The Uncertain Definition of Diseases in the Light of Emerging Technologies

Abstract

The development of powerful new technological tools (especially in the field of molecular biology and the neurosciences) on the one hand, and of our potential for digitally recording huge amounts of information in every field (medicine included) on the other, is rapidly challenging the classic course of a diagnostic process based on the onset of symptoms prompting physical and instrumental exams and ultimately leading to a clinical diagnosis. The particular cases of screening and of incidental findings are also considered and discussed. Nowadays, the definition of a disease is increasingly related to the particular tools used to diagnose it more or less reliably and consistently across time and populations. This new and constantly evolving situation inevitably poses important ethical issues, such as individuals' right to keep their health-related information confidential, but also the responsibility of National Health Systems to the communities they serve. Lifelong longitudinal studies based on electronic healthcare archives have been recommended for the purposes of exploring the impact of new technologies on the health profile of the general population, and the underlying unknown dimension of the real distribution of diseases in said population. An example of birth-cohort from NorthEast of Italy using electronic health archives is presented and discussed.