E-Letter responses to:

essays: Larissa K. F. Temple, Robin S. McLeod, Steven Gallinger, and James G. Wright ESSAYS ON SCIENCE AND SOCIETY: Defining Disease in the Genomics Era Science 2001; 293: 807-808 [Summary] [Full text] [PDF]

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Published E-Letter responses:

Defining Disease Is Not Straightforward

Robert L. Woolfolk, Ph.D.   (20 September 2001)

The Conpect of Disease Gone by 2020?

Alex Morozov   (10 August 2001)

Defining Disease Is Not Straightforward 20 September 2001
Robert L. Woolfolk, Ph.D., Visiting Professor Department of Psychology, Princeton University Respond to this E-Letter: Re: Defining Disease Is Not Straightforward	In their Essay, Temple, McLeod, Gallinger, and Wright explore the concept of disease in light of recent and anticipated advances in genomics. However, they do not appear to have taken into account the substantial literature addressing this topic, over several decades within numerous disciplines, and thus their Essay clouds further the already turbid waters of discussion. Their definition that a disease is a "state that places individuals at increased risk of adverse consequences" (p. 807) is one that introduces conceptual difficulties. It would count both stupidity and lack of ambition as diseases (in contemporary Western societies). Although the authors correctly assume that "adverse consequences" must be defined in relation to culture, the adversity of a predicament, ultimately, is a result of values and therefore makes the boundary between disease and "normal" variation a complex matter to which there are many kinds of cultural input. For the concept of disease to have analytical power, it must describe a kind of process, not simply any state, and that process must be causally related to an understanding of organismic functioning, defined at some scientifically fruitful level of analysis (1). Otherwise, a society might decide to label as "diseased" any individual exhibiting proscribed attitudes, appearance, or conduct (2). Also, without some consensus at the functional level of how the organism or organs are designed to function, should ideally function, or can minimally function, knowledge of underlying genetic structure or etiology will be, always, explanatorily incomplete. References and Notes 1. D. Murphy, R. L. Woolfolk, Philos. Psychiat Psychol. (in press). 2. R. L Woolfolk, Monist 82, 658 (1999).
The Conpect of Disease Gone by 2020? 10 August 2001
Alex Morozov, MD-PhD student Albert Einstein College of Medicine Respond to this E-Letter: Re: The Conpect of Disease Gone by 2020?	According to Francis Collins and Victor McKusick, "By 2020, it is likely that every tumor will have a precise molecular fingerprint determined, cataloging the genes that have gone awry, and therapy will be individually targeted to that fingerprint" (1). At least in the case of cancer, then, the concept of disease will begin to disappear. The basic assumptions in giving someone a diagnosis of, for example, squamous cell carcinoma of the lung, are (i) that there is an "essential lesion" shared between all patients so diagnosed, and (ii) that there is a common treatment approach. However, the current diagnostic tools are fundamentally inadequate. Tumors are classified on the basis of their appearance under the microscope, not based on their genomic and gene expression profiles. Therefore, neither of the two assumptions holds: recent genomic studies point to a wide patient-to-patient variability of histologically indistinguishable tumors without any traceable common "essential lesions"(2), and treatment effectiveness is extremely low. Why lump thousands or millions of unique patients under one disease name, and then break them down again into "responders" and "non- responders"? In the future, I imagine a patient will be given a compact disk with the genetic profile of their tumor and a medication cocktail with a near 100% cure rate. There will be, fortunately, no room for the concept of disease. 1. F. S. Collins, V. A. McKusick, J. Am. Med. Assoc. 285, 540 (2001). 2. C. M. Perou et al., Nature 406, 747 (2000).