From the inception of medical education, students are trained to recognize and categorize disease. Through the formulation of differential diagnosis we learn which constellations of symptoms are characteristic of certain pathologies, and we structure our investigations, treatment plans, and prognostic predictions accordingly. These activities ground and direct the clinical encounter. Yet, as the articles in this issue of MSJAMA illustrate, the concept of disease is inherently elusive and ambiguous, and the implications of classifying and labeling disease extend far beyond the typical patient-physician interaction.
Often the recognition and treatment of disease is straightforward; the previously well individual with a fever and a cough productive of purulent sputum or acute abdominal pain with rebound at McBurney's point occur within a well-defined paradigm, and do not challenge that paradigm's assumptions or limits. Yet how does one make sense within the clinical encounter for the more troubling boundary cases that resist easy classification? How should one think about a patient with newly diagnosed cancer who feels well yet harbors occult pathology, or a patient with debilitating symptoms that have no evident organic basis? As Winston Chiong discusses, the naming and diagnosis of disease involve evaluative judgments as well as scientific fact and are as much a social phenomenon as a scientific practice.
Assigning the label of disease to a patient is an intrinsically subjective exercise. Disease is constructed by each patient's personal histories and beliefs, by professional and lay individuals who surround and interact with the patient, and by society at large. Each construct has the power to influence the others, and each relationship has the ability to shape the way that disease is understood. In this context, patients and physicians each have the ability to affect the construction of meaning. A case in point is the individual with a genetic predisposition that increases his or her risk of developing a certain disease.
As Kelly Smith writes, there is a common perception that certain genes destine one to develop particular diseases, yet this statistical probability cannot be taken as a certainty. The implications of this are vividly illustrated by "Anonymous" who carries the BRCA mutation; she writes of inhabiting an indeterminate zone in an uncertain "world beyond the white coat." As her article poignantly demonstrates, these issues matter because attribution of labels such as "diseased," "healthy," "susceptible," or "predisposed" engender a wide range of consequences from the private and interpersonal to the larger spectrum of society. Access to health care, employment and insurance options, and lifestyle choices are all mediated by the labeling of disease and the legitimation of those labels. As Katerina Christopoulus discusses, those who occupy the sick role, whether voluntarily or not, inhabit a particular and distinctive position within society.
This issue of MSJAMA explores the ambiguity that surrounds the understanding and diagnosing of illness, and the social consequences entailed by the attribution of disease labels. It is our hope that by becoming aware of and attentive to these ambiguities, medical students as both future clinicians and future patients will have a greater awareness and sensitivity to the unknown and uncertain in medicine.
Magid CS. Developing Tolerance for Ambiguity. JAMA. 2001;285(1):88. doi:10.1001/jama.285.1.88