Theor Med Bioeth. 2000 Jan; 21(1): 85-101.

Medical informatics and the concept of disease.

Schaffner KF.

George Washington University, Washington DC 20052, USA. [email protected]

This paper attempts to address the general question whether information technologies, as applied in the area of medicine and health care, have or are likely to change fundamental concepts regarding disease and health. After a short excursion into the domain of medical informatics I provide a brief overview of some of the current theories of what a disease is from a more philosophical perspective, i.e. the "value free" and "value laden" view of disease. Next, I consider at some length, whether health care informatics is currently modifying fundamental concepts of disease. To this question I will answer largely in the negative, and I will provide the sketch of some arguments from current research programs in medical informatics why I think this is the case. This argumentation is supported by a detailed account of how the disease profile for beriberi heart disease, used in one of the major medical informatics diagnostic programs, QMR (and its ancestor INTERNIST-1), was developed, and why at least this program essentially follows received views of traditional medicine. The one main exception to the conformity of this program to "received" views of a disease occurs when the program's designers need to fine-tune a disease definition. This fine-tuning is to comport with the expert's perspective on the disease, including his or her epistemic values, as well as the program's other resources for diagnosing components of a disease.