Isaac Kohane
Professor and Chair
Department of Biomedical Informatics
Harvard Medical School
Fake diseases and dangerous phenotypes
Our current diagnostic and prognostic infrastructure is built on a wobbly foundation – one which can cause errors of omission and commission. Often this is unintended but sometimes it is used to maximize utilities of parties other than the patient. I will explore two of the roots of this epistemological frailty: premature genetic reductionism and misplaced acceptance of conventional clinical characterizations. In this era of precision medicine we have the opportunity to rebuild these diagnostic structures robustly or enshrine the mistakes of the past. I will illustrate this exploration with concrete examples from neurodevelopment, sexual differentiation, and heart disease. I will conclude with some guidelines for future nosology in medicine.
