Part I
The Concept of Disease
1
The Concept of Disease in Clinical Medicine
Abstract: This chapter asks the question: âwhat, for the clinician, is disease?â Of all the tasks philosophers undertake, I consider the conceptual analysis of disease to be of particular importance â and for obvious reasons. For one, oneâs disease status can have significant consequences. In the following sections I outline three prominent conceptions of disease, looking for that best suited to clinical medicine: those proposed by Rachel Cooper (2002), Peter Schwartz (2007), and Jerome Wakefield (1992, 1999). I dismiss Cooperâs view based on clear cut counterexamples, but show that significant parts of both Wakefield and Schwartzâs views are compelling. I conclude with a fourth proposal (which draws on both Wakefield and Schwartz), providing an etiological theory of disease in clinical medicine.
Keywords: disease as harmful function; harmful dysfunction; Jerome Wakefield; natural function; Peter Schwartz; the line-drawing problem; What is disease?
Smart, Benjamin. Concepts and Causes in the Philosophy of Disease. Basingstoke: Palgrave Macmillan, 2016. DOI: 10.1057/9781137552921.0007.
Introduction
This chapter asks the question: âwhat, for the clinician, is disease?â Of all the tasks philosophers undertake, I consider the conceptual analysis of disease to be of particular importance â and for obvious reasons. To mention just a few: concepts of health, illness, and disease (specifically mental illness) affect whether or not one is legally responsible for oneâs actions; a concept of disease is necessary to demarcate the diseased from the healthy (which might distinguish those eligible for medical treatment, from those not1); not only must medical care be paid for, but oneâs state of health affects oneâs right to disability allowance, free housing, and so on â so concepts of health and disease have a significant economic effect; and since the decisions made by those in the medical profession affect legal responsibility, eligibility for medical care, eligibility for income support, and the distribution of resources (both locally and internationally), decisions concerning health and disease have enormous ethical implications.
In the following sections I outline three prominent conceptions of disease, looking for that best suited to clinical medicine: those proposed by Rachel Cooper (2002), Peter Schwartz (2007), and Jerome Wakefield (1992, 1999). I dismiss Cooperâs view on the basis of clear cut counterexamples, but show that significant parts of both Wakefield and Schwartzâs views are compelling. I conclude with a fourth proposal (which draws on both Wakefield and Schwartz), providing an etiological theory of disease in clinical medicine, that is not, unlike Wakefieldâs etiological account, subject to the line-drawing problem.
The maximally value-laden conception â Rachel Cooper on disease
Cooper provides a tripartite account of disease; that is, she proposes that the concept of disease has three individually necessary, and together sufficient conditions.
1Disease is a bad thing to have;
2We must consider the afflicted person to have been unlucky; and
3The condition can potentially be medically treated. (see Cooper, 2002, 271)
The first criterion states that in order for a patient to have a disease, the condition must be bad for that patient (as opposed to society at large). There are many examples of one and the same condition being good for one individual, and bad for another. Having an unusually fast metabolism, for example, is harmful to the bodybuilder (who wishes to increase muscle mass), but beneficial to the model (who can, as a result, eat a balanced diet, while maintaining a low body mass index (BMI)).2 Cooperâs claim thus implies the somewhat counterintuitive conclusion that the same condition can be a disease for one person, and not for another. That said, her example of âsterilityâ goes some way to justify this â some choose to have vasectomies, yet others, who desperately want children, are sterile for reasons beyond their control. Only the latter group are diseased.
The second criterion states that an individual can be diseased only if they are âunlucky as judged by the uninformed layman, that is, roughly, worse off than the majority of humans of the same sex and ageâ (2002, 276). She claims that this criterion helps us understand why one can attribute states of health to those with disabilities, and to those with genetic conditions such as Down syndrome. Down syndrome patients, she argues, are healthy âin a certain sense,â just in case they do not have âsome otherâ infection or injury (276).
The third criterion, that the condition must be potentially medically treatable, separates diseases from other harmful and unfortunate states; for example, being robbed at gunpoint, losing oneâs job, and so on.
Objections to Cooperâs model
Although the three conditions Cooper proposes do seem to apply to most diseases, the theory is subject to a variety of counterexamples. First, it is questionable whether all three necessary conditions are, in fact, necessary. I refer in particular to the second criterion, in which she states that one must be âworse off than the majority of humans of the same sex and ageâ in order to be diseased. Cooper suggests that â90-year-olds who canât walk as far as when they were younger are not diseased because we expect old people to become increasingly frailâ (276). This seems fair. However, there is a clear correlation between age and dementia; in an ageing population, it is worryingly possible that there will soon be an age group in which dementia is the norm. Anyone who knows somebody with dementia will confirm that the condition should always be deemed pathological, yet Cooperâs conception implies that, for the very elderly, it might not be. This second criterion is at best dubious, but there are more serious problems with the thesis. Cooper presents her view as a set of necessary and sufficient conditions, yet there are numerous non-pathological states that satisfy all three.
Cooper presents and refutes a counterexample of her own â that of unwanted pregnancy. She argues that we consider this a counterexample, only because our intuitions tend to lag behind the facts. Becoming pregnant can now (assuming one is taking contraceptive measures) be âunluckyâ, so unwanted pregnancy is a disease. The implication is that, in time, we shall appreciate this.
Whether her response is satisfactory is questionable, but I shanât dwell on this example, since one can imagine far more robust counterexamples without difficulty. I outline two possibilities below, but there are many more.
First, consider the pre-operative transsexual. A pre-operative transsexual feels he or she was either âa man born in a womanâs bodyâ, or vice versa (unlucky and bad), and one can now have a sex change (medically treatable). A pre-operative transsexual is thus, according to Cooperâs model, diseased. But of course, one does not consider the transsexual to be diseased any more than the homosexual. He or she is perfectly physically able in every respect, and the transsexual is not mentally ill.3 Perhaps Cooper might respond that our intuitions are lagging behind relatively recent developments in medicine, and that soon, now that the condition is medically treatable, we will consider the âconditionâ of âpre-operative transsexualâ a disease â but I suspect not.
Second, suppose Sam decides to get a tattoo reading âpeace and loveâ on her arm, and, as is the fashion, decides to have it written in Chinese characters. This is explained to the tattoo artist, whom Sam knows to be very skilled, honest, and reliable. On this occasion, however, the tattoo artist gets confused, and instead of âpeace and loveâ, Sam finds herself wandering around with âI hate Chinaâ decorating her upper arm (albeit in aesthetically pleasing symbols). Given that Sam is about to go to China, this is definitely bad and unlucky, but fortunately for her, this is also medically treatable. Nonetheless, it is not a disease. Cooper might respond that the tattoo is, in fact, pathological, but she would be clutching at straws.
Let us assume that neither Sam nor the pre-operative transsexual is diseased. Why do we take this to be the case? What strikes me is that neither Sam nor the transsexual has damaged or poorly functioning physiological traits (furthermore, neither is mentally ill in any respect). On the face of it, a plausible conception of disease in clinical medicine must accommodate this intuition.
The pure statistical conception
In this section I consider whether a value-free conception of disease will resolve the problems with Cooperâs tripartite account. Although the statistical thesis does rule out cases like unfortunate tattoos and the pre-operative transsexual, the view ultimately fails (and for countless reasons). However, the basic model plays a big role in both Schwartzâs account of disease (to be discussed shortly), and in Boorseâs (1977) biostatistical theory (BST),4 so a detailed exposition is warranted nonetheless.
Given the qualities expected of naturalist (value-free) views, and in particular, the thought that scientific theories often involve statistical analysis,5 it is unsurprising that some have tried to differentiate between health and disease states using mathematical models. The pure statistical model focuses on the quantifiable properties of an organismâs physiological subsystems. The precise qualities to be measured differ depending on the subsystem in question, of course, but the underlying method is (roughly) the same.
The statistical conception involves gathering data over large populations and applying formal methods to determine disease-status. Often (but not always), the measured values of a characteristic (e.g. quantities of a hormone or cell count; sizes and shapes of organs/tissues/cells; blood pressure, etc.) produce a normal distribution curve (see Figure 1.1). According to the basic statistical model, some physiological subsystem is dysfunctioning, and disease-status is met, when the measured value of the characteristic under investigation is beyond two standard deviations from the mean (Ananth 2008).
One might think this gives the thesis a normative quality, since the precise value at which âthe line is drawnâ (two standard deviations from the mean) seems somewhat arbitrary; that is, nothing in nature âfixesâ this value. Perhaps surprisingly, however, this is not particularly unscientific â at least insofar as it is not inconsistent with standard practice in other disciplines widely regarded as sciences. Central to testing significance in psychological and epidemiological studies, for example, is the Null Hypothesis Significance Test (NHST).6 When one attempts to establish a non-chancy relationship between two variables, X and Y, the null hypothesis is that any correlation the data shows is accidental. The NHST states that a result is significant only if P, the probability of the null hypothesis being true (given the results of the study), is less than 0.05. This value, although not entirely arbitrary (insofar as it would not be sensible to fix the value at 0.4 or 0.8 etc.), was ultimately chosen by R.A. Fisher early in the 20th century (1925), not by nature.
The NHST is deemed a scientific method, yet the âline-drawingâ it involves is no less arbitrary than that used in the âpure statistical methodâ of picking out disease states. If it is normal within the sciences to choose such arbitrary values, then there is no reason to think doing so should fall outside the remit of naturalistic conceptions of disease; that is, conceptions committed to employing on...