pp. 157-160 in Intractable Neurological Disorders, Human Genome Research and Society. Proceedings of the Third International Bioethics Seminar in Fukui, 19-21 November, 1993.

Editors: Norio Fujiki, M.D. & Darryl R.J. Macer, Ph.D.


Copyright 1994, Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with Eubios Ethics Institute.

Predictive testing in genetics and psychiatry: ethical issues in the use of advance directives

Daniel Wikler
Professor, Program in Medical Ethics, University of Wisconsin Medical School, USA


The genetic basis for psychiatric and behavioural disorders varies from the certain (Huntington's Disease) to the increasingly well-established (some cases of Alzheimer's Disease) to the problematic (schizophrenia). As knowledge accumulates and technique advances, the possibility of prediction of these conditions will force consideration of some particularly vexing ethical issues. As affected individuals contemplate the management of their lives, they may seek means of maintaining control once illness strikes. This paper considers the use of "advance directives", instructions regarding medical care and other important personal decisions, before the onset of crippling mental disorder. The use of these instruments is barely contemplated at present for psychiatric and neurological conditions predicted on the basis of genetic data, and debate over the ethical issues they present is nearly nonexistent. In the present paper I wish not to argue for or against their use but to point out the ethical issues which will have to be addressed if the idea begins to acquire currency.

1. Current Interest in Advance Directives

Current interest in advance directives stems directly from the enhanced ability of modern medicine to prolong life in very sick patients. Patients who recover, and those who value life even when it is of very low quality, owe their thanks to these advances. Increasingly, however, older patients have come to fear that their last days will be spent as prisoners of the intensive care unit, subjected to "heroic", invasive measures which offer little hope of cure while severely reducing their dignity and the control which they can exercise over their personal affairs.

For many patients, family members can intervene with physicians and clinics to insist on decisions which conform to the decisions which the patient would make if he or she were competent to do so. But family are not always present, not always trusted, and not always united. In the past decade, a great deal of attention has been given to the advance directive, an instrument permitting the individual to exercise some control over events even after becoming incompetent to decide.

There are two principle varieties of living wills: the "living will", which sets down the patient's decisions regarding clinical decisions; and the "durable power of attorney", which authorizes a person of the patient's choosing to make decisions on his or her behalf. There are many variations and combinations (as when the patient directs a proxy to make certain decisions). For the most part these directives are meant to apply at the end of life, though not all laws require that the patient be diagnosed as having a terminal disease.

The primary function of advance directives is to enhance the patient's power of self-determination. Patients retain some control where once they were entirely powerless. A related benefit is that physicians and the courts are relived of some of the responsibility for discontinuing life support, an act which if initiated by a doctor acting on his or her own might be much more controversial.

Once a curiosity, advance directives are now widely used in the United States. Articles in the lay press counsel patients on their use, and attorneys assist clients in drawing up living wills along with the ordinary wills. A recent national law, the Patient Self-Determination Act, requires every hospital receiving federal funds to inform all patients on the applicable laws regarding advance directives.

2. Advance Directives in Psychiatry and Neurology

Though advance directives have been considered almost exclusively in death-and-dying decisions, their potential application is broader. Considered generically, they permit the individual to exercise his or her will when this is precluded by dint of mental incapacity, just as an ordinary will permits a person's decisions to be effective when death prevents the person from seeing to his or her own affairs. Psychiatric and neurological disorders present a similar mental incapacity, and it is possible that advance directives could be used in connection with these conditions as well.

In 1979, a research group of psychiatrists and a philosopher (myself) published a paper proposing that patients with recurring psychotic episodes be permitted to waive some of their legal rights to refuse treatment. We had in mind patients suffering from recurring mania. Several patients in the care of my medical colleagues had complained that by the time their psychotic episodes had reached the point at which involuntary sedation and treatment was legally permitted, they had made a shambles of their finances, careers, and personal relationships. They implored their psychiatrists to sedate them early into the onset of their next manic episodes; but both doctor and patient were bound by the law to permit the patient to refuse all treatment until the patient posed actual danger to self or others. Our proposal responded to the plight of these patients. The waiver we urged would permit involuntary treatment under carefully defined circumstances and judicial review. The waiver would be used only with respect to psychiatric conditions whose course was fairly predictable and whose acute episodes were punctuated with periods of more normal mentation, during which the waiver be executed by the patient.

Our proposed waiver was similar to advance directives now used at the end of life, but there were differences as well. The obvious difference was that there was no requirement that the patient be terminally ill. Another was that the expected primary use of the instrument was to permit therapy rather than to refuse it. Of greater significance for the present discussion is that the waiver we recommended would come into effect in the grey zone between normality and full-blown psychosis. The end-of-life living will is meant to apply when the patient is incompetent. Legal remedies already exist for incompetent mental patients; our proposal in effect extended the occasion for intervention to a broader class of mental states.

3. Advance Directives and Inherited Psychiatric Disorders: Advantages

The proposal for advance directives governing the care of psychiatric patients applies evenhandedly between inherited and other psychiatric disorders. They would permit the patient, while well, to specify the kind of medical treatment and other personal decisions which the patient would want when judgment becomes affected; and the directive might apply to the period beginning with relatively early signs of a progressive disorder. Whereas our original proposal was intended to have a narrow application (primarily involuntary sedation), an advance directive for a condition such as Alzheimer's Disease might have a much broader scope. It could spell out the patient's desires on many facets of daily decision-making, and indeed might also include the features of the conventional living will.

Huntington's disease strikes in early middle age, Alzheimer's usually late in life; in these and other cases the individual may have a substantial period of relative mental normality in which to contemplate his or her fate and to formulate desires concerning medical treatment and other personal matters once illness strikes. To the extent that those psychiatric and neurological conditions known to have a genetic basis may be predictable to a greater extent than conditions with other etiologies, a distinctive set of ethical issues must be addressed.

The relative advantage in using advance directives for psychiatric illnesses predicted well in advance is that the patient's "authentic" desires concerning treatment can be credibly ascertained. One of the principal objections to the use of these directives with patients suffering from manic-depressive disorder is that the instrument's use is predicated on there being a period between acute episodes in which the patient is in some sense truly him- or herself. Directives issued during this period are to that extent authoritative and are permitted to override later treatment refusals, even when these are loud and strenuous. In effect, the later refusal is to be understood as a symptom of the disease, whereas the waiver issued during the "normal" period is taken as the patent's true will. This presumption does not fit all patients well; there may not be any one particular set of desires which constitutes the patient's "real" self. In contrast, in the case of, say, Alzheimer's Disease predicted on genetic grounds for a young man, the man's wishes are as "authentic" as anyone's, assuming that no sign of the disease is yet present.

A second advantage in the case of the inherited mental disorder is that the patient's directive is less likely to be challenged as coerced. Patients with acute psychotic episodes who petition for the right to sign the waiver are already in a doctor-patient relationship, and civil libertarians challenged the proposal to permit these waivers on the grounds that some patients might be pressured into signing. Healthy young people who are told by geneticists that they are at risk of developing Alzheimer's or Huntington's Disease, on the other hand, are more autonomous, and any directives they might issue have to that extent greater moral authority.

4. Advance Directives and Inherited Psychiatric Disorders: Disadvantages

Anyone contemplating the use of advance directives for psychiatric and neurological conditions predicted on the basis of genetic data must address ethical objections raised to date for the use of the directives for mental conditions generally, and also some particular to the case of genetic conditions.

The principal objection to the proposal for mental health advance directives has been that they are at odds with fundamental civil liberties. Some formulations of the proposal require a change in the law of the United States; and other countries which protects the right even of patients diagnosed as having psychiatric disorders to make medical and other personal decisions as they see fit, even if eccentric or self-defeating, unless certain strictly-defined conditions (such as dangerousness) are met, so long as the patients are legally competent. The proposal does not suggest any change in the legal definition of competence; it permits patients to waive the right to refuse while legally competent. Opponents of the proposal view these rights as non-waivable, just as rights against enslavement and other fundamental liberties cannot be waived. Objections have also been raised about the danger of vagueness in specifying the conditions under which the directive comes into force. All of these points apply to advance directives for inherited, predicted mental disorders, at least those which are to take effect before the patient becomes legally incompetent.

This use of advance directives might also be challenged on the same grounds as have advance directives for end-of-life decision-making. Advance directives are theoretically appealing, but some studies of their use in actual clinical practice suggest that the directives play little role in actual patient care. Thus far, relatively few patients have executed them, and even when they do their existence may be unknown to the attending physician and to the family. When they are known, they are likely to be ignored if the physician or the family objects to their contents; indeed, some state laws explicitly release the physician in case of differences of conscience.

Other ethical objections can be raised in the case of prediction of mental disorder on genetic grounds. If a genetic basis for schizophrenia is demonstrated and predictions can be made, the individuals in question may exhibit severe symptoms of the disease before maturity. The point of these directives is to record the preferences of the patient before disease strikes, but in this case the individual would be too young to have settled preferences which should govern treatment of the individual throughout adulthood. Indeed, the exercise of executing an advance directive might be emotionally trying for a very young person. McGuffin et al, in their paper on the ethics of prediction of Alzheimer's Disease, state that "it is a dubious practice to perform predictive testing of this type on any child". They describe a case in which a young man complaining of inability to concentrate who had been (erroneously) predicted to be at 50% risk of developing Alzheimer's his symptoms may have been caused by his reaction to the prediction.

For some inherited psychiatric propensities, the clinician may suspect that the patient seeking counseling already exhibits signs of the disease. Fearing adverse results, Morris et al. refuse even to test "individuals with suspicious or definite clinical abnormalities". Since the impetus for executing an advance directive for genetically-based psychiatric or neurological disorders might in fact be the first onset of symptoms, this point is potentially significant. The use of these directives might have to be restricted to predictions made on the basis of requests for counseling stemming from familial patterns or adventitious discovery of the relevant genes.

On the other hand, if the individual executing the advance directive does so many years, even decades, before the onset of the disease, the validity of the directive is open to question on that ground. Preferences change over time with changing circumstances and personal maturation and development; unless the directive is periodically updated, the directive may impose upon the middle-aged or elderly patient a set of preferences which the patient had as a young person. These may bear little resemblances to the choices the patient would make at that age were the patient in full possession of his or her mental faculties.

If we do take the much younger individual's preferences as binding on the care of the older patient, we must consider a quite profound ethical question: ought the younger person who executed the directive have the power to make these decisions? Of necessity, and quite apart from maturation, one's perspective changes with time. An individual contemplating his or her life as a whole may wish that it not end with several years of reduced functioning, as in Alzheimer's and other diseases. But the patient once afflicted might have few preferences about the overall pattern of that life; if existence is not unpleasant, each day might be worth living from this narrower perspective. Providing young people with predictions of later psychiatric and neurological disorders, and with the power to execute advance directives to govern care during those years, automatically gives priority to the longer view. Perhaps that priority is defensible, but the clinician at the time of illness may find it difficult to imagine withdrawal of treatment for a patient for whom continued life, considered in a day-by-day perspective, is a benefit.

Conclusion

People who anticipate a period of reduced mental functioning may be attracted to advance directives as an instrument for maintaining personal control over their care and for ensuring that the preferences they have before the onset of illness are given priority over preferences which may be shaped in part by the illness. The increasing possibility of prediction of future mental disorder on the basis of genetic information presents a possible occasion for these directives, perhaps to be executed by individuals long before illness strikes. This use of advance directives faces objections raised to the use of advance directives generally, to their use in mental disorders, and specifically to their use in mental disorders predicted on the basis of genetic data. Nothing in this paper rules out the possibility that with appropriate legal safeguards and clinical sensitivity these advance directives might provide more benefit than risk, but they will have to be carefully thought out before being put into use.


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