Public understanding of medical discovery

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February last year, the popular British magazine Woman's ~ '"'~'~~ Own published an article headed 'Would you take a breast cancer test?'. It suggested that, 'women who have a family history are thought to be more at risk. Now, however, scientists have developed a blood test that can show if we're likely to get cancer. But would you want to know?'.

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This misleading piece, which went on to record a dozen women's funding for their research, while being wary of raising unrealistic answers to that question, highlights the increasing importance of the expectations. Or they may have concerns about securing public conpublic understanding of new medical discoveries. The article relates, sent for 'controversial' research, such as experiments on human emof course, to the search for the BRCA1 gene, which confers suscep- bryos or animals. tibility to breast and ovarian cancer. The race to identify the gene was then nearing its final stages, and has since been concluded by Mark The Genome P r o g r a m m e Skolnick's group (Utah, USA). That race, in turn, is a small part of As the Human Genome Programme gathers pace, and industry the world-wide effort that makes up the Human Genome Programme. is poised to exploit its discoveries, its impact across the whole of bioThe identification of BRCA1 is an excellent example of the kind of in- medicine is perhaps the most powerful reason for promoting the formation that is now of concern to the public's understanding of science. With • public - a discovery about a common work proceeding apace on the common, and much-feared disease, which appears 'Scientific knowledge needs multifactorial diseases - notably cancer simple at first but turns out to be part of t o be partnered with and heart disease - as well as claims for a highly complex story. However scienthe existence of a 'gay gene' or the more recently publicized 'obesity gene',more tifically brilliant the research is, it appears to bring little immediate prosand more people will be struggling to understandings, even at the understand the impact of novel genetic pect of either treatment or prevention information on their lives. Even if they conceptual pur , are not interested in medicine and scifor most patients at risk.

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W h y is communication important? enceper se, these new technologies may There are many reasons why biocitizen knowledge' affect their ability to secure mortgages medical scientists should be interested and obtain life insurance. At the same in the public's understanding of reJ o a n Solomon, 1992 time, healthcare systems are increasingly search. Their concern may be to profocusing their attention on 'predictive mote effective application of their own medicine', as welt as preventive recallresearch results - through the appropriate use of new therapies - or cine, using the new diagnostic technologies to identify those apparto encourage behavioural or environmental changes in response to ently healthy members of the public who may not know or want to new epidemiological information. Scientists may need to lobby for know they are at risk. @1995, Elsevier Science Ltd

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Some of the most impressive recent efforts to explain the rudiments of genetics and molecular medicine • Billy Arouson (1994) They Came from DNA, Scientific American Books for young readers, W.H. Freeman • Fran Balkwill and Mic Rolph (1992) DNA is Here to Stay, Collins (By the same authors: Cells are Us, Cell Wars,Amazing Schemes Within Your Genes,Microbes, Bugs and WonderDrugs.) • John Dwyer (1988) The Body at War - The Story of our Immune System, Unwin Hyman • Anna Hodson (1992) Essential Genetics, Bloomsbury • Steve Jones and Borin Van Loon (1993) Genetics for Beginners, Icon Books • RobertPollaek(1994)SignsofLife-TheLanguageandMeanings of DNA, Houghton Mifflin (US), Viking (UK) • Lois Wmgerson (1991) Mapping our Genes- The Human Genome Project and the Future of Medicine, Plume/Penguin (US)

Genetic literacy For this reason, calls for promotion of 'genetic literacy' are increasingly being heard from bodies such as the Nuffield Council for Bioethics (UK) and the Institute of Medicine in the USA. According to Nancy Wexler, who researches into Huntingdon's disease and chairs the Ethical, Social and Legal Panel of the US Genome Programme in the National Institutes of Health (Bethesda, MD, USA), 'Rather than slow the science, we need to accelerate the creation of a social system that will be more hospitable to new information about our genes, our heritage, and our future'. A grand claim, but how is this actually going to be achieved and how can an educational programme be conceived to remedy the sort of misconceptions exemplifted by the Woman's Own breast cancer story? How can the obstacles to public understanding be defined and addressed? Medical science competing for the public's attention The public is interested in biomedical research as a whole and shows a particular interest in genetics. People in general are welldisposed to medical research and may even take it to be a paradigm for all science. According to John Durant (Science Museum, London, UK) and his colleagues, in their comments on the results of a national survey of public understanding of science in 1988, 'For virtually everyone, medical research is the most interesting branch of science; but for those whose acquaintance with matters scientific is fairly slight, it seems to occupy a truly dominant position. It is judged to be not merely far more interesting, but also far more scientific than anything else'. W h a t form of c o m m u n i c a t i o n is most appropriate? If the issues are too complicated to be explained in short articles in newspapers or magazines, or in sound-bites on the TV or radio, maybe books are the answer. The Genome Programme is certainly spawning plenty of them. Some weeks it seems there will be a book for every gene identified. Trying to do justice to molecular medicine and its apparently difficult concepts by writing at greater length does i

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not overcome other limitations. Yes, the public is interested in this area, but what does it actually want or need to know? The Editor of Nature Genetics in collaboration with a popular writer has already produced a 370 page book on the breast cancer gene. This will inevitably date quickly; and does the extraordinary detail they offer on all the twists and turns of the saga, which may be of great interest to researchers and clinicians, really help the 'ordinary reader' understand the implications of the findings for themselves? What is the public's understanding now? Academic thinking in the area of the public's understanding of science has developed in the past ten years. This followed the influential report on The Public Understanding of Science from a committee of The Royal Society (London, UK) chaired by genome 'guru' Sir Walter Bodmer. Research in this area covers the same spectrum of methodology as any social science. At one extreme there are large-scale surveys of knowledge or opinion, with quantitative findings, and at the other extreme, there are smaller-scale, more detailed studies, whose findings are more often qualitative. The two categories of approach are probably best regarded as complementary: surveys provide good baseline data about what people may know or think, and intensive studies help with the interpretation of the findings. Two models of interpreting data To interpret the data on the public's understanding of science there are two main models: the 'deficit model' and the 'contextualist model'. The deficit model is the most common interpretation. This can be summarized as: there is a body of scientific facts; only a few people seem to have any significant proportion of them right; this is a 'bad thing'. This model is based on 'top-down' thinking: 'we, the scientists, know what the important questions are and, more important, what the right answers are'. This assumption is reflected in the calls for 'genetic literacy'. The US Institute of Medicine, for example, in its 1993 report on assessing genetic risks, strives for 'a genetically literate public that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information.' To achieve this, they suggest, 'genetics professionals and qualified educators must assume responsibility for identifying the essential components of genetic

Why is molecular medicine hard to communicate? Molecular medicine can be a headache for journalists writing for a broad audience. The Science Editor of The Guardian (London, UK) explained why he reported very little biological research: 'Imagine trying to write an article about a new AIDS finding... First, the reporter has to tell the story so far: AIDS virus particle binds to cell, fuses, ifijects core proteins and two strands of viral RNA; provirus migrates to nucleus, is integrated into cell's DNA; provirus then either lies doggo or commandeers cellular mechanisms to...oh, hell! all of this was old hat last year and we still haven't got to the story.' A problem.

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literacy. What do we want people to know, value and do about genetic information?' This might seem quite reasonable but in the 'real world', outside the laboratory, the information that members of the public want or need and the outstanding questions they feel are important may be quite different from those that biomedical researchers would prioritize. They will depend on their perception of their own likelihood of needing the information, and the answers that they will find useful will also need to relate to them as individuals. As the educational researcher Joan Solomon (Oxford, UK) puts it, 'Scientific knowledge needs to be partnered with complementary social understandings, even at the expense of conceptual purity, if it is to become usable as citizen knowledge'. It is a crude, but useful generalization that researchers who favour large-scale quantitative surveys are likely to favour the deficit model, while those researchers who favour qualitative studies more often lean towards a bottom-up, knowledge-in-context approach (the contextualist model). In 1993, Jon Miller and colleagues at the International Center for the Advancement Figure 1. The size problem. Many diagrams give no impression of the relative sizes of chromoof Scientific Literacy (Chicago, USA) asked somes, genes and DNA. Reproduced, with permission, from Issues: Genes, Diseases and Dilemmas, Hobson's Scientific, 1993. two sets of questions in a survey of 2000 US citizens. These were phrased around either the scientific understanding of basic biomedsheds light on some of the difficulties they may have in following the ical concepts or the nature of scientific inquiry in general. 'science-based account'. Some pre-mendelian ideas about inheritFor basic biomedicine, respondents were asked both open-ended ance still have a wide intuitive appeal; for example, it is quite easy questions, and true-false questions, such as: to elicit notions of blending inheritance, and of inheritance of 'DNA regulates characteristics for all plants and animals' (true); acquired characteristics, from schoolchildren who apparently have 'all bacteria are harmful to humans' (false); or 'the human immune system has no defence against viruses' not been taught a 'science-based' account of genetics. These ideas are also very much alive in popular culture, where old stories are (false). For the general understanding of scientific inquiry it is more diffi- effortlessly modified to incorporate the language, but not the logic, cult to define what the 'right' answers are. People who said that they of the new biology. In the 1980s remake of the 1958 movie The Fly, understood how to study something scientifically were asked to ex- for example, when the afflicted scientist Brundle asks his computer plain what they thought this meant. Two methods of testing a new drug terminal what lies behind his gradual transformation into a fly, the were then described, with or without a control group, and the survey message appears, 'integration at the molecular genetic .level'. The story, though, is clearly based on a notion of blending inheritance, respondents were asked why one way was preferable to the other. Studies conducted in this way conclude that few people are 'scien- with some twentieth century jargon added for effect. tifically literate' and that ignorance of even quite basic scientific concepts is widespread. The easy take-home message for those who wish ' L i k e ' is a u s e f u l w o r d A further crucial set of findings from educational research relates to communicate molecular medicine is therefore that you really do have to explain what DNA is each time you write or talk about genetics to the way people try and make sense of new ideas such as those of or molecular biology. The kind of explanation that needs to be given molecular genetics. What appears to happen when any of us try and when communicating about an area such as heredity must take incorporate new concepts into our ideas about the world is a process account not only of an ignorance of basic biology, but also of the of mental model-building based on available analogies. We understand by asking what something new to us is like. Chromosomes are number of misconceptions that the public harbours. like beads on a string, as scientists were once taught; and the human genome is like an encyclopedia. A third model? Finding analogies for the science of genetics that convey what one There is a body of educational research that stands somewhere between the 'deficit' and 'contextualist' models. This has identified intends to someone who has not had a 'modern science education' some of the ideas that people hold about biology or medicine even if is unusually difficult. First, there is a problem with 'size' (Fig. 1). they have not encountered contemporary scientific notions. It also Like so much of modem science, biology now deals in entities way

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Genes, chromosomes and DNA? The identification problem - is the gene inside or outside the DNA? The existence problem - where does DNA come from? The Iocalizability problem- is a gene in one place, or is it everywhere? The combination problem - does genetic material join by combining or mixing? The activity problem - some things seem to require genes to act on other things; some things to be dormant. The differentiation problem - the same genes control cells of many different types. After Ogbom,J. et al. (1993) Metaphorical reasoningabout genetics, commonsense understanding of science, Working Paper 3, Institute of Education, London University, London, UK

outside the scale where our intuitions are any help in gauging relative sizes. This comes across clearly in a recent study by John Ogborn and colleagues at London University's Institute of Education. Their subjects, elementary-school teachers, could grasp the idea that DNA somehow carries information, but could get no further in working out how this might happen. Part of the problem was that, even if they understood the terms used, they had no sense of the hierarchy between entities like cell, chromosome, gene or DNA. As Ogborn reports, 'a major sticking point for virtually all the groups was whether genes are made of DNA or DNA is made of genes'.

Are scientists communicating useful information? These studies can assist the would-be communicator to get across ideas whose complexity is no longer apparent to the professionals. But this is still using the assumptions of the 'deficit model'. We still don't know whether the kind of scientific literacy that might be achieved this way is what people want or need. Effective science communication can learn from other forms of communication. Perhaps the most important 'guideline' is: 'know your audience'. In particular, think hard about what they want to know - and even find out beforehand. People who have acquired a particular expertise in a subject will tend to see the area as a reflection of their own interests and the areas that they found challenging, whereas the 'man on the street' is likely to find other aspects interesting or relevant to him. They may even find the 'science' largely irrelevant and be more interested in the ethics of the issue, which can be heavily influenced by religion and culture.

Relevance of the science to patients and carers A recent study of information needs and access about Down's syndrome by David Layton and colleagues (Leeds University, Leeds, UK) demonstrated that Down's syndrome can be defined scientifically as a genetic disease with a particular clinical presentation and in great detail. How useful is this information to the parents of a newborn baby with Down's syndrome though? Not surprisingly, the answer was 'not very'. The researchers interviewed nearly 40 sets of parents about the problems of caring for their new baby with its unexpected handicaps. The scientific explanations they had been given bore little relation to their immediate practical needs. Knowing that the syndrome stems from a chromosome 21 triplet, which can 362

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come about in this way or that, is all very well but a typical mother's comment was, 'once we know what kind of Down's syndrome he's got...there's not much we can do about it and we've got to get on with things'. Information more appropriate to her needs included: how to get a child with poor muscle tone to suck on a bottle; and how to deal with a delay in walking and talking, or chronic constipation. These may be practical, everyday concerns that challenge parents, but a proficient knowledge of genetics in this case is of little assistance - an understanding of basic anatomy and physiology may indeed be much more useful. Overall, these researchers found that, 'for most parents their most potent resource was not formal science, the medical profession, ancillary services or even voluntary organizations - it was themselves'. The experts, as well as being seen to be unhelpfully pessimistic, could only present knowledge 'in the wrong form, reflecting priorities different from those of practical action. Parents interpreted such experiences as evidence that those transmitting knowledge to them did not share their perception of the problem.' Knowledge of the genetics of Down's syndrome may, however, be more useful when explaining the basis of pre-natal screening and the likelihood of it being 'passed on in the family.' The more optimistic aspect of this study is that these parents did find answers to their real questions, in the end, either by working them out for themselves or by asking others who had done so already. This fits with the results of wider research that has shown that, when faced by a particular problem, perhaps especially a medical problem, people will put together what they think they need to know somehow or other. Is life too short to become scientifically literate? The reason why general scientific literacy is low may not be that people are incapable of understanding, but that they 'don't bother' or cannot make the large investment of time and effort it needs to achieve it. Two articles about the Human Genome Programme in Time magazine in 1989 used at least 64 different technical terms in just eight pages. These terms ranged from simple words with specific meanings, such as sperm, egg, cell, nucleus and chromosome, to the more esoteric terms with meanings that are more difficult to explain, such as oncogenes, restriction fragment length polymorphisms, retrovirus and eugenics. This demonstrates that even a mass-circulation publication that can cover an area in some depth is not particularly user-friendly in its coverage of molecular medicine. This doesn't mean that non-scientists who need or want to understand science can't succeed if the motivation is strong enough. A British man, for example, taught himself enough neurobioiogy from his prison cell to fight a successful appeal against his conviction for child abuse, and proved that his knowledge was a match for that of the original forensic pathologist.

Messages in the context of other influences A British study of patients with familial hypercholesterolaemia found that not only do they listen to the advice they get from their doctors, about diet and its effect on the drug treatment prescribed to lower their blood cholesterol, but they also consider this advice in the context of information from lots of other sources. These include: food labels, health education leaflets, TV and radio programmes, friends, family and folklore - and they make little distinction between the validity of the information from each source. The resulting behaviour change depends on complex negotiations within and between family

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members; who cooks for whom and what people 'believe makes sense' hold much the same weight as medical advice based on the latest research findings. The science of communicating medical breakthroughs to healthcare professionals, of all types, and to the public via the media and informal channels, is therefore an important public health priority. Breast cancer and communication Returning to the breast cancer screening problem, the process of explaining to the public the significance of the gene discovery has only just begun. It is a good example of many of the practical problems discussed already. It would seem simple to communicate that mutations in BRCA1 are associated with an appallingly common disease. Explaining that only around 1 in 20 cases has any dominant inherited influence, and that this locus only relates to about half of these, will take more considered explanation. Incomplete penetrance, so that having the altered gene does not necessarily mean you will get cancer and that testing negative for the gene does not mean you are safe, may suggest to the public that the test is not very useful or appropriate to the individual being counselled. It may be that a good analogy for this and other screening programmes can be borrowed from the 'lottery', i.e. converting the laws of gambling to 'relative risks'. The next level of complexity in the breast cancer story is that there are multiple mutations in multiple genes - BRCA2 has now been identified and B R C A 3 is on the horizon. Ultimately, patients may need to know which mutation they have in which allele, taking them much closer to the language of molecular genetics than the traditional approach of genetic counselling has needed so far. At this point, it is not clear what should be recommended for those women who test positive for B R C A I . Breast cancer screening by mammography is already controversial, especially for women under 50 years of age; prophylactic double mastectomy is understandably not an attractive option for most of these women. Delivering messages about breast cancer genetics will be seen in the context of other information received. Many individuals in families

Questions arising for molecular medicine • What is the best way to explain the reliability of tests based on molecular medicine techniques? • Should tests be marketed for conditions where treatment prospects are nonexistent or poor? • What resources will be needed to support education and counselling for those confronted with new kinds of information about themselves? • What regulation is needed on the control of access to the results of predictive tests for genetic diseases in individuals? • How can we discover how much and what people really need to know about the science underlying the 'new genetics'? • How can we encourage the public to have reasonable expectations about the medical and social benefits (and costs) of the Human Genome Programme? MMT would be interested to hear your views. Please write to the Editor, or send e-mail to [email protected], Your responses will only be published in MMT with your permission.

where B R C A I is prevalent already have firm ideas about their level of risk, and about why it occurs. As Martin Richards and colleagues (Cambridge, UK) find, these may often be non-mendelian, and can hamper understanding of the scientific account. It makes little apparent sense to some people seeking counselling that the mutation for a disease that seems only to strike women can be passed on by men, for example. The continuing work of Richards' group in breast cancer clinics suggests that much of each session involves the counsellor trying to find out what assumptions people arrive with. These assumptions include perceptions of their risk and the significance of testing. These lessons will be useful for communicating about other conditions for which molecular-medicine-based tests will be developed, particularly the more ambitious options now being pursued where 100 or 1000 gene loci may be tested at a time for a given individual. It may well be that the scientific understanding of the public will, in future years, be as important as the public understanding of science.

Selected reading Cough, E. and Wood-Robinson, C. (1985) Children's understanding of inheritance, J. Biol. Edac. 19, 304-310 Davies. K. and White, M. (1995) Breakthrough - the Quest to isolate the Gene for Hereditary Breast Cancer, Macmillan Durant, J., Evans, G. and Thomas, G. (1992) Public understanding of science in Britain: the role of medicine in the popular representation of science, Public Understanding o.fSeience 1, 161-182 Laylon, D. (1992) Dealing with Down's, in hlarliculate Science? Perspec,yes on the Poblic Understanding of Science and Some Implications for Science Education (Layton, D., Jenkins, E., MacGill.S. and Davey,A.,

eds), Studiesin EducationLtd Menens, T. and Hendrix,J. (1990) The popular press, scientific literacy in human genetics and bioethical decision-making, School Science and Mathema,cs 90, 316-319 Myers, M. et al. (1994) Involving consumers in the development of an educational program for cystic fibrosis carrier screening, Am. 2. Hum. Genet. 54, 719-726 Lambert, H. and Rose, H. (1995) Disembodied knowledge? Making sense of medical science, in Misuuderstonding Science (Irxin, A. and Wyone,B.,

eds), CambridgeUniversityPress Ogborn, J. et al. (1992) Children and teachers talking science, Working Papers 1-6, Instituteof Education,LondonUniversity,London,UK Ogborn, J. et al. (1993) Metaphorical reasoning about genetics, commonsense understanding of science, WorkingPaper 3, Instituteof Education, London University,London,UK Radford, T. (1990) On not reporting biology, Biologist 37, 20 Rapp, R. (1992) Chromosomes and communication: the discourse of genetic counselling,MedicalAnthropology Quarterly 2, 143--157 Richards, M.P.M. et al. Counselling families with hereditary breast and ovarian cancer: a psycho-social perspective, J. Genet. Counselling (in

press) Turney, J. (1995) The public understanding of genetics - where next? Enr. ]. Genet. Soe.

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Turney, J. (1995) Signs of life - taking genetic literacy seriously, The Genetic Engineer and Biorechnologist 15 (2, 3), 181-187

Jon Turney is a Wellcome Fellow in Science Communication, Department of History, Philosophy and Communication of Science, University College London. m

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