Abstract and Keywords
This article looks at some of the chance discoveries and elegant ideas that were borne out through the availability of archived tissue samples. It then discusses some of the planned changes to the method and purpose of tissue storage and collection. The changes are in the form of new types of tissue bank, or biobank as they are conceived. These banks are part of a trend to move towards a preventative approach to public health rather than the current costly interventionist model. This approach is not without its problems and it is these that threaten the unfettered continuation of the tissue archive. The sophistication of new research tools can uncover information about individuals that may have a detrimental effect on their well-being in various ways. The article analyses these possibilities in the context of how health care might develop.
The possession, storage, and display of human tissue has until recently been a relatively non‐contentious issue. Henry Wellcome, founder of one of the largest pharmaceutical companies in the world and an inveterate collector of all things unusual, had in his display, shrunken heads, a tuft of hair from King George III, two fine tattoos complete with arm skin, and a piece of the philosopher Jeremy Bentham (Gosden et al. 2003). Peter the Great's collection of monstrosities and malformations in organisms keep the visitors flocking to the Kunstkammer in St Petersburg.
It is not just public collections that hold such an assortment of human body parts. There is currently a thriving market for shrunken heads, the most prized specimens being made by the Shuar people of Ecuador, so prized because of their method of carefully crushing the skulls before extracting bone fragments through the neck.
Museums everywhere hold the bodies of the long dead. In ancient Egypt the belief that the journey to the afterlife could only be made if the body was preserved required ancient embalmers to remove the internal organs and store them in jars. The pharaohs presumably consented to this, although their poor attendants, accompanying the dead and themselves condemned to a lingering death, may not have consented so willingly. Indeed, the boy pharaoh Tutankhamun is currently having his remaining DNA studied by scientists, and while he may have consented to the original burial and mummification, it is unlikely that he envisaged the eventual use to which his remains have been put. (See Holm 2001 for an excellent (p. 241) discussion of how we might think about an ethical framework for applying new genetic testing techniques to ancient tissue samples.)
From these ancient archives, medical anthropologists can tell us that much of the same afflictions that blight lives today were around in the past. In a similar vein, relics of the Christian saints and martyrs are to be found in cathedrals and churches across Europe; likewise it is claimed that the blood of Christ can be found on fragments of the true Cross. We are very familiar with the astonishing range of human tissue, bodies, bones, and bits that form much of our cultural, religious, and anthropological heritage, and are usually undisturbed by such collections.
Collections with the moral purpose of attempting to elucidate the nature of health and illness can be dated to the time of the Italian anatomists in the fourteenth century, when human tissue started to be systematically collected, stored, and studied. This long history of the research of human biological materials is the basis of much of our knowledge and understanding of disease causation and progression. ‘The human tissue archive’ is a name that has been given to the sum total of collections of human tissue worldwide, and these have been, with some justification, called ‘a research resource that is rich, unique, irreplaceable, and virtually indestructible’ (Korn 1998: 41). The practice originated in Renaissance Italy, when physicians first began systematically to perform autopsies, as a method of completing their case records. Pathology, as it is undertaken now, is generally agreed to have originated in mid‐nineteenth‐century Germany, where Professor Rudolph Virchnow began the systematic study of diseased tissue through the use of light microscopy. The availability of tissue archives has meant that when a connection is made between a disease and its possible causation, the requisite samples are at hand to test the theory. If such speculative research required the collecting of relevant tissue samples de novo, then many of the breakthroughs in understanding disease causation and prevention could not have occurred.
It is possible that this system, responsible for so much enlightenment in the history of medicine, may be under threat from two corners (Harris 2002). First, in an increasingly individualized society, proprietorial sensibilities are raised, encouraged by various scandals involving unauthorized organ and tissue retention. Secondly, with the rise of genetic medicine and the personally identifying nature of genetic information, citizens are likely to be more cautious regarding granting permission for the storage and undefined use of their tissue samples. We believe that any diminishing of tissue archiving or any threat to its continuation would be a retrograde and severely damaging trend.
In this chapter we will look at some of the chance discoveries and elegant ideas that were borne out through the availability of archived tissue samples. We then discuss some of the planned changes to the method and purpose of tissue storage and collection. The changes are in the form of new types of tissue bank, or biobank as they are conceived. These banks are part of a trend to move towards a preventative approach to public health rather than the current costly interventionist (p. 242) model. This approach is not without its problems and it is these that threaten the unfettered continuation of the tissue archive. The sophistication of new research tools can uncover information about individuals that may have a detrimental effect on their well‐being in various ways. We analyse these possibilities in the context of how health care might develop. Much of the disquiet centres on the fact that the information held has a genetic component. This leads us to consider the nature of genetic information. We discuss some social and cultural trends that have contributed to the idea of genetic ‘essentialism’ and ‘exceptionalism’. The former is the idea that persons are reducible to, or held captive by, their genetic components. Genetic exceptionalism is a corollary of this and insists that medical information with a genetic component is different in kind from other medical information and therefore requires different treatment. This ideology, if accepted, brings with it an assortment of individualistic concepts such as property rights in human biological materials and litigation avoidance strategies that will manifest themselves as consent hurdles. This is a clear threat to the centuries‐old practice of the altruistic donation of human tissue for the advancement of the common good. We close with a brief discussion of an appropriate approach to biobanking and our moral obligation to participate in research.
The Legacy of Tissue Archives
In the United States the National Bioethics Advisory Commission was moved to consider the rights and welfare of human research subjects and the management and use of genetic information. These deliberations also occurred in the United Kingdom, where the issues were considered by both the Human Genetics Commission and the Nuffield Council on Bioethics. The catalysts for such deliberations are new technologies for the study of human biological materials. The sophistication of the new research tools can uncover information about individuals, which may impact upon their privacy in various ways. The need to increase knowledge about human disease in order to develop better diagnostic and prevention tools needs to be balanced with appropriate protection from unwarranted harms for those who participate in medical research by donating their tissue. To give an indication of the scale of the human tissue archive, the archive in the United States alone is thought to run to more than 282 million samples in laboratories, tissue repositories, and health care institutions.
Tissue samples can be collected specifically for research purposes, as part of diagnostic procedures such as biopsies, appendectomies, or blood samples. The storage may be appropriate for secondary analysis, quality control, or research purpose. The astonishing worth of such enormous tissue archives is beautifully mapped out by David Korn in his commissioned paper for the NBAC (Korn 1998). (p. 243) This work is impressive in its scope and detail and we draw on it liberally in this first section.
Atherosclerotic cardiovascular disease has long been the leading cause of death in the United States. In fact figures supplied by the World Health Organization state that cardiovascular disease kills an estimated 17 million people a year worldwide through its effect on the functioning of the heart and blood vessels. Before the mid‐twentieth century it was generally believed to be a condition that accompanied middle through old age. In 1963, during the Korean War, military pathologists documenting chest wounds from artillery noticed something interesting. Approximately three out of every four young male American soldiers showed signs of atherosclerotic changes in their coronary arteries. Comparative studies on Korean prisoners of war and Japanese civilians showed a different pattern. The careful documenting and conclusions reached through tissue analysis led to a breakthrough in the understanding of the relationship between atherosclerotic lesions and cholesterol, diet, smoking, and blood pressure. Instead of being a late‐onset disease, in Western subjects it develops at a significantly early age and progresses in both severity and extent. As a result of these chance findings and the use of stored human tissue samples, changes in both surgical and medical therapies and in individuals' approach to their health, primarily through stopping smoking, and dietary modification, brought about a revolution in preventative medicine and public health.
The collection and storage of biological samples has proved invaluable for the tracking and identifying of virus breakouts. In the American south‐west during the early 1990s young people started dying from a pneumonia‐like illness. Analysis of tissue from the archives of the Centers for Disease Control and Prevention, which contain global samples of viruses, serum samples, and proteins, enabled initial tests of seriological screening. Testing turned up the possibility of a Hantavirus. Then autopsy tissue samples were tested with relevant Hantavirus monoclonal antibodies and genetic probes to identify the presence of Hantavirus and its source.
The above example relied on the combination of the tissue archives with the observations of ‘a suspicious clinician, an astute epidemiologist [and] observant Navajo elders’ (Korn 1998: 40). The suspicions of individuals are a common theme in Korn's report. The existence of comprehensive and available tissue archives speeded up the recognition of the carcinogenic influence of certain chemicals used in pesticides. For example, recognition that a vinyl chloride monomer (MVC) was a carcinogen causing liver tumours started with the concern of the factory physician employed where polyvinyl chloride was manufactured. The physician's suspicions were validated through the availability of pathologic archival materials collected from collections of the tumour type. Similarly, the tissue archives of underground uranium workers led to an understanding of the maximum allowable environmental radiation exposures for workers and to the encouragement of methods of cancer prevention.
Understanding of the aetiology and pathogenesis of brain and muscle diseases is critically dependent on archives of pathological samples from the central nervous system and skeletal muscle samples. Rodent models were long used for research into multiple sclerosis (MS). The use of these models led to some misleading conclusions. Only recently have studies of acute and chronic lesions in human brain samples been able to illuminate the sequence of events in the causation and progression of MS. A more sophisticated understanding of muscular dystrophy has occurred through advanced techniques and the study of human tissue. The histopathological features can now be separated into different gene mutations.
There are, then, countless examples of how tissue archives have benefited mankind. The availability of archived and accessible human tissue samples permits the rapid evaluation of disease. As Korn writes:
To try to initiate prospective studies de novo for each new promising candidate marker for each of the many varieties of human neoplasia would not only be extraordinarily costly in dollars and human effort, but would require study periods of many years, or even decades before definitive endpoints could be reached. In contrast, being able to apply such new technologies to archival materials, where clinical course, therapeutic response and outcome are already known, represents an incredible collapse of time and money, to say nothing of the human suffering required to evaluate the technologies, launch the necessary corroborative community trials, and possibly bring entirely new screening strategies into general application. (Korn 1998: 11–12)
This fact is not particularly well appreciated or understood, and it may be that this under‐awareness of the benefits attached to tissue banking may threaten its future.
Tissue Archiving Now: Biobanking
There are now changes affecting traditional tissue archiving. It has long been known, by patient groups at least, that medicines do not have set standards of efficacy for all patients. Currently, drugs for Alzheimer's disease work in fewer than one in three patients, whereas those for cancer are only effective in a quarter of patients. Only half the sufferers of migraine, osteoporosis, and arthritis can hope to be helped by prescription medication. The answer to this problem is thought to lie in pharmacogenetics, which is the application of human genetics to drug development. That not all people respond in the same manner to prescription drugs is due to individual genetic differences—different susceptibilities to the effect of the drug. It is speculated that those who do benefit from drugs could be identified by a genetic test which could then be used to eliminate those people who would not respond; they, in turn, might be able to benefit from other medication.
The inefficiency of many drugs and the ever‐increasing cost of maintaining the health of populations mean that a more progressive and innovative approach to (p. 245) public health is desirable. This would ideally be towards a model of prevention. It has become apparent that a smart thing to do would be to collate genetic and lifestyle information on a large scale in an attempt to discern how genetic susceptibility combines with environmental influences to impact health and longevity. National biobanks have been set up in countries with typically small gene pools such as Estonia, Iceland, and Tonga. This idea is not limited to small gene pools. The United Kingdom, with its multicultural population, has the benefit of a National Health Service and therefore the possibility of tracking the health records of individuals, and is undertaking a similar venture. To call it ‘biobanking’ is no misnomer; the plan is truly to build a bank, a resource, rather than to undertake certain particular studies. The new biobanking seeks to hold the anonymized human tissue and lifestyle information of individual volunteers as a resource for multiple users and researchers. These new‐style tissue banks, which have raised awareness about the importance of tissue archives, have also raised fears about the storage and use of such data. We shall briefly map out the expected potential of ventures such as national population biobanks; detail the possible downside or fears of such a project; and then consider how the balance of potential goods might be weighed against the concerns we have highlighted.
It is thought that the elusive nature of the interaction between nature and nurture might be elucidated by comprehensive analysis of individuals' lifestyle habits, environmental influences, and a sample of some type of biological material—blood or tissue yielding the complete genome. Most, and perhaps all, conditions detrimental to well‐being and our susceptibility to infectious diseases have some genetic component. Cancer, diabetes, asthma, and degenerative neurological diseases are prime candidates for investigation. Finding the genetic factors involved is naturally complicated by the myriad environmental influences. Biobanking projects are large‐scale and long‐term in order to be able to see correlations between lifestyle, susceptibility, and disease. The method is to collect information from volunteers on environmental and lifestyle factors and then link these to medical records and biological samples. Considerations will be of risk factors, diagnoses, what illnesses are suffered, any disabilities, which treatments were used, and which outcomes achieved. The samples will be stored in a central database so they can be analysed by scientists undertaking ethically approved research projects.
There are some fears about what types of research might be undertaken. Projects of such scale and novelty cannot anticipate the identities of all the research users or estimate their purposes. Traditionally, tissue samples removed for research and archiving have been done under sparing consent language. Indeed, guidelines in (p. 246) the United Kingdom developed by the Nuffield Council on Bioethics proposed that, providing there were no adverse consequences for the patient, consent to remove tissue for therapeutic reasons implied consent to any subsequent ethical use of the tissue (Nuffield Council on Bioethics 1995). Nevertheless, concerns have been raised that research may be undertaken to try to find genetic causes for behavioural characteristics such as violence or antisocial behaviour. There is validity in these concerns. Past claims for genes linked to schizophrenia, manic depression, homosexuality, and alcoholism have all eventually been withdrawn, but without the press attention that accompanied their ‘discovery’. It may be that all characteristics or illnesses have a genetic component, but the tendency to link, in the mind of the public at least, a single gene and an affliction or characteristic contributes to the idea of ‘genetic essentialism’. The notion supporting essentialism is that human beings are reducible to, or held captive by, their genetic components. It is partly the lingering nature of this discredited notion that threatens tissue archiving, and we discuss genetic essentialism in more detail later in the chapter.
What Is Genetic Information?
In order to understand how genetic information might be thought to threaten individual privacy, it may be helpful to know how genetic information works at the basic level. There are different types of genetic information and different ways of obtaining it. The genotype itself is simply the genetic constitution of an organism. A gene is actually a section of sequence of the chemical DNA that goes into making a particular protein. In other words, a gene is the protein coding sequence. Proteins are the class of chemicals that largely determine the structure and function of the self. At fertilization, egg and sperm, which hold a single set of twenty‐three chromosomes each, join to form the double set of forty‐six chromosomes which are then replicated as each new cell is formed. Chromosomes are largely made up of DNA but only a small percentage of this DNA forms our genes. The rest is termed non‐coding, or ‘junk’, DNA. The function of this junk DNA is unknown at this time. The genotype gives details, from the basic DNA or protein, of the precise variations inherited from both parents. The phenotype is how these variations are expressed, for example, height, eye colour, blood pressure. It is this pattern of inheritance of different phenotypes that also supplies the information about the families of individuals. Obtaining genetic information can be achieved by analysing either the DNA or proteins or blood.
Genetic information is sensitive in a number of ways. Not only can it reveal information about the individual concerned, it can also reveal information about their family. It may be able to say what that person's susceptibility to disease is—and there is lively and robust debate in the bioethics literature about whether one has a (p. 247) right not to know information about one's future health (Takala 1999, 2001; Harris and Keywood 2001; Bennett 2001). Personal genetic information is thought to differ from other types of information in several respects. Most important is considered to be its uniquely identifying nature, which can confirm, deny, or reveal family relationships. Also, genetic information can be taken from the smallest amount of biological material. This capacity means that genetic material can be secured without the consent of the person. It is this potential of genetic testing to provide information about the individual that is of interest to others—family, insurers, or employers.
The question that needs to be considered is: Does the fact that genetic information can affect others and that it can potentially be used to the detriment of the person mean that it is different in kind from regular medical information? What needs to be determined is whether the difference involved requires a change to the way human tissue is thought of and managed. To discover what might be different about genetic information as opposed to regular tissue we can look at some of the issues it has raised.
Trends Involving Genetics
It is not merely the nature of genetics that poses a threat to tissue storage and collection. There have been other social and cultural changes that influence how individuals perceive both their own biological materials and even their obligations to others in the form of a shared interest in scientific advance. We live in a climate where ownership is the fundamental framework for protecting interests. That this is stretched to human biological materials is probably somewhat natural. This is quite obviously seen in the idea and practice of patenting genes. The complexities of the necessary protection required by biotech and pharmaceutical companies who invest heavily in research and development are often subsumed to the notion that the importance of human tissue or the development of cell lines lie in their inherent value. The perceived importance of genetics and biology and the difference inherent therein are given a further boost by legislation supporting such perceived importance. For example, at the time of writing, the UK government has just announced a legislative change that will deny anonymity to sperm and egg donors. This is based on the primacy of the rights of individuals to know their genetic heritage. The ruling seeks to parallel the right of adopted children to this knowledge, despite the fact that children born naturally have no ‘right’ to know their genetic heritage.
Should people have knowledge of their genetic origins? We know that there are significant non‐paternity rates in the United Kingdom and other countries. Non‐paternity refers to births where the children of the family are not in fact genetically (p. 248) related to the person they believe to be their father and who usually believes he is their genetic father. Non‐paternity rates are quoted with wildly differing values (from less than 1 per cent to more than 30 per cent). A modest, and probably reliable, figure is 2 per cent. However, even at a modest rate of 2 per cent, non‐paternity rates in the United Kingdom account for over 12,000 births registered annually to men who are not in fact the genetic father. Thus, if there is such a thing as a ‘need for children to know their genetic background and true identity’, then on the grounds of numbers alone we should start with normal families. This might imply an obligation for paternity testing in all families.
Also, in a climate that stresses the importance of determination over one's biological materials, the issue of broad consent to tissue collection and archiving is problematic. For example, it may be that many people would be happy to give their tissue samples for most research activities, but not for any research into human intelligence. But if nature and nurture cannot be separated, if they are inextricably combined and our knowledge of their relationship is in its infancy, then it may be that perfectly respectable, ethical, and innovative research into the complex nature of intelligence is legitimate. It is not possible or desirable, with all our prejudices and ill‐informed suppositions, to attempt to exclude or determine in advance which research can proceed.
In his report on the contribution of the human archive, David Korn relates the example of Kaposi's sarcoma (KS), a strange spindle cell and vascular tumour now associated with the HIV virus. Previously endemic in parts of Africa, it had not been associated with any specific predisposition, including predisposing infectious diseases. However, KS was identified as an early defining feature among HIV patients. Researchers at Columbia University, led by Dr Yuan Chang, used analysis of archival tissue from HIV patients to discover a unique human herpes virus, HHV8, in KS cells. The discovery of this association led to many further studies on the molecular and cellular mechanisms by which HHV8 drives the precursor cells of the KS lesions into neoplastic proliferation. For Korn this research ‘demonstrates the remarkable utility of large human tissue archives, well characterized pathologically and clinically, in supporting novel kinds or research, not predictable at the time the tissue samples were originally collected, but of significant public benefit’ (Korn 1998: 38).
These cultural and social changes emphasizing individual rights and the notion that genetic information is different in kind have fuelled the debate about privacy and discrimination. It is supposed by some that the interests of individuals regarding their tissue samples would be better served by some form of property rights over their tissue (Erin 1994; also, for a discussion of the arguments surrounding this issue, see Gold 1988). Property rights are an attractive framework in that they encompass several rights. They include the right of use, transfer, possession, management, and usually the right to receive any capital value and income generated by such property. Such a framework would permit individuals to sell their genetic material, (p. 249) and if the material was found to be of particular value then it could be sold to the highest bidder. This individualistic approach could see the replacement of altruistic donation by a system whereby researchers bid for access to tissues. This would severely impact academic researchers and increase the research and development costs of the private sector.
The availability of genetic information has potentially serious adverse emotional, social, and financial consequences. It may threaten the ability of those, already unlucky in the genetic lottery, to access decent insurance coverage or employment contracts. It is these threats that support the growing lobby of those who seek to make genetic information a different class of medical information. This trend is known as ‘genetic exceptionalism’, and we shall discuss the merits, implications, and validity of such a concept in the next section.
Genetic exceptionalism is the idea that genetic information is so importantly different that it deserves classification as exceptional. In her informative paper on the subject Lainie Friedman Ross (2001) tracks the history and content of the debate surrounding genetic exceptionalism from its origins in the early 1990s. It arose out of the early stages of mapping the human genome, when tests for dispositions were in development despite there being no possible interventions. The term ‘exceptionalism’ in relation to medical matters came into being as a result of HIV. New practices, such as pre‐ and post‐HIV‐test counselling, the development of new consent forms, and strict requirements of confidentiality, were brought into being. The rationale was that testing would prevent the spread of the disease and those at risk might be reluctant to be tested if complete confidentiality was not assured. Confidentiality was thought to be the only way to avoid the stigmatization associated with the illness. Many of the same issues, fear of discrimination and stigmatization, apply to genetics, hence genetic exceptionalism.
Ross maps out the proposed justifications for genetic exceptionalism and considers their merits. The rationale of commentators who insist that genetic information is sui generis and thus deserving a separate and stringent legislative framework is that
• genetic information is immutable;
• it can be detrimental to the individual;
• it poses implications for familial relationships.
The immutability of genetic information is actually a rather dated concept. It was supposed that genetic testing only had to be done once in order for one's (p. 250) genetic status to be known for ever. But, as is often the case, the more that becomes known about genetics, the more we realize that this is less likely to be the case. The prophetic potential of genetic information is not cast in stone. Mutations occur, and little is known about the variations within gene combinations. Ross (2001: 141) explains that this means that ‘what geneticists share with their patients about their genetic make‐up cannot be considered immutable’. Even if all the alleles are known, this would still leave the question of why the gene translates into illness. There are very few single gene disorders and myriad environmental influences. Genetic testing is not the accurate forecaster that reductionist models of genetic medicine or imprecise science journalism have implied.
So how might the exceptionalists fare with the discrimination argument, which, at least according to measures taken to assess public sensibilities, has the most force? Most concerns centre on the possibility of an individual's genetic information being somehow accessible by virtue of the fact that the information is stored. We will leave aside the obvious point that one does not imply the other and the relative ease with which this can be made unlikely by appropriate access regulations, the anonymization and encryption of data, and strict penalties for abuse. It is inconceivable that employers or the insurance industry could have access without consent to an individual's medical information. Different rules may well apply in law enforcement, but that's a debate for another time. It may be that employers wish to test employees for susceptibility, particularly if they will be exposed to known carcinogens. As nice as it would be if no one had to be exposed to carcinogens, it may be a prudent and preventative measure for both employees and companies alike. As for insurance companies, it may be that, in the paradigm shift from interventionist medicine to preventative medicine, different models of insurance need to be introduced. Again, possible alternatives to standard models of insurance coverage are being debated in the bioethics literature (Burley 1999; also see Knoppers 1999). After all, why should it be acceptable for those who have a good indication of their likely future health condition to be able to use that as an unfair advantage against their insurers? This aside, the main reason that the threat of discrimination, victimization, and stigmatization cannot be considered justification for genetic information to be treated differently is that these sorry conditions exist wherever there is difference. Age, gender, ethnicity, religion, social class are all characteristics by which people can be discriminated against. With the proper safeguards in place, genetic information should be considerably less likely to be used as a tool for discrimination than obvious characteristics such as gender.
Finally, the implications for families and kin. The justification for exceptionalism here is that genetic knowledge is likely to reveal familial relationships and risk implications. Well, that is true, and perhaps one of the reasons that it is difficult for us to accept the responsibility for the kin and risk elements of genetic information, and thus to treat it differently, is that the sacred cow of individual autonomy results in a tendency to think one's own interests are always paramount when (p. 251) it comes to medical matters. But medicine is not just about individual interests, as our first section on the value of tissue archiving testifies. Public health policy, particularly in countries where the state foots the bill, needs to have strategies not solely based on individual need. Ross (2001) points out that transplantation and public health issues such as vaccinating populations are testament to health care beyond individual patients. Instead of legislative frameworks that take individuals and their desires as a prime good, Ross (2001: 141) acknowledges that there is a need for ‘an ethic that can accommodate patients as members of families and communities’. That aside, the argument against exceptionalism is that implications for families are not limited to genetic information. Sexually transmitted diseases and infectious diseases require the disclosure of what may be very uncomfortable information to family members and spouses. How to assess risk within families, and issues of how and whom to tell, need to be approached through the appropriate genetic counselling mechanisms and the application of judgement and compassion. Issues of paternity have been problematic probably as long as families have existed.
Further Threats to Tissue Archives
It is not just the genetic factor that has changed our conception of human tissue. Those seeking a property framework have had their case strengthened by two very damaging scandals in the United Kingdom. In both cases, public inquiries were held into allegations that the organs and tissues of children were taken and stored without proper consent. Lawsuits abound. Ironically, although the scandals caused a dip in tissue donations, this was compensated by increased public awareness of the importance and need for tissue sample contributions (Dickson 2002). But such stories serve to confirm a link between human tissue and possession, and thus ownership. Furthermore, the emotive nature of the scandal serves to elevate the importance of tissue, in itself. For example, many families exhumed the bodies of their children, sometimes more than once, to bury the retrieved body and tissue parts. This had a direct impact on the availability of tissue and a perhaps more damaging secondary effect. The problem lies in the now over‐cautious approach taken by medical intermediaries. The prominence of the principle of valid informed consent is taken as such a primary good that intermediaries such as pathologists and ethical review boards insist that ‘Removal of a piece of tissue during surgery requires that informed consent be obtained from the patient, that an independent research ethics committee approve the supply of tissue to researchers and companies, and that patient confidentiality be maintained’ (Dickson 2002: 543). It has resulted in risk‐averse procedures within hospitals and other traditional centres of tissue collecting, and the vitiating of liability means that the consent hurdles are much greater.
We commented earlier that the UK's Nuffield Council on Bioethics, in its report on the ethical and legal issues surrounding human tissue, argued that, providing there were no adverse consequences for the patient, consent to remove a tissue for therapeutic reasons implied consent to any subsequent ethical use of the tissue. The rise of individual autonomy as the prime moral good in bioethics, combined with decreasing expectations of social responsibility and the organ retention scandals, mean that this presumption is no longer the case (Furness 2003). The position autonomy demands now is that the patient should have control over the use to which their excised tissue or blood is put. But it has been pointed out that patients who have given informed consent to their tissue being used for research or teaching should not have these wishes overridden by research ethics committees (Furness 2003).
There is confusion caused by the tension between patient as arbiter of their tissue samples and the need for good access and availability of tissue samples. Much of the tension is between researchers and the research ethics committees that are required to approve their proposals. There are guidelines and mechanisms in place to permit research where consent is difficult to obtain—for example, in cases where the patients are unable to be contacted (Medical Research Council 2001). But the primacy of patient autonomy perceived by many research ethics committees has resulted in the ignoring of such mechanisms and guidelines. This confusion extends to the researchers themselves, with many imposing restrictions on their own work by ‘an unnecessary commitment to exclude samples from patients who had died or were lost to follow up’ (Furness 2003: 39).
That research in the United Kingdom has been damaged in the wake of organ retention scandals is not in doubt. It created a substantial reduction in the numbers of post mortems undertaken with the consent of relatives. The effect of this is an increasing difficulty in obtaining tissue samples (Underwood 2001). The decrease has been unnecessary as many of the parents of children who died have spoken of their willingness to donate organs for use in research if only they had been asked.
The Nature of Genetic Information
These ideological positions undercut the social purpose and requirement of human tissue archiving. The very nature of genetic information is a denial of our individuality and separateness. In fact, it is about how very similar we are and in itself displays the connections and responsibilities we hold to others. All threats to privacy and non‐discrimination can be secured against by the appropriate legislation. In fact when polls have been taken determining the public reaction to the holding, by anyone, of genetic information, there are very strong Rawlsian ‘veil of ignorance’ responses made. These intuitions of what would be just—i.e. no discrimination (p. 253) on top of being unlucky in the genetic lottery—are fairly unanimous. They should be used to make the foundation of appropriate legislative conditions under which altruism can flourish without penalty. It should also be borne in mind that demands for individual property rights come from persons who, like all of us, have been advantaged by past medical discoveries. Why they should think it appropriate that such benefits should not be extended to future generations is indicative of the mean‐spirited nature of much individualistic thought.
There should be no genetic exceptionalism—it is medical information like any other—and can be accommodated by appropriate moral principles and concepts. The very same familial consequences cause alarm should also remind us of our deep connection and therefore our responsibilities to each other. Personal genetic information, rather than being something detrimental or alarming, is actually beneficial for all of us. The sharing of genetic information within families can help people avoid serious illness. To be informed of one's susceptibility to a genetic disorder may permit a therapeutic intervention or allow the individual to make lifestyle changes in order to lessen the possibility of contracting a disease or disorder. But, the main importance of research in genetics is the resulting therapeutic advances gained from such research. As this benefits all individuals, we perceive there to be a corresponding responsibility by individuals to continue with altruistic participation.
When this question was raised most recently in the United Kingdom, it fell to the Human Genetics Commission to consider the implications of genetic information. Their consultation document ‘Inside Information’ canvassed public attitudes to personal genetic information and how it should be treated (Human Genetics Commission 2002). They concluded that there was strong public support for research into human genetics and the benefits it is expected to bring. It was widely held that public, rather than private, ownership of genetic knowledge is preferable, and the majority of people believe in the central role of consent for the obtaining and storing of genetic information. There was considerable opposition to the use of genetic information by insurance companies or employers. The Commission concluded that the public do not wish to see people disadvantaged by their genetic characteristics.
We believe that genetic knowledge and the nature of genetic information creates a moral relationship between people. Concepts and moral principles have been proposed to give guidance to all parties in regard to genetics. The Human Genetics Commission has proposed the concepts of genetic solidarity and altruism that promote the common good. It states that
(p. 254) As virtually all medical facts have a genetic component, genetic information should have the same robust protections that exist for all medical information.
We all share the same basic human genome, although there are individual variations which distinguish us from other people. Most of our genetic characteristics will be present in others. This sharing of our genetic constitution not only gives rise to opportunities to help others but also highlights our common interest in the fruits of medically‐based genetic research. Human Genetics Commission 2002: 2.11)
Finally, it may be that the fears surrounding the new type of biobanking is actually less of a threat to individual privacy. The goal of large‐scale tissue banks is to predict the risk of disease in populations and subgroups rather than individuals.
How to Proceed
The need to continue tissue archiving is paramount. Korn writes that advances in therapeutics, diagnostics, and understanding do not obviate the need for the continuation of tissue archiving and research. The most striking example of the need for this is to be seen in respect to the central nervous system and neuromuscular disorders. This is for several reasons. There are still no tissue culture or animal models accurate enough to supply parallels to the human brain. Also the most effective way of trying to determine the aetiology and pathogenesis of the brain is still based on the ‘meticulous investigation of human tissue samples in correlation with equally meticulous clinical evaluation of patients over relatively long periods of time’ (Korn 1998: 17). As with the chance discoveries we noted at the start of this chapter, the application of new technologies or invention to the study of neurological and central nervous system disorders is completely dependent on the existing tissue archives to make the necessary experiments.
Good concepts and moral principles are available to us to take us into a new era of preventative medicine. Furthermore, personal genetic information may or may not be significant for the individuals involved, therefore a ‘one size fits all approach’, such as property rights in tissue, is inappropriate. There is no reason for genetic information, in itself, to be treated as being particularly sensitive. Historically and culturally, it is understood that medical information is confidential. Medical information with a genetic component is not different. In both cases the information has the potential to disclose a patient's vulnerability.
Appropriate principles can be used to enlighten the frameworks for biobanking and the utilization of genetic information. Principles of respect for persons affirm the ‘equal value, dignity and moral rights of each individual. Each individual is entitled to lead a life in which genetic characteristics will not be the basis of unjust discrimination or unfair or inhuman treatment’ (Human Genetics Commission 2002: 2.20). This reflects the instincts and intuitions received from polls of public opinion.
The principles identified as appropriate for guiding legislative and other frameworks are still concerned with safeguarding individuals—as they should be. Other secondary principles advocated by the Human Genetics Commission include the principle of privacy, the principle of consent, the principle of confidentiality, and the (p. 255) principle of non‐discrimination. Instead of a persistent debate about the individual versus society, the nature of genetics and medical progress require individuals to be seen, and to see themselves, as members of a society with shared interests in the improvement of health.
When we consider the history of tissue archiving and appreciate the great gains it has brought individuals and society, we should appreciate that removing tissue samples for research and archive was done so under sparing consent language. We cannot foresee what research ideas will spring from the elegant ideas, inspiration, lateral thinking, or observations of medical researchers. Tissue archiving must remain a ‘rich, unique, irreplaceable, and virtually indestructible’ resource (Korn 1998: 41). Our fears of threats to the privacy and fair treatment of individuals must be tempered by our experience of the great good of medical research, which seeks to improve the lives of mankind as a whole. Medical information that is genetic in nature is neither necessarily nor fundamentally different, in itself. Vigilance and appropriate legislation can safeguard individuals. The thorny problems that arise from the obligations engendered by familial connections are an addition to the bioethical canon of problems to be dealt with through robust debate.
The Obligation to Undertake Research
Finally, it must be emphasized that we, all humankind and all societies, have the strongest of obligations to pursue promising therapeutic research and that to fail to pursue research that might save these and many other lives would be both tragic and truly immoral. Two separate but complementary lines of argument lead to this conclusion. First, it follows from one of the most powerful obligations that we have, the obligation not to harm others. Where our actions will probably prevent serious harm, then if we reasonably can (given the balance of risk and burden to ourselves and benefit to others), we clearly should act because to fail to do so is to accept responsibility for the harm that will then occur (Harris 1980). This is the strong side of a somewhat weaker but still powerful duty of beneficence, our basic moral obligation to help other people. Most, if not all, diseases create unmet needs in those who are affected, and because medical research is often a necessary component of relieving those needs, furthering medical research becomes a moral obligation.
We all benefit from living in a society, and indeed in a world, in which serious scientific research is carried out and which utilizes the benefits of past research. It (p. 256) is both of benefit to patients and research subjects and in their interests to be in a society that pursues and actively accepts the benefits of research and where research and its fruits are given a high priority. We all also benefit from the knowledge that research is ongoing into diseases or conditions from which we do not currently suffer but to which we may succumb. It makes us feel more secure and gives us hope for the future, for ourselves and our descendants, and others for whom we care. If this is right, then we all have a strong general interest that there be research, and in all well‐founded research. The human tissue archive in the past, and biobanking in the future, together constitute one of the most powerful research tools available to humankind. To turn our backs on the research that might save so many lives is literally to acquiesce to participation in the sacrifice of those lives.
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