlooking how protecting the supposed ‘good’ of an individual can lead to forced testing or intervention and to the harm of the community and to the collective of which she is part.

We need to encourage ‘hard’ (or loud) ‘whistle blowers’ [55] who will question the current mapping dogma and stimulate a thorough critique of its assumptions, rationales and practices [59, 601. We need to put mapping into context with analyses that take other than a reductionist standpoint. For example, what if we gave primary importance to relationships rather than to components, if we saw connections, not codes, as what makes us what we are individually and collectively? Would current gene mapping and sequencing activities still be a major approach to health?

Geneticization cannot but alter our relationships, commitments and values. It will encourage Shapiro’s search for the “absolute identity of relationships” to learn from the exact extent of DNA similarities between them if his male sibling is “60% or 70% his brother” [9], but will it allow us to understand such relationships themselves enough to learn who will exchange care with us in old age [cf. 61]?


Justifying mapping as the way to establish control over our genetic endowment and to improve health is doubtless an effective strategy for obtaining research funds and for generating public support. But the “propaganda images” [62] produced close the debate, implying we need only regulate the ‘costs’ to obtain all the ‘benefits’. However, it is uncertain that those who will pay the costs will be those who get the putative benefits. More troublesome, though, is that the control over genetics promised by mappers may really mean the control by ‘some’ (elite) over others (us), with genetics as the instrument (cf. [63]). If we are to uncover the roles of eugenics and economics in propelling mapping projects, we must recognize that processes, not parts, contexts, not components are what we most need to explore in our search for health and well-being and then orient our analyses of today’s genetic stories accordingly.

Acknowledgements-Very special thanks go to Louise Van- delac with whom I have collaborated in this overall project. Always, her ideas are insightful and her perspective thought- ful, and she invariably adds breadth and depth to my understanding of the problems raised by gene mapping and genetic technologies. She and I co-authored an initial French-language critique of the genome projects that was presented at the annual meeting of I’Association Canadi- enne-Francaise pour l’avancement de sciences (ACFAS) in May 1991 from which this paper has evolved.

Many of the ideas in this paper have also arisen from ongoing and always stimulating exchanges with Gwynne Basen, Ruth Hubbard and Karen Messing, among others. I thank them for their challenges and for their constant support. More recent comments from two anonymous reviewers were also of great help in sharpening and clarify- ing the themes of this paper and I extend sincere gratitude to them. Thanks, too, to Vanessa Hill for her patience through the (too) many revisions this paper underwent. AL was supported by a Scholar Award from the National Health Research and Development Program of Health and Welfare Canada; the Social Sciences and Humanities Research Council provides research support.

10.

11.

12.

13.

14.

15.

16.

17.

18.

19.

20.

21.

22.

23.

24.

25.

26.

27.

28.

5.

REFERENCES 29.

Watson J. D. and Cook-Deeaan R. M. Oriains of the 30. human genome project. FASEB J. 5, 8, 199‘i. Hall S. S. Holy Grail, Biology’s moon shot. Smithsonian 31. October, 41, 1989. Rossiter B. J. F. and Caskey C. T. Molecular studies of human genetic disease. FASEB J. 5. 21. 1991. Working Group on Genetic Screening and Testing. Report of Discussions. In Genetics, Ethics, and Human Values, XXIVth CIOMS Conference: Tokyo and In- 32. uyama, Japan, 1990. Bishop J. E. and Waldholz M. Genome: The Story of the 33. Mosr Astonishing Scientific Advenrure of our Time-the Attempt to Map all the Genes in the Human Body. Simon 34. and Schuster, New York, 1990. Juengst E. T. The human genome project and bioethics. 35. Kennedy Inst. Ethics J. 1, 71, 1991. Angier N. Biologists seek the words in DNA’s unbroken text. N.Y. Times Cl; Cll, 9 July 1991. Medawar P. B. A biological retrospect. In The Art of the Soluble, p. 97. Methuen, London 1967. 36. Shapiro -R. The human blueprint. Lecture, Science College Public Lecture Series, Concordia University, 37. Montreal, 29 November 1990.

Lippman A. Prenatal genetic testing and screening: Constructing needs and reinforcing inequities. Am. J. Law Med. 17, 17, 1991. Newman S. A. Idealist biology. Perspect. Biol. Med. 31, 353, 1988. Foucault M. The Birth of the Clinic. Vm age .2 Books, New York, 1973. McKusick V. A. Current trends in mapping human genes. FASEB J. 5, 12, 1991. Young A. How medicine tamed life. Culrure Med. Psychiat. 11, 107, 1987. Lippman A. and Vandelac L. Cartographie et se- quengage du genome humain: Questions d’ethique et d’evaluation sociale des technologies. Acres de colioque ACFAS. In press. Annas G. J. Ethics committees: From ethical comfort to ethical cover. Hastings Center Report 21, 18, 1991. Lippman A., Messing K. and Mayer F. Commentary: Is genome mapping the way to improve Canadians’ health? Can. J. Publ. Hith 81, 397, 1990. Caskey C. T. Gene replacement therapy. The 1991 ICI Distinguished Visiting Lecture, McGill University, Montreal, 22 April 1991. Newman S. A. Genetic engineering as metaphysics and menace. Sci. Nature 9/10, 113, 1989. Rodgers G. P. Recent approaches to the treatment of sickle cell anemia. JAMA 265, 2097, 1991. Gaston M. H., Verter J. I., Woods G. et al. Prophy- laxis with oral nenicillin in children with sickle cell anemia: A randomized trial. N. Engl. J. Med. 314, 1593, 1986. Murphy E. A. The logic of medicine. Am. J. Med. 66, 907, 1979. Kolleck R. The limits of experimental knowledge: A feminist perspective on the ecological risks of genetic engineering. Issues Repro. Genet. Engr 3, 125, 1990. Manuelidis L. A view of interphase chromosomes. Science 250, 1533, 1990. Comings D. E. Presidential address: The genetics of human behavior. Am. J. Hum. Genet. 44, 452, 1989. Hall J. G. Genomic imprinting: Review and relevance to human diseases. Am. J. Hum. Genet. 46, 857, 1990. Geertz C. The Interpretation of Cultures, p. 3. Basic Books, New York, 1973. Hesslow G. What is a genetic disease? On the relative importance of causes. In Health, Disease and Causal Explanations in Medicine (Edited by Nordenfelt L. and Lindahl B. I. B.). Reidel, Dordrecht, 1984. Tesh S. N. Hidden Arguments. Rutgers University Press, New Brunswick, NJ, 1988. Brown P. The name game: Toward a sociology of diagnosis. J. Mind Behav. 11, 385, 1990. Kuitert H. M. Using genetic data: A moral assessment of the direct social consequences. In The Social Conse- quences of Genetic Testing (Edited by Rigter H., Bletz J. C. F., Krijnen A., Wijnberg B. and Banta H. D.), p. 31. Netherlands Scientific Council for Government Policy, The Hague, 1990. Novel10 A. C. Violence is a greater killer of children than disease. Publ. Hlth Ren. 106. 231. 1991. Needleman H. Childhood lead poisoning: A disease for the history texts. Am. J. Publ. Hlth 81, 685, 1991. Heagarty M. America’s lost children: Whose responsibility J. Pediaf. 118, 8, 1991. Spicker S. F. and Engelhardt H. T. Jr Causes, effects and side effects: Choosing between better and the best. In Health, Disease and Causal Explanations in Medicine (Edited by Nordenfelt L. and Lindahl B. I. B.), p. 225. Reidel, Dordrecht. Duster T. Backdoor to Eugenics. Routledge, New York, 1990. WHO. Feasibility study of community control pro- grammes for cystic fibrosis:-Memorandum from a

SSM 35112-E

1476 A. LIPPMAN

38.

39.

40.

41.

42.

43.

44.

45.

46.

47.

48.

WHO/ICF (M) A Meeting. Bull. Wld Hlth Org. 68,709, 1990. Garber A. M. and Fenerty J. P. Costs and benefits of prenatal screening for cystic fibrosis. Med. Care 29,473, 1991. de Wit G. W. Genetics: An insurance problem? In The Social Consequences of Genetic Testing (Edited by Rigter H., Bletz J. C. F., Krijnen A., Wijnberg B. and Banta H. D.), p. 51. Netherlands Scientific Council for Government Policy, The Hague, 1990. Nelson D. and Tancredi L. Dangerous Diagnostics: The Social Power of Biological Information. Basic Books, New York, 1990. Leaf A. and Ryan R. J. Sounding board: Prevention of coronary artery disease. N. Engl. J. Med. 323, 1416, 1990.

49.

50.

51.

52.

53.

54.

Davison C., Smith G. B. and Frankel S. Lay epidemiology and the prevention paradox: The implications of coronary candidacy for health education. Social. Hlth Ill. 13, 1, 1991. Badura B. Life-style and health: Some remarks on different viewpoints. Sot. Sci. Med. 19, 341, 1984. Ford E. S. and DeStefano F. Risk factors for mor- tality from all causes and from coronary heart disease among persons with diabetes: Findings from the national health and nutrition examination survey I: Epidemiologic follow-up study. Am. J. Epidemiol. 133, 1220, 1991.

55.

56.

57.

58. 59.

Benkerdorf J. L. Prenatal substance abuse-ubiquitous 60. cry for help. Repro. Toxic. 5, 87, 1991. Littlewood R. From disease to illness and back again. Lancet i, 1013, 1991. Graham H. Behaving well: Women’s health behavior in context. In Women’s Health Counts (Edited bv Roberts H.), p. 195. Routledge, New York, ‘1990. _ Ford E. S., Merritt R. K., Heath G. W. et al. Physical activity behaviors in lower and higher socioeconomic status populations. Am. J. Epidemiol. 133, 1246, 1991.

61.

62.

63.

Winner L. The Whale and the Reactor. University Chicago Press, Chicago, 1986. Hubbard R. The Politics of Women’s Biologv. Rutgers University Press, New Brunswick, NJ, 1990: - Lakoff G. and Johnson M. Metaphors We Live By. Chicago University Press, Chicago, 1980. Lippman A. Can what counts be counted? Women Hlth 18, 1, 1992. Rocher G. Ethical concerns in the assessment of medical technology needs. In Proceedings of a Symposium on Health Care Technologies Assessment, p. 81. Minis&e de la Sante et des services sociaux, Quebec City 25-26 May 1989. van Tongeren P. J. M. Ethical manipulations. An ethical evaluation of the debate surrounding genetic engineering Hum. Gene Ther. 2, 71, 1991. Fabrega H. Jr. An ethnomedical nersoective of medical ethics.-/. Med. Phil. 15, 593, 1990. _ Dignum H. Note d’infonnation, Projet du genome human, Comid ad hoc d’experts sur la bioethique, Conseil de l’Europe, Strasbourg, le 30 novembre, 1990. Conseil de I’Europe, Comite ad hoc d’experts sur la biotthique (CAHBJ) Project du genome, Strasbourg, 1990. Dausset J. Vers un avenir reflechi. Interface 12,36, 1991. Council for Responsible Genetics. Position paper on genetic discrimination. Issues Reprod. Genet. Engr 3, 287, 1990. Labrusse-Riou C. Les implications juridiques de la gbnetique. Revue du Droit Public et de la Science Poli- tique en France et d F&ranger, p. 1366. Colloque France-Suedois, Stockholm, 1989. Callwood J. Twelve Weeks in Spring. Lester & Orpen Dennys, Toronto, 1986. Winner L. Is there light under our bushel? Three modest proposals for STS. Bull. Sci. Tech. Sot. 10, 12, 1990. Lewis C. S. That Hideous Strength, p. 178. Collier Books, New York, 1946.

Led (astray) by genetic maps: The cartography of the human genome and health care

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