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STRAIT to the future8th Asia-Pacific Specials, Health and Law Librarians Conference Gates, gate-keepers and genetics
Professor Don Chalmers
The end of the 20th Century has excited much speculation about the most significant achievements of the last century. The following would seem to be a reasonable set of nominations: air flight (the Wright brothers 1903); mass production and the assembly line (1913); the woman's bra (1914); the television (1924); the sound film (1927); the jet engine (1936); nuclear energy (1942); the computer (1946); the transistor (1947); the contraceptive pill (1960); the Macintosh (not of the overcoat variety!). Even grander speculation is taking place in nominating the most significant inventions of the last millennium.[1] In the millennium nominations can be found the printing press, calculus, double entry accounting, plumbing, spectacles,[2] the Gothic arch in architecture, the steam engine and electricity. 1. GatesRather than nominating an invention, I would prefer to nominate a phenomenon - Bill Gates. The start of the next millennium is not by the creation of the world's wealthiest person. He is currently worth US$ 90 billion which means that he has more personal wealth than 1/3 of the world's population; this personal wealth surpasses the 100 poorest countries in the world combined. His wealth expands at a rate of US $10 billion a year. He could single-handedly pay off the entire Russian national debt, safe in the knowledge that by the end of the year he would be starting off on the road to his next US $10 billion (and perhaps paying off the Australian national debt).[3] The philosopher John Ralston Saul has quipped that if you double a number and it shocks you and then you divide it by 2 and it still shocks you - it's a shocking number. The Microsoft Chairman's earnings in 10 days is equivalent to the entire Australian Overseas Aid Programme in developing countries. At the end of this millennium, internationalisation and globalisation of markets have a poor score card for improving the lot of the needy and poor. The gap between rich and poor has never been so wide, nor widening at such a rapid pace. Societies, and for that matter the whole movement of globalisation needs a moral base if societies are to co-exist and progress; unlike Adam Smith's view of capitalism in his Wealth of Nations or Marx's vision of socialist integration or the post-war dream of the welfare estate, globalisation is a ruthless re-ordering of economics where corporate self-interests trumps moral and social responsibilities. I pray that the major development in the next century is a practical philosophy to narrow the ever-widening disparity in the wealth between individuals and nations. 2. Gate-KeepersI am not sure that I can identify the greatest invention of the last century, much less the last millennium but the world wide web and internet are likely to be seen by future generations as a giant leap forward. The wealth of the Microsoft Chairman is confronting and challenging to the new economic globalisation. Equally challenging is the market dominance of Microsoft in the global communications arena, although market may be a more appropriate term. It is impossible to gainsay the advantages of electronic communication and access to information. On-line access to statutes and cases has vastly improved the work of the legal profession, judiciary and legal academic. Similarly, computerised medical records, diagnostic checklists, treatment procedures and, now tele-medicine will (after some minor teething troubles) vastly improve the delivery of medical and health services, especially to rural areas. Many on-line services are mirrors of the hard copy which are disappearing rapidly from library shelves because of stellar increases in subscription rates. This has led to the demise of many journals in law and medicine as on-line publication avoids the usual 6 months to 1 year publication backlogs; on-line publication facilitates ready access to up-to-date information. Interestingly, there are some happier reports from small, specialist journals, which have neither the circulation nor the economies of production scale to survive in hard-copy . Some have been raised from the grave and re-entered the scholarly firmament as on-line journals.[4] The librarians' gate-keeping questions of:
In fact, some of these questions can be much more easily answered with on-line access which can incorporate the recording ("hits") of access to a particular site. This first question about quality becomes critical when the researcher shifts from on-line access to a particular site to a general web search. The exponential growth of web pages and search engines for the web demands a new revived role for the gate-keeper at the electronic version of the Tower of Babel. If it's true that 10% of the search engines are responsible for 90% of the total traffic on the web, we are all web passengers rather than navigators. Commercial interests on the web are carefully developing strategies exploiting key words, titles, meta-tags and source codes to divert researchers towards their commercial information. Similarly, the search engines available, turn up forests of advertising material and side trips to some unwanted product or service. The continuing chaos on the web requires improved orderly indexing by the professional librarian as gate-keeper. [5] I personally, have watched the net grow from humble academic beginnings in the early 90s to a fast moving commercial marketing tool. Netscape Navigator was the first search engine which fundamentally changed how information could be retrieved -from a machine rather than a library. It opened up avenues and dimensions for research never considered feasible just 5 years before. As with any revolution, some gate-keepers had to start setting down navigational channels to help poor passengers like myself find the information we want rather than information which commercial interests are now trying to foist upon us. For my greatest interest is the way in which the web can be used to increase access not just to information but to the knowledge that information may convey. Knowledge and wisdom[6] advance communities; information is as good as yesterday's newspaper and is almost always disposable. 3. GeneticsI would like to talk about another revolution as the centre of my talk - the new genetics. The Hon Justice Michael Kirby of the High Court of Australia ranks molecular biology above the internet "... the most important scientific breakthrough of this century may be seen, in time, to be neither nuclear fission, nor interplanetary flight, nor even informatics, but the fundamental and basal molecular biology which permits the human species to look into itself and find, at last, the basic building blocks of human and other life".[7] The molecular biologist studying these miniaturised estates has replaced the physicist in the public scientific imagination at the close of the 20th century. Genetics, it is claimed, will be the science of the next century.[8] This is a vast subject and may be best considered in a summary list of a sort of "top ten" dos and don'ts (the Ten Commandments perhaps). 3.1 Understand the Science - Avoiding the Columbus Syndrome There is a critical need to promote public understanding of the science, its consequences and aims. The difficulty is that the term 'gene' is a 'fuzzy entity'[9] meaning different things to different scientists.[10] The billions of cells which make up the human body have been compared to miniaturised industrial estates, their industry directed by chemical messengers from our genes.[11] Despite impressions that there is a "new" genetics, the relationship between phenotype characteristics, disease and heredity has been known for centuries. Certainly "genetic" origins of disease were well understood in the last century. The quality of parents' health and the reproductive capacity of each spouse has fascinated the British Royal Family and kept the Royal houses of Europe busy for centuries. Molecular genetic analysis can be dated back to Abbe Gregor Mendel in Brno during the last century with his investigations into genetic variation in peas and the inheritance patterns of those characteristics in later generations. Evolutionary selection in plants, animals and humans was reduced to some general principles by Alfred Russell Wallace and Charles Darwin in the 19th century. They and other Victorian scientists have been rightly called the intellectual aristocracy[12] who shaped the 19th century view of science and the world. While the Abbe Gregor Mendel was tracing the genetic characteristics of his peas, his near-contemporary Charles Darwin hypothesised on a grand scale about evolution. In The Origin of Species,[13] Darwin argued that all forms of life are in some sense convertible into one another, and sprung from common ancestry. Darwin also theorised that each cell having individual peculiarities breeds nearly true to its kind by propagating innumerable germs (gemmules) which circulate in the blood. These gemmules remain in an inchoate form until they fix themselves later to other tissue before they develop into regular cells. The second aspect of this theory ( pangenesis) argued that these gemmules are governed by natural affinities in selecting their attachment to other tissue and that the "... marvellous sculpture of the living form is built up under the influence of innumerable lined affinities and not under that of a central controlling power".[14] After the work of the Victorian intellectual aristocrats, it was a Danish botanist, Wilhelm Johannsen, who suggested the term "gene" as a word to mean the hereditary factors observed by Gregor Mendel.[15] This was a simple and elegant word for something which many of the scientists had to be convinced of at the beginning of this century. It was actually not until 1909 that "Mendel's law" was finally accepted in Mendel's Principles Of Heredity, published by William Bateson. It was the same Bateson who, in 1905, coined the term Genetics for the study of heredity and its variation. The molecular genetic analysis of DNA depended on the work in the US of Avery, published in 1944 who demonstrated that DNA is the genetic material. He published his results in 1944. Later, in the early 1950s, Watson and Crick made one of the greatest scientific discoveries ever with their identification of the chemical composition of the four bases which form the genetic material. They discovered that DNA is made up of a sequence of the bases adenine, cytosine, guanine and thymine (ACGT) and in humans there are 3 billion of these bases arranged in precise order along the chromosomes in every cell. Each molecule of DNA exists as a "double helix".[16] A combination of sugar and phosphate forms the backbone of the helix, with the bases facing inwards. The two strands of the double helix are held together by weak hydrogen bonds between the bases. The chemical structure of the bases is such that cytosine and guanine have affinity only for one another, as do adanine and thymine. In this way the two strands are complementary to each other. Interestingly, their monumental results were published in a succinct, one page article in Nature. The development of recombinant DNA techniques in the 1970s vastly accelerated research capacities on human animal and plant genetics.[17] Significantly, safety concerns prompted scientists to a self-imposed moratorium on recombinant technology in the mid 1970s. In 1975 the first genetic engineers called for a moratorium on recombinant DNA research in the Asilomar Declaration as there were fears of bacterial infection which was being replicated in E. coli bacterium. The towering influence of genetic research is symbolised at the end of this century by an international collaboration entitled the Human Genome Project. The estimated three billion dollars of public money which will be spent on the Human Genome Project has been augmented by further billions spent on commercial research and product development in genetic research in general. The Human Genome Project has been compared to putting a man on the moon in 1969 and some predict it will make genetics "the science and medicine of the future".[18] The Human Genome Project (HGP) itself is in fact another 'fuzzy' idea because it is not a single project but a number of different related projects which aim to:
It has been estimated that the base sequence of human genome [20] would fill 200 telephone books of 1000 pages each, so one of the major tasks of the HGP is to develop an electronic database storage and management system. For the last eight years the research effort has concentrated on the first two goals and has been remarkably successful. Both the genetic researchers and the funding agencies are focusing research efforts on large scale sequencing. It is expected that the project will be completed before the expected date of 2005.[21] The HGP has received more media attention than all other biological research in the last few years. The rationale for the project was that if we know where the location of all genes on the human chromosomes, and we know their sequences of bases then we will be able to understand, for example, the way in which the genome functions, how organisms develop and evolve and the genetic basis of inherited diseases. From the outset it was decided that the project should be a collaborative venture, both between institutes in the same country and between countries. The HGP involves some 9,000 scientists in 36 countries, though admittedly the significant proportion of the work is being undertaken in North America and Europe.[22] The international Human Genome Organisation (HUGO) was founded and this organisation has been termed the United Nations for the human genome. HUGO coordinates developments and advances in molecular biology and genetics, and Australia has an input to this body.[23] Jeroboams of scientific and academic ink have been devoted to the HGP as despite the apparent feasibility of the project, it has received extensive criticism. One particular gripe is that the HGP has concentrated on sequencing and that little effort is being expended in determining gene function. Although these limitations are recognised, this does not lead to the conclusion that the human genome project is a search for the 'Holy Grail' - a noble quest but for a probably fictitious artefact. Nevertheless the HGP will lay the foundations for evolutionary studies through sequencing descriptions of different species of plants and animals, including humans. More importantly, in medical practice there will be many offshoots of the HGP and other genetic research, particularly in the areas of diagnosis and treatment of diseases with a genetic component, especially monogenetic diseases. [Columbus] Instead it places a responsibility on all those participating in genetics research to illuminate public understanding of the complexities of the science - to explain accurately the risks and benefits, promise and limitations of discoveries and to spell out how the well-being of society may be improved. The public must engage in informed debate on whether we can afford this glittering new science which has harnessed genetics to robotics[24] and computing. This is not a debate which should be conducted in the closed circles of professional lawyers, scientists and ethicists. The debate must involve the community which needs to understand where genetic research may lead. Great contributions have been made by historians, social scientists, psychologists and educationalists as well as scientists themselves in explaining the impact of the new genetics on society and social values. In this respect, educationalists face a number of challenges to improve genetic literacy and teach a conceptual understanding of genetic science rather than concentrate too much on the staggeringly complex facts involved. There must be a focus in describing single gene traits on the considerable variation in expression and severity of the traits involved in, for example, Huntington's disease or cystic fibrosis. It must be emphasised that most human traits and common diseases are polygenic and multi-factorial. Democracy prospers most in an educated society. I believe that education in the new genetics will have the positive effect of assisting the community to understand the potential benefits but also, equally importantly, promoting a healthy scepticism about some of the more exaggerated claims or tentative conclusions which are made about the new genetics.[25]
3.2 Avoiding Exaggeration About the Science
Additionally, there is a tendency for some commentators (though seldom scientists themselves) to reduce genetics to certainties despite there being extensive work still to be undertaken in the preliminary phase of gene identification. Even when a diseased gene is identified, the clinical assessment of a genetic condition does not necessarily indicate a degree of penetrance of the particular gene (rather than condition), the severity of the onset of a genetic condition in later life or the relationship between the genetic condition or diet and the environment. Genetic testing is still at an early stage of development. Many of the available tests are expensive and their results sometimes equivocal and open to interpretation. For example the identification of the BRCA1 gene does not infer the inevitable contraction of breast cancer in later life. The "precautionary principle" is also justifiable because, for some genetic tests the scientific knowledge is still equivocal. For example, the BRCA1 gene was located and sequenced (cloned) in 1994[27] and BRCA 2 in 1995. An expert team that considered these tests concluded that "the effects of genetic testing of BRCA1/2 mutations are complicated. ... at our present level of knowledge, the test should be offered, and taken, only with great care".[28] This Report went on to advise that testing should only be done by competent professionals with specialised training, that additional research was crucial and that improved knowledge about BRCA1/2 mutations was essential for appropriate testing.[29] Similarly, the haemachromatosis gene does not necessarily determine iron overload and organ damage in later life. Simply expressed, genetic susceptibility does not equal genetic inevitability. Moreover, there are still too few professionals trained in genetic counselling. Further research will promote the development of better genetic testing. (a) Enhancement Gene Therapy: This is an example of the exaggeration tendency. There have been rather simplistic predictions that human genetic engineering will offer the opportunity to insert genes for non-disease related traits, such as intelligence, height, musical ability, looks etc. This is termed enhancement gene therapy. It is now generally accepted that many of these traits will prove to be polygenic, influenced by the environment and social interaction and extraordinarily complex to alter much less, enhance. Most commentators, both geneticists and ethicists have pronounced enhancement gene therapy totally unacceptable.[30] This view is proposed on the basis that such therapy interferes with our notions of humaneness and human identity and is 'playing God'. Such therapy harks back to eugenics programmes earlier this century conducted not only by the Nazis but also in other countries. The US, for example, had an established eugenics programme in the 1920s. It is unlikely that enhancement gene therapy will ever be feasible, because many human traits may prove to be far too complex to be modified by the introduction of a single gene or group of genes. Traits such as intelligence arise from the combined effect of multiple genes and the individual's interaction with his or her environment. Insertion of single genes will, at best, produce only subtle modifications of these traits.[31] To paraphrase Professor David Danks, somatic cell gene therapy is important but difficult, germ line gene therapy is simple but useless, and "enhancement gene therapy is straight out of fantasy land".[32] (b) Human Somatic Gene Therapy: The area of somatic cell gene therapy (SCGT) has generally been treated less controversially than germ cell gene therapy. Importantly, somatic cell gene therapy is argued not to pass on genetic alterations to future generations. In addition, those involved in somatic cell gene therapy are searching for therapeutic answers to genetic conditions. In the late 1980s and the early 1990s there were high expectations that the discovery of genes would lead quickly to ways of therapeutically altering these genes. The alteration was to be to somatic cells of the body (cells other than the germ cells). [Meccano Sets] The early promise of somatic gene therapy gave way to greater caution. An editorial in the prestigious journal The Lancet[33] argued that the early promise of gene therapy had been "over sold". There have been very few gene therapy protocols proved internationally with a distinct shift away from therapy of monogenetic diseases towards cancer treatment. In the USA, the Director of the NIH directed that clinicians should return to the laboratory and improve experimental techniques for further clinical trials. The focus of attention on somatic cell gene therapy is surprising given that as yet it has been applied on a very small percentage of the population. As Professor Alain Pompidou[34] has suggested there has been a "levelling off phase" as some of the early applications of gene therapy techniques have not matched expectations. The first approvals for the use of gene therapy were given in 1990 in the US for the treatment of adenosine deaminase deficiency (ADA sometimes called "bubble baby syndrome"). Approvals were also given for gene therapy on brain tumours.[35] Since then just over 200 other trials have been approved in the US, mostly for cystic fibrosis[36] and various forms of cancer. Europe has been much slower to take advantage of the technique, and in Britain only two trials were approved in 1993.[37] In Australia, the first trial was approved in 1995.[38] A number of reports from Canada,[39] Japan and members of the European Union[40] have come essentially to the same conclusions as the U.K. Clothier Report that SCGT requires the creation of no new ethical principles. In particular, the Clothier Report stated that somatic cell gene therapy is no different ethically from organ transplantation and blood transfusion. It was suggested that in fact there is an ethical obligation to pursue such research in order to alleviate suffering, but that it should be clearly limited to the treatment of serious or life-threatening disease in individual patients and where there is no other effective treatment. Most recently in Europe the Group of Advisers on Ethical Implications of Biotechnology of the European Commission released its opinion on The Ethical Implications of Gene Therapy[41] which outlines some of the more pertinent points, that: continued research into and clinical application of the technique should be encouraged; ethical evaluation is required and must have the three features of quality, transparency and efficiency, without introducing unnecessary delays; evaluation processes should be harmonised and standardised across Europe; appropriate measures should be taken to ensure equal access across Europe; and the technique should be restricted to serious diseases because of its present risk assessment. Human gene therapy is covered within the same regulatory regime as all other bio-medical research. The framework is basically the two-tier regulatory system recommended overseas, namely a requirement of adherence to NHMRC research guidelines administered by IECs and the overview of the Gene Therapy Research Advisory Panel.[42]This structure is similar to the United States,[43] Britain,[44] Canada,[45] Japan,[46] and Europe.[47] Interestingly, many researchers now believe that somatic cell gene therapy is more likely to be applied not to single gene defects, but to environmental and multi-factorial diseases.[48] In 1995, the NIH commissioned two committees to review the current state of gene therapy research in the US. The report of the first committee recommended that greater emphasis should be placed on funding of basic research and less on clinical trials.
3.3 Recognising the Moral and Social Implications of the Science
There have been discussions about the application of gene therapy to the developing embryo - germ cell gene therapy. The use of the word 'therapy' in germ cell gene therapy is a misnomer. It is in fact a euphemism for genetic embryo research on human embryos which is prohibited in humans. This technique involves inserting genes into the germ line cells: the eggs, sperm or early embryos. Consequently, the inserted gene will also be present in the germ cells and will be passed on to future generations.[49] There is international consensus that research in the area of germ cell gene therapy is ethically unacceptable. Since 1984, NHMRC guidelines have prohibited germ cell gene therapy.[50] The Convention on Human Rights and Biomedicine which was promulgated on 19 November 1996 by the Council of Europe states rather less strictly, that "any intervention seeking to modify the human genome may only be undertaken for preventive, diagnostic or therapeutic purposes and only if its aim is not to introduce any modification in the genome of any descendants" (Article 13).[51] This Convention is consistent with an earlier view of the European Council of Ministers in 1989 which prohibited germ cell gene therapy, whilst generally approving of the research and work on the HGP. In a similar vein, at a conference in Bilbao in 1993 four Nobel Laureates "... expressed anxiety about manipulation of human germ cell cells and the view that such experimentation should not take place at all in the current state of scientific knowledge".[52] Strengthening this view the Group of Advisors on the Ethical Implications of Biotechnology to the European Union (GAEIB) attempted an ethical evaluation of germ cell gene therapy but concluded that scientific uncertainties prevented them from evaluating risks and benefits. They recommended that the technique be forbidden on humans until the situation is scientifically clarified, at which point it should be ethically reevaluated.[53] Thus the majority view internationally is that germ cell gene therapy should not be undertaken with our present state of knowledge and expertise. More emphatically, the Council for Responsible Genetics[54] is unconditionally opposed to germ cell gene therapy. It has argued that the target population is future people, not those already suffering and therefore consent is impossible and accountability is unlikely. In addition, it also raised the issue that germ line gene therapy could be seen as treating people as "biologically perfectible artefacts" and those who are not perfect will be seen as damaged goods, thereby reinforcing prejudice and discrimination. Indeed, it has even been argued that the effects of germ cell gene therapy could extend to changing human identity, although this has been refuted.[55] Others also urge caution and restraint, arguing that somatic cell gene therapy is barely off the ground and it needs to be meticulously tested before any such techniques should be applied where there is any chance that they can be passed on to future generations.[56] In spite of this international expression of opposition some voices have been raised not in favour of germ cell therapy itself but in favour of maintaining reasoned debate in relation to the procedure. In the early 1990s John Fletcher and W. French Anderson[57] argued discussion should not be precluded on germ cell gene therapy. This view received some support in the Declaration of Inuyama,[58] of the Council for International Organisations of Medical Sciences which stated that while germ cell gene therapy is technically difficult and presently not possible, it may be the only means of treating some diseases and so discussion should continue. These lone voices have been supported by a number of prominent commentators who have expressed similar sentiments that there should be a re-evaluation of the ethics of germ cell gene therapy. In particular, Professor John Harris in his book Wonderwoman and Superman[59] and an issue of Politics and the Life Sciences discussed regulating germ cell gene therapy.[60] Whilst germ cell gene therapy has not been seriously debated, development in cloning technology has prompted a reassessment of legal restrictions on embryo research.[61] 3.4 Obeying the Precautionary Principle - Human Cloning[62] In science the precautionary principle demands that risks are carefully assessed and not unduly undertaken, where benefits are not readily apparent. Human cloning has been the subject of extensive international debate in recent years. Human cloning[63] can occur naturally when identical twins are born. But it has not been the splitting of an embryo but the technology of somatic cell nuclear transfer (SCNT) which has aroused international concern. The arrival of Dolly at the Roslyn Institute in Edinburgh in Scotland prompted an international discussion on the genetic engineering of individuals and whether homo sapiens may become homo proteus capable of being altered by genetic intervention.[64] Any effort to scientifically manipulate gametes or human embryos with the intention of creating a genetically identical individual, is in effect, a variation on the dominant theme of embryo manipulation and research. Cloning has to date meant the creation of genetically duplicated organisms rather than genetically duplicated individuals. Much of the modern recombitant DNA technology is premised on the ability to create clone libraries of fragments of DNA. Clone libraries exist around the world for the entire human genome. Clone libraries are invaluable research tools for locating individual genes within the genome by the process of hybridisation, whereby the cloned fragment attaches to a complementary sequence of bases on a single strand of DNA that has been separated from its pair. Once the gene has been located it can be sequenced and it can itself be cloned.[65] Once the gene is sequenced and cloned, the development of a genetic test for the gene is made possible. The term 'cloning' is imprecise. When used in the sense of "making a copy" is not a precise term and has developed a "social" meaning referring to the cloning of a genetically identical human being (comparable to the film of 'Boys from Brazil'). Genetically identical human beings can be created when a human embryo splits. Theoretically, this may be done through asexual reproduction, by stimulating a single egg cell to commence cell division. In the Dolly technology a somatic cell nucleus was introduced to an enucleated stem cell. The imprecision of the term cloning led Dr Harold Varmus, Director of the National Institutes of Health in the United States, to submit to the Senate Committee of Inquiry into Cloning that prohibitions should not be introduced. He was concerned that, if the term was used imprecisely, a prohibition had the potential to inhibit desirable developments in future research and could possibly prohibit some current research projects such as positional cloning. The American Report on Cloning did not seek to impose a comprehensive ban in case this affected possible beneficial applications of the technology, a decision which demonstrates that attitudes to cloning are developing. A similar sentiment underlies the British[66] and Australian[67] reports. Cloning of a human being has been condemned universally. The UNESCO Declaration on the Human Genome and Human Rights provides in Article 11 that "[p]ractices which are contrary to human dignity,[68] such as reproductive cloning of human beings shall not be permitted".[69] The Council of Europe has also addressed the issue of cloning by adding a Draft Additional Protocol to its Convention on Human Rights and Dignity with regard to the application of Biology in Medicine. The Draft Protocol on Prohibition on Cloning of Human Beings states that: "Any intervention seeking to create a human being genetically identical to another human being, whether living or dead, is prohibited. For the purpose of this article, the term human being "genetically identical" to another human being means a human being sharing with another the same nuclear gene set".[70] The effect of this protocol is to ban the cloning of human beings by embryo splitting or nuclear transfer (the SCNT). A large number of European countries have specific legislation prohibiting cloning intended to produce genetically identical individuals.[71] On the other hand, some major jurisdictions have been less hasty in introducing legislation banning the procedure. For example, in the United States the National Bioethics Advisory Commission (NBAC) Report, Cloning Human Beings recommended legislation combined with a moratorium.[72] The (NBAC) however, cautioned that "any regulatory or legislative actions undertaken to effect the foregoing prohibition on creating a child by somatic cell nuclear transfer should be carefully written so as not to interfere with other important areas of scientific research".[73] Canada is considering its response to the cloning issue.[74] Australia has shared in this international concern over the possible mis-use of the technology which produced Dolly in the cloning of identical human beings. Victoria, South Australia and Western Australia have introduced legislation to regulate in vitro fertilisation and this legislation also prohibits cloning. Importantly, the revised NHMRC Ethical Guidelines on Assisted Reproductive Technology released at the end of 1996 reproduced the 1984 prohibition on cloning or experimentation with the intention of cloning an individual. These guidelines operate nationally. Although Queensland, Tasmania and New South Wales have not introduced legislation, there is a degree of regulation through the constraints of the Fertility Society of Australia which has a separately constituted Reproductive Technology Accreditation Committee which accredits IVF clinics and which follows the NHMRC Ethical Guidelines on Assisted Reproductive Technology. These guidelines prohibit "[e]xperimentation with the intent to produce two or more genetically identical individuals, including development of human embryonal stem cell lines with the aim of producing a clone of individuals".[75] No prohibition, however, was placed by the Council of Europe on cloning cells nor did it deal with the question of embryonic stem cells in cloning. In a similar vein, an Australian Commonwealth Ministerial Report[76] recommended that the Commonwealth Government should reaffirm the UNESCO Declaration on the Human Genome and Human Rights, in particular Article 11, which "... reproductive cloning of human beings, shall not be permitted." More importantly, this Ministerial Report did not close off the examination of the possible benefits of embryonic stem cell technology and recommended that there should be community discussion "... on the possible therapeutic benefits and possible risks of the development of cloning techniques."[77] This Recommendation is consistent with other Reports, particularly the Report from the United Kingdom[78] which supported the issue of licences by the Human Fertilisation and Embryology Authority to allow research on human parts to investigate the potential benefits of the techniques to mitochondrial diseases and damaged tissues and organs.[79] The debate about whether cloning procedures should be banned entirely or whether "therapeutic" experiments should be carefully regulated continues against the background of the scientific precautionary principle.[80]
3.5 Privacy Concerns
Many of the ethical and regulatory issues in genetic screening are known. There is great potential for emotional distress and suffering when confronted with the results of a genetic test but a small but growing number of accredited counsellors.[83] Genetic counsellors[84] are already developing responses and procedures for dealing with those confronted by the results of existing genetic tests. The accepted critical component of genetic testing and screening is the requirement of individual informed consent and the consequent right of the individual to abstain from taking part in a genetic screening or undergoing a genetic test. As an extension of informed consent an individual should receive clear information about the chances of false-positive and false-negative results and whether information is kept in an identifiable form. In addition, many genetic tests do not provide definitive results but rather produce results which suggest the probabilities of having a genetic condition. Thus a particular challenge for genetic counsellors is to interpret genetic test results. Finally, individuals have the right to continue to live their lives as they so choose (where for example, the screening uncovers a potential to contract a disease where there is an increased risk unless lifestyle is changed). There are no generally agreed principles for deciding when, and for what conditions, genetic testing on individuals or population screening tests should be introduced.[85] In the United States, a consensus was reached with respect to the ethical acceptability of some forms of genetic screening. There it was suggested that:
A later Report in the United Kingdom by the House of Commons Science and Technology Committee (the Shaw Committee Report) reinforced these suggestions. The Report specifically referred to the problems associated with testing for late onset conditions. It recommended that extensive counselling and follow up support should be provided for adults coming forward for this testing.[87] Further, the Committee expressed the belief that children should not have genetic diagnosis for late onset disorders. The Committee found that such diagnosis is only justifiable if those requesting it have fully considered all its implications.[88] This cautious ambulatory approach by the Shaw Committee is also demonstrated by one of their recommendations in relation to neo-natal screening, namely that "there should be no mass screening for public health reasons in childhood unless a treatment for the disorder exists".[89] There are some general areas of concern, however, in relation to testing individuals. First, as discussed above there is a need for the community to accelerate discussion and consideration about acceptable boundaries in judging genetic "conditions", "diseases" or "abnormalities". These terms are questionable medical labels which may sometimes lead to dubious social, rather than medical, assumptions or conclusions. For example, people, the infamous Francis Galton[90] described as the "unfit, lunatics, evil-minded, habitual criminals or paupers" to be bred out of the population would not and should not be similarly described at the close of this century. Many conditions from the last century which were classified as mental illnesses are now perceived as perfectly benign. The new genetics may not raise any new issues about the meaning of disease but it certainly accelerates the need for greater community enlightenment on notions of normality and greater promotion of community acceptance of diversity. There are imprecise boundaries between what is considered a disease and a merely undesirable condition. Secondly, pre-natal genetic testing[91] will offer parents wider possibilities for "made-to-measure" babies rather than healthy babies free of disabilities.[92] The potential for abuse by the increased use of pre-implantation genetic diagnosis has been highlighted in France by Professor Jacques Testart who was responsible for the first French IVF baby.[93] Thirdly, there is a potential for commercial exploitation of consumers. There are increasing efforts to commercially promote the use of genetic tests which are costly and of questionable predictive value without proper, professional genetic counselling. (a) Banking of Human Tissue: Apart from these general concerns, specific privacy concerns arising in testing in relation to banking of tissue and use of genetics in relation to banking of human tissue and the use of genetic information. The capacity of scientists to carry out genetic tests extends to tissue samples which are already held by hospitals and other health institutions. The need to establish systematic guidelines for the use of human tissue samples has already been considered and addressed in a number of jurisdictions.[94] The issue is more pressing and complex where genetic tests are involved as the information which can be uncovered can, as with other genetic information, involve extended family or group members. Issues of consent or continuing consent to the use of the tissue, consent to the use of tissue for other purposes, intellectual property rights and the right not to know are involved in the creation of operational guidelines for the use of human tissue or the approval of research protocols.[95] (b) Privacy and Confidentiality in Relation to Genetic Information:[96] Few medical records are now held on old fashioned index card systems. Sensitive personal medical information is usually stored on computer databases with all the attendant possibilities of breaches of privacy, either intentional or unintentional. Population health specialists are expressing concern that privacy considerations are inhibiting their capacity to undertake meaningful population studies.[97] Individual worries about the release of genetic information (which will divulge information about future generations) must be weighed against the social interest in epidemiological research. For example, a study on the side effects of drugs could not be conducted if every single person whose data was being used in the study had to give consent. The project would prove unworkable, yet such research may uncover the many connections which throw doubt on the drug therapy in question. Public health research can also uncover vast amounts of information about the genetic makeup of a community.[98] There is a rather unsatisfactory pre-existing patchwork of legal and ethical standards in this area.[99] There has been a tendency to suggest that the creation of genetic registers is something new and something which poses entirely novel problems. Questions of disclosure, creation, storage and access of personal information have already confronted record keepers of medical records and other databases.[100] The nature of personal genetic information, however does raise some novel twists on the existing knowledge on the creation, management and access to genetic databases. First, the United Kingdom's Nuffield Council on Bioethics, in its 1993 Report on Genetic Screening: Ethical Issues recommended that the accepted standards of confidentiality with respect to medical information should be followed as far as possible. When information is revealed that may have serious implications for relatives of those who have been screened, however, it was recommended that health professionals should seek to persuade individuals, if necessary, to allow the disclosure of relevant genetic information to other family members.[101] Subsequently, the Shaw Committee Report recommended that if an individual cannot be persuaded to share this information their right to privacy must be respected.[102] In other words the Shaw Committee has accepted a developing international view that individuals have a right "not to know" about genetic information in their family.[103] Secondly, experts in the field of genetic testing suggest that in the next few years it will be possible to run a range of highly sophisticated tests, the information from which could be kept on a computer chip. There are real dangers of accumulating data the technicalities of which are understood by few. Thirdly, the contemporary fervour to privatise public institutions and departments has also seen the privatising of traditional public service culture and traditions. Whereas public employees are required by contract, statute and tradition to jealously guard secrets, private companies are motivated by profit and, most seriously, are beyond the remit of current government focused privacy legislation.[104]
3.6 Respect for Persons - Consent
3.7 Discrimination
Legal and ethical considerations should not limp behind scientific developments in genetic research.[111] (a) Discrimination: Employment and Insurance:[112] The 20th Century report card on discrimination over gender or race, age or disability makes poor reading. Genetic discrimination in employment or admission to pension and superannuation schemes and life insurance is a matter of international concern. It is feared that genetic discrimination will be added to the sorry report card. The issue is whether safeguards should be introduced to protect citizens from differential treatment or discrimination on the basis of genetic information. There is a record of new technologies also serving the interests of groups or agencies as well as the individuals to whom the new technologies are directed. DNA test results may be of great interest to individuals but also insurance companies and employers who could use the information to restrict coverage or to terminate employment. This major concern has received broad interest.[113] Many countries around the world have moved to restrict the availability of genetic tests to insurance companies (e.g., Belgium, Austria, Denmark, Norway). The Nuffield Council on Bioethics[114] proposed a moratorium for moderate policies on genetic tests, and that the moratorium should only apply on moderate policies and not on very large policies.[115] Interestingly the Association of British Insurers has suggested that less than 1% of proposals for life insurance, including those for genetic reasons, are declined on the grounds that mortality risks being too high. In any case, those genetic cases in the 1% of policies declined are rarely based on DNA tests but upon the basis of existing family history of genetic inherited diseases. The insurance companies have also tried to assuage public concerns by suggesting:
In spite of such comments by the insurance industry, there are suspicions that once genetic information is available insurance companies will want the information. There have been comments to the effect that the insurance industry may wish to challenge the long standing community risk sharing principle in response to the commercial pressures which may exist. It is also important to note that there has been a tendency to talk about genetic tests as if they are sophisticated, highly reliable and certain. Many genetic tests are being developed not all of which fulfil these criteria. Some insurance companies are simply ill-equipped to assess the technical medical aspects of genetic tests and the relationship of a positive result to the risk involved. In addition, the actuarial tables, upon which life insurance is based have not altered to any degree with the growth of gene technology and have not, in fact altered for more than a century. Regulation is being considered in most jurisdictions and article 6 of The Declaration on the Human Genome and Human Rights addresses the issue of non-discrimination based on genetic information. At the European level the Council of Europe has published non-binding guidelines recognising the dangers of discrimination and social stigmatization which may result from genetic information and have recommended "insurers should not have the right to require genetic testing or to inquire about the results of previously performed tests, as a precondition..[to].. modification of an insurance contract".[116] The current attitude of the Investment and Financial Services Association Ltd (IFSA) (previously known as the Life Investment and Superannuation Association of Australia (LISA)) is to require the disclosure of genetic test results consistent with the general "utmost good faith" requirement of disclosure in insurance contracts. However, the Federation does not compel individuals to undertake a genetic test.[117] Interestingly, the ethical basis for most forms of insurance is that all in the community share the costs of those who have been less fortunate. Laws may be required to ensure that insurance companies behave responsibly and take a fair share of the risk market. Laws may be required not simply to prevent an individual company taking advantage of the market but also to avoid inequality in the sense of disadvantage between companies. Australia, unlike the United States, has a universal health care system. The National Health Act 1953 (Cth) is based on "community rating" and a registered health organisation cannot refuse an applicant on the grounds of their state of health.[118] This fact virtually eliminates some of the concerns in Northern American literature about this problem in relation to health insurance. On the other hand the problems can, and in a few instances do occur in the life insurance area.[119] Insurance companies may still be interested in genetic risk when considering life insurance which may be required to support a home mortgage.[120] Some forms of life insurance and superannuation include elements of disability and sickness benefits payable under the policy. In these circumstances the potential for exclusion of applicants on the ground of genetic information does arise. The Life Insurance Act 1995 (Cth) sets up the potential safety standards for insurance companies in this country. Actuarial tables are prepared by the Institute of Actuaries and are updated every four or five years. An insurer already has the capacity in some ways to differentiate between applicants for insurance by asking questions about medical history or family history. Importantly, the Disability Discrimination Act 1992 (Cth) provides that it is not unlawful for a person to discriminate against another person on the ground of the other person's disability by refusing to offer, or altering the terms and conditions of a life insurance policy or any other policy of insurance cover provided that the discrimination is based upon actuarial or statistical data on which it is reasonable for the insurer to rely and the discrimination is itself reasonable having regard to the matter of the data and other relevant factors.[121] There are similar provisions in the various state and territory anti-discrimination legislation.[122] This legislation essentially allows differentiation but not discrimination unless it is based on actuarial evidence and relevant grounds. Aside from the possibility of pursuing a discrimination claim an aggrieved individual has little scope for redress since the Life Insurance Complaints Service does not have jurisdiction to deal with complaints regarding level of premiums, rejection of cover or imposition of conditions based on underwriting or actuarial factors. The major argument for allowing insurance companies access to genetic information is to protect them against adverse selection under which individuals, aware of their higher risk status, may purchase or increase insurance cover. It is argued that if insurance companies are denied information about results obtained, widespread adverse selection may threaten the solvency of life insurance companies, particularly if there is a converse trend for those whose genetic test results indicate very low risk of early death not to take out life insurance.[123] But this must be balanced against arguments which suggest that if insurers had ready access to genetic information there might be a smaller market for suitable insurance for individuals.[124] Additionally, there is a possibility that the use of genetic testing information could lead to a tendency to deter at risk individuals from undertaking testing and possibly affecting their health. This point was prominent in the Nuffield Council[125] and Shaw[126] Reports. This concern is intensified in the problematic area of genetic testing of minors. There are some conditions which are best tested for in childhood but this responsible action in relation to health may have an impact on the child's later ability to secure life insurance. The UN Conventions on the Rights of the Child,[127] which has been signed by Australia, requires that the interests of the child are not compromised. The European Parliament and the Council of Europe as well as some individual nations have prohibited the use of genetic information on an individual's health status by insurance companies.[128] In a number of European countries a "ceiling" has been introduced to preclude use of genetic information for the purpose of underwriting smaller policies.[129] This approach was adopted and recommended by the HGAC in the UK as it was too early to reach any valid actuarial conclusions on the relationship between genetic tests and life expectancy.[130] The ceiling approach is satisfactory provided it is backed up with a vigourous industry-based Code of Practice.[131] In its recent report the Human Genetics Advisory Commission of the UK[132] noted however, that there was little statistical evidence of individuals being deterred from taking genetic tests because of fears of discrimination by insurers. (b) The Human Genome Diversity Programme: DNA analysis has been applied to investigate the beginnings of homo sapiens. For example Dr Svante Pääbo at Munich University[133] has suggested that Neanderthal man is not our ancestor but more likely is the African connection. In addition, DNA sampling techniques are being used to study the genetic diversity of the human species. The Human Genome Diversity Program (HGDP)[134] has the goal of finding out "who we are as a species and how we came to be". The project envisages collecting samples of DNA to represent the world population, and making them available to interested scientists for genetic studies of normal and pathological variation. Among the projects scientific goals are the generation of data which can help to construct the history of development, migrations and expansion of human population ("the history of development and migration of the different human populations; the impact of evolutionary factors.....; the spread, at the world level of many genes of actual or potential importance for disease") Dr. Luigi Cavalli-Sforza has been a prominent international advocate for this research. He justifies the HGDP on the basis that it will lead to the establishment and strengthening of connections with other related approaches from anthropological (physical and cultural), historical, archaeological and linguistic studies on the impact of evolutionary practice involved in human chains and the spread at the world level of many genes of actual or potential importance for disease and therapy. According to Cavalli-Sforza, DNA analysis can supply better data and a deeper understanding of the human genome than studies limited to the analysis of proteins, carried out when DNA could not be studied directly .... the increasing dispersal of people all over the world observed today will only suppress a great deal of historical information which can still be recovered but not for much longer".[135] The HGDP objective is to "preserve cells from diverse aboriginal populations around the world in order that students of human genetics will have access to 'exotic' gene pools".[136] There has been controversy over the proposed HGDP. The political and ethical dimensions of this project are clearly substantial: "[I]n its conceptualisation [it] emphasises biological difference among human populations" there are "dangers and inaccuracies in 'exoticising' cultures and in conceptualising them as 'isolates' or 'dying out'". In the developed world the concept of informed consent to medical research has become the paramount standard. However, doubts have been expressed about whether "primitive races" who will be studied can give any genuine informed consent and whether consent should be sought from all the members of a group where the results will bear on the group as a whole. The HGDP has met with extensive opposition from indigenous groups throughout North America and the Pacific who have declared that they "reject all programs involving genetic technology ... [and] .... oppose the Human Genome Diversity Project which intends to collect, and make available our genetic materials which may be used for commercial, scientific and military purposes". The opposition may be based on a deep and continuing suspicion about colonisation which is suspected as having been ".... to appropriate and manipulate that natural order for the purposes of profit, power and control"[137] This opposition has been especially prominent in the USA where it is not yet clear whether it will be funded. If this project is to, amongst other things, "debunk racism" considerable explanations and assurances must occur before it can be undertaken. This is the Australian Aboriginal view. However, there are HGDP-like projects already underway in China and Europe (Origins of European Peoples). It is critical that divisiveness is avoided in this area of research. It should be recognised that DNA testing is not always welcome e.g. American Indians and the HGDP. The HGDP is under the oversight of UNESCO and its International Bioethics Sub-Committee. HGDP may not be well contained within the wider HGP.
3.8 Commercialisation
There are now some 200,000 people working in over 1,000 biotechnology companies and this does not include academic or government scientists.[141] The international accountants Ernst and Young estimate that by the year 2000, two million jobs will be created in the biotechnology industry which will have a turnover in Europe of some US$100 billion.[142] To give but one example Factor VIII is the current blood clotting treatment for haemophilia. The American company Genetech, has developed a genetically produced alternative which is not derived from whole human blood and has therefore advantages of safety, purity and, arguably, efficacy. However, free access on the Pharmaceutical Benefits Schedule has been estimated would increase the Australian health budget by some A$70 million. There is no question that the pricing of medicines must cover developmental research costs but the actual cost to the national health system must be examined. There is of course the subsidiary question that North America, Europe and Japan dominate genetic biotechnology to the exclusion of the developing world. Control of the biotechnology industry could enable a small number of countries to dominate the markets in therapeutics, new generation vaccines, gene therapy, diagnostics and new pharmaceuticals (molecular "pharming"). There is an existing regulatory framework for dealing with pharmaceuticals. In Australia drug trials and drug marketing are controlled by the Commonwealth Therapeutic Goods Administration supplemented by NHMRC Guidelines and international codes of good clinical practice for the conduct of clinical trials. In addition, the Australian Drug Evaluation Committee and the Pharmaceutical Benefits Scheme can limit the drugs and devices for which Medicare rebates will apply. There are controls on the direct advertising and marketing of prescription drugs to the public. These controls also apply to modern "indirect" marketing techniques by pharmaceutical companies which direct potential consumers to seek advice from their doctor.[143] On the other hand there is a demonstrable absence of equivalent regulation on genetic tests for conditions, disease susceptibility or carrier status.[144] (a) Culture Change: Growing commercialisation has radically altered both the culture of research, especially in universities, and the traditions of publication of results in wide-circulation journals. The new closed research culture poses different problems from those associated with research conducted in the public sector. Whilst it is clear that some form of security for investment in genetic research beyond mere publication rights must be guaranteed to encourage investment to continue, public accountability must also be ensured. Eisenberg discusses the Janus-faced dilemma of scientists in biotechnology who must deal simultaneously with norms and rewards of research science and rules and incentives of intellectual property.[145] This problem is exacerbated as the traditional dividing line between basic and applied research becomes blurred. (b) Patenting: In this area control is important and patenting of genes[146] has become a hotly discussed and disputed area. Patents have been the usual guarantee of protection for investment in new technologies, but they may not be appropriate in the area of human genetics. The division is between scientists who believe that gene identification is simply the discovery of something which already exists and is therefore not patentable and should remain public domain, and those who say there is an invention which is patentable as with any other process. There are vast financial interests in patenting genes in relation to plants and animals. The patenting of the human genes is far more controversial and has attracted international attention because of failed attempts made by the NIH to patent partial gene sequences of unknown function.[147] The general view held in a number of countries is that it is ethically inappropriate to patent sequences of DNA whose functions are unknown.[148] There have been some successful gene sequence patents granted in 1997.[149] Nevertheless, attempts to develop an international patents treaty would appear to have been rejected by the United States.[150] Most of the work in sequencing human genes is being undertaken within the Human Genome Project. The sequencing is half way through its 15 year programme but still only some 3% of the genome has been sequenced. There are doubts whether the tasks will be completed by the target date of 2005. Dr Craig Venter has proposed that his non-profit Institute for Genomic Sciences in collaboration with Applied Biosystems (a division of Perkin-Elmer Corp) will try to sequence the whole genome itself. This could be considered hubris from most scientists but Venter has a distinguished record in this area. This database would supersede Genbank, the data bank operated by the NIH in the United States and would be accessible by researchers. There appears to be less difficulty, under present patent laws, in patenting gene sequences and their applications when their function is known. It has been estimated that there have been 40,000 applications for patents of biological material and human genes and sequences of DNA in the USA. Clearly the United States has a considerable interest in patenting as it has been both the major research centre and the major contributor of funds. On the other hand, countries such as France have prepared laws which will outlaw and prevent the patenting of human genes or genetic sequences.[151] Clinical geneticists in Britain have also expressed great concern over the issue, both on moral and ethical grounds and because they believe it will lead to withholding of results until patents are issued.[152] In addition, medical institutes may face huge fees and royalty payments for the use of particular screening tests.[153] The European Parliament began the debate on the patenting of human genes on 15 July, 1998 there already being a directive permitting patenting.[154] Patenting of isolated gene sequences and their applications create a number of issues relevant to both scientists and commercial interests. The breadth of patent protection being claimed in a number of areas of biotechnology raises concerns, particularly because the European Patent Office is apparently prepared to accept patent claims having extensive coverage. In 1994, for example, a patent was granted covering all genetic manipulation of soy bean plants. Concern has been expressed by both scientists and industry that if patents are too broad research will be inhibited, either because it will inevitably lead to patent infringement or it will be unpatentable because it is obvious. The recent British House of Lords decision in Biogen indicates that this Court, at least, will not support broad patent claims.[155] Patenting of human genes engenders far more personal feelings within the population. For example, a meeting of some 200 religious leaders from a broad spectrum of different faiths petitioned the US Patents and Trademark Office to end the patenting of life forms for profit on the basis that God's creations cannot and should not be owned as human inventions.[156] The notion of commercialisation of our health care raises questions as to our basic rights of autonomy and privacy, and potential problems of conflict of interest in our health providers. Denial of patent rights may temporarily delay investment, but companies will inevitably find other means to protect that investment, for example through trade secrecy. It is much more likely that the consumers and the scientists will be the ones who suffer detriment, through increased costs and denial of access to information. For one, Belgian liberal Senator, Philippe Monfils, had suggested that the European Patent Office examine problems in relation to patenting of biotechnology and human beings "in terms of specific cases without theoretical perspective, and in an environment where patenting is the norm and commercial considerations are omnipresent".[157] It is critical both on a national commercial-interest level as well as the ethical level that the debate about patenting proceeds on an informed basis. The debate should not be about whether to patent but about how the patent system can secure or at least serve public interests. It should always be remembered that the patent is a monopoly but it is limited in duration and, more importantly, brings information into the public domain. There are real concerns that some important work is kept commercially confidential and that this tendency may increase if patents were restricted. Some of the problems in patenting could be addressed by reconsideration of aspects of the current legislation. Problems of infringement of broad patent claims could be alleviated by compulsory licensing, provision for which is present in both the British and Australian legislation.[158] There is little agreement, however, as to how licence fees should be set.[159] Guidelines are clearly required in this area so that licence fees can be factored into research costs. In the US the defence of experimental exemption from liability is available against patent infringement. To date the exemption has been read narrowly.[160] Many of the hardships created by the patent system could be softened if this defence was given greater force, and even given statutory recognition. For example, it may be appropriate to allow all forms of basic research exemption from liability. (c) Transgenics-Human, Animal and Plant Genes: While it is not for the patent system to decide whether genetic research in itself is ethically acceptable, the patent system is being drawn into the debates on the ethics of human genetic research. Interestingly, the patenting of such work in the animal and plant areas has aroused far less concern than, say, the human cloning debate. The confluence of work in human, animal and plant genetics is likely to have an impact in future years on the human genetics debate. Patenting of biotechnological inventions in general continues to raise wider ethical issues at an international level including the potential for reducing biodiversity and creating monopolies in agricultural seed and livestock producing companies and pharmaceutical companies. These are matters which directly affect Australia's national interests. This transgenic work is concentrating into the two powerful trading blocks of North America and Europe, will likely widen the gap between the developed and the developing world. Genetic engineers generally have been able to clone animals, produce genetically altered pest-resistant crops, create transgenic plants and cross genes between humans and animals and even humans and crops. Darwin's hypothesis in the last century that all living things are related is being confirmed by much of the transgenic research.[161] Professor Annas has summoned up analogies with the creatures on the island of Dr. Moreau. Considerable effort is being expended crossing human genes into animals, particularly pigs with the aim of producing new medicines and vaccines. There are serious efforts to develop compatible transplantable animal parts through transgenics (referred to as xenotransplants[162]). Xenotransplantation[163] is being examined as a means for replenishing the diminishing supply of human body parts for transplantation and substituting scarce supplies of whole blood and blood products. However, there are serious concerns that xenotransplantation may pose a serious risk to the community through the possibility of introducing animal viruses or new pathogens into human beings. Most scientists are urging that the "precautionary principle" must be followed as there are real risks of pandemic outbreaks.[164] The precautionary principle requires that progress in this area be slow and cautious to avoid these risks.[165] One company in particular, Novartis, has been investing heavily in this area of research and has been estimated to control half of the world wide transplantation drugs and xenotransplants in the next century.[166] After Dolly[167] came little Polly (a lamb into which human genes have been inserted) both of which endorse the remarks of Professor Steve Jones, Head of the Department of Genetics at University College, London, who accepts that biotechnology is "interfering with nature".[168] Thus far the problems of hyper-rejection of organs in efforts of animal to human transplants has been insurmountable. Nevertheless, enormous finances[169] have been invested particularly in relation to developing genetically modified pigs as a source of animal parts for human transplantation.
3.9 Regulation
The United Nations has been concerned for many years about the wider issues of scientific progress and its applications and implications for the integrity, dignity and human rights of individuals. The United Nations Economic and Social Council, for example, concluded that: ".... the rapid development of science and its technological applications... have not been accompanied by an appropriately urgent, profound and continuous consideration of their implications for human rights".[171] These remarks echo concerns at the widest international level - similar sentiments have been expressed in Papal Encyclicals,[172] by the International Bioethics Committee which was created by UNESCO,[173] the Council of Europe[174] and the World Health Organisation.[175] All these organisations recognise the unavoidable tension which always exists between the promotion of freedom in research and the imperative of doing no harm.[176] In this complex territory spanning pure research, commercial development, medical and health application interwoven with policy, principle, ethics, and new special perspectives, traditional legal regulation is not the sole vehicle for protecting the common good. Regulation is not limited to formal lawyer's techniques of legislation or judicial pronouncement. There are administrative controls through national commissions and the like which publish enforceable guidelines and review structures (such as research ethics committees and national bioethics bodies) which apply fairly established ethical principles[177] consistent with developing international norms.[178] There is an absence of structures to consider and advise upon these transgenic developments. The Genetic Manipulation Advisory Committee (GMAC) monitors the safety aspects of all genetic manipulation work, its primary concern being to prevent the escape of genetically modified organisms into the environment. Consideration should be given to whether GMAC should be restructured to review the "big picture" of genetics, particularly in relation to the intersection between genetic research and application between plants-animals-humans. GMAC already assesses proposals for research involving genetic manipulation and requires any institution involved in such work to abide by GMAC guidelines and to establish its own institutional biosafety committee (IBC). All proposals for human gene therapy work require GMAC advice and IBC approval.[179] The current dual avenues for ethical review in respect of research in humans and in respect of animals may need to be brought together. The need to search for community views and values in this area is self-evident. Within Australia, the peak professional body, the Human Genetics Society of Australasia has close to 800 members representing the many disciplines currently working in human genetics. The Human Genetics Society of Australasia sets and certifies professional competency standards in a number of areas of human genetics, as well as providing a forum for dissemination of information concerning new developments in this area. The Society is now in its twentieth year.[180] Australia has also set up an inter-disciplinary body, the Australian Health Ethics Committee which is required by statute[181] to conduct a two-stage public consultation on any matter referred to it for consideration. This debate will also be conducted internationally in the expanding family of national bio-ethics committees of which there are now some 30. The United States President appointed the National Bioethics Advisory Commission to make recommendations on human experimentation and human genetics. The United Kingdom has established a Genetics Advisory Commission[182] which, inter alia, is to promote public debate and discussion and a Genetic Testing Advisory Committee.[183] The Danish Council of Ethics has produced much distinguished work in the area of genetics and the French National Consultative Ethics Committee for Health and Life Sciences has been operating since 1983. The French Committee gives opinions on problems raised in the fields of research in biology, medicine and health. These opinions are not the same as legislation because the Committee sees itself as a consultative 'think-tank'. It should also be noted that the Convention on Human Rights and Biomedicine promulgated by the Council of Europe in November 1996, Article 28 requires parties of the Convention to "... see to it that the fundamental questions raised by the developments of biotechnology and medicine are the subject of appropriate public discussion in the light, in particular, of relevant medical, social, economic, ethical and legal implications, and that their possible application is made the subject of appropriate consultation". Regulation of some aspects of human genetics will have to be harmonised internationally. Particularly in the area of xenotransplantation, the risk to the entire human population from the creation and escape of a virulent pathogen supports strongly the creation of internationally consistent standards of regulation. If scientists in the United States and United Kingdom introduce high standards of regulation on xenotransplants to reduce the risk of introducing such pathogens their efforts could be in vain if some countries adopted weaker standards. Regulation in one country clearly impacts on another. For example, there was a proposal that the Swiss Constitution be amended by the introduction of a "gene protection initiative" which would have prohibited the use of transgenic animals for any purpose. Such regulation would have obvious impact on multi-national Swiss pharmaceutical companies like Novartis and Roche, both located in Basel.[184] There is the possibility of "xeno-havens" in countries where some scientists or surgeons did not follow the higher standard of regulation.[185]
3.10 Equitable distribution of benefits
".....[t]here is a general recognition of the need for international cooperation in order to ensure that mankind as a whole, benefits from the life sciences and to prevent them from being used for any purpose other than the good of mankind".[189] There is an urgent need for an informed community discussion on how to preserve some of the sacred principles of universality and non-discrimination within current health systems. Some conclusions on GeneticsThe challenges posed both by new technologies and by scientific research are frequently the same. How is a society to harness the promise of potential benefits of the technology or research and, at the same time minimise or avoid the threat of possible risks? These challenges transcend national boundaries; benefits and risks must be identified at the international as well as the national level. International scientific research on human genes is throwing up many core ethical, legal and social issues such as patenting, privacy and accountability. It is highly desirable that these core international issues should be governed by the same, or at least closely harmonised international regulations and standards. I have a number of concluding remarks. At the top of the list must come a plea for scepticism; it is very important that we are sceptical about reports in the area of genetics. What can we finally conclude about this breathtaking science? Essentially no conclusions can be drawn with definitive confidence. Arguably, even a statement that "genes consist of DNA" is not a complete statement. Genes account for only about 5% of our DNA and apart from the four nucleotide bases the remainder has the superb title of "junk DNA" although this is very unlikely to be an accurate title as further research unfolds.[190] In addition, a gene probably cannot be described simply as a piece or segment of DNA somewhere on a chromosome. A gene has a function; a gene most probably interacts with the environment but they are also part of the continuing evolutionary information in the development of life. A gene is both "a discrete structure and a continuous variable".[191] Getting the facts right can be difficult as there are frequent exaggerated claims in the media (e.g. in Papua New Guinea there was a cause celebre where the Hagahai people of the Highlands were alleged to have been used to extract blood samples for the development of an HTLV-1 genetically derived serum. The international coverage was actually inaccurate). Moreover, the sequencing aspect of the Human Genome Project may be completed by 2003 and many genes will be identified, for example in relation to blood groups, enzymes, hormones, growth, cancer and, most controversially genetic disorder. However, this sequencing of all the DNA bases and identification of genes will not necessarily, at this stage of scientific knowledge, imply either knowledge of the function, variations or variation in phenotypic expression of these genes. The civil libertarian should jealously assert that civil liberties are not based upon our genetics. Many heritable qualities are simply not measurable and "equality is a legal and moral standard which is unrelated to the HGDP". The concept of gene or 'disease' of a gene does not and should not make us forget the sacred individuality of sick people.[192] Equality, non-discrimination and respect for persons are all legal and ethical standards which are unrelated to our genes and are nothing to do with the HGP. Arrestingly, the new genetics may accelerate our rethinking of current ideologies. For example, "rights-based" approaches to ethics have been immensely influential but may not sit comfortably with familial obligations in the context of human genetic information. Movements from rights to duties can be identified in the Declaration on the Human Genome and Human Rights expressly refers to a notion of a "practice of solidarity"[193] which states should respect and promote towards individuals, families and population groups which are particularly vulnerable or affected by disease or disability of a genetic character. Certainly, human genetic information is simply not individual information for it has the capacity to speak about families and population groups. Advocates argue that the so-called New Genetics[194] will have profound changes on the current practice of medicine.[195] There will be a shift from intervention and therapy towards prevention and prediction based on genetic information on individuals. This possible jump-shift towards predictive and preventive medicine invokes the Ancient Greek Gods of Hygeia, and Asclepius, who looked after the preservation of health and the curing of disease respectively. This dichotomy must not be too sharply drawn between genes and gene therapy. The interaction of genetics and the environment makes definitive statements about the role of genes in health and disease problematic.[196] Human genetic research is at a far earlier stage of development than the genetic achievements in plant and animal genetics. The community can be forgiven for thinking that the promise of genetics is not yet matched by the reality. However, the promising work in human genetics is laborious and complex and the prospect of any kind of cure for non-genetic disorders is far too distant to be considered a reality. Once all the genes are identified, which is still some years off, the functions and relationship between genes will have to be researched. A later generation of researchers will have to analyse the interaction between genes and the environment before therapies can be realistically considered. Finally, the limits of genetic tests should be noted, genetics susceptibility is not genetic inevitability. Human genetics offers a panoply of possibilities for health, the health of future generations and possibly a deeper understanding of humanness; the new genetics should not become an enemy of its own promise. Last wordsThe librarian should become an activist in the process of change from hard copy to digital information access. The information market needs not only quality control but some navigational channels marked out for the public non-expert passengers; librarians should serve as the navigators, by reason of their professional training, skills and experience. The "knowledge-value revolution"[197] demands that a dis-interested group in society, such as librarians mitigate the information market place and marshall the knowledge benefits of this luminescent technology. "In terms of change, learners inherit the earth, while the learned find themselves beautifully equipped to deal with a world that no longer exists" (Hoffer) BiographyProfessor Donald Chalmers, Professor of Law is Dean and Head of the Law School at the University of Tasmania and also Chairperson of the Australian Health Ethics Committee. He is also a member of the National Health and Medical Research Council. He chaired the Tasmanian Enquiry into Artificial Conception in 1985, was a member of the National Bioethics Consultative Committee and has been with the Australian Health Ethics Committee since 1991. He chaired the Commonwealth Ministerial Review of the National Institutional Ethics Committee system in 1995. He represented the Australian Health Ethics Committee at the San Francisco and Tokyo World Summits of National Bioethics Commissions. Professor Chalmers was Law Reform Commissioner in Tasmania from 1991 until 1997. He is currently a Board member of the Australian Institute of Family Studies. His major research interests include Health Law and Ethics, Trusts and Law Reform. He is also the author of seven books on PNG Law, Legal Studies, Trusts and Criminal Law; major government reports and contributor to legal treatises such as Laws of Australia, Halsbury's International Encyclopaedia on Medical Law and articles on medical ethics. Endnotes
1 For a list of nominations see Internet site at http://www.edge.org
30 GAEIB, The Ethical Aspects of Gene Therapy. Press Dossier Relative to the Opinion No.4 from the GAEIB (1994) at p. 21.
68 On the vagueness of this term see Harris, J. "Goodbye Dolly? The Ethics of Human Cloning" (1997) 23 Journal of Medical Ethics 353.
99 The NHMRC has issued guidelines for the use of genetic registers in medical research, which are currently being revised and updated. Additionally, the Anti-Cancer Council of Victoria has prepared advisory guidelines on genetic
testing for familial cancers.
112 Otlowski, M. "Genetic Information in the Workplace" (1999) 11 Today's Life Science no 2 20; Otlowski, M., "Insurers' Use of Genetic Information" (1999) 11 Today's Life Science no 1 16. L Gostin "Genetic
Discrimination: The Use of Genetically Based Diagnostic and Prognostic Tests by Employers and Insurers" (1991), 17 American Journal of Law and Medicine 109 at 115-116.
116 Recommendation No.R(92)3, Committee of Ministers of the Council of Europe 10 February 1993.
131 See Otlowski, M. et al Report No.1: Implications of the Human Genome Project for Australian Insurance Law and Practice at 53-54.
179 The regulatory regime for safety aspects of genetic manipulation in Australia is undergoing change at the present time. GMAC is in the process of becoming a statutory body, on the recommendation of the 1992 House of
Representatives Report: Genetic Manipulation: The Threat or the Glory. In what seems to be an inevitable consequence of attempts to adopt uniform legislation across Australia, the familiar state:commonwealth problems are now surfacing. The
Commonwealth draftsperson has drafted the legislation, and most of the states and territories are willing to adopt it, but others remain reluctant to do so.
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