The “Black Swan Principle” and the Genetics of Complex Diseases

Abstract

The black swan principle is a philosophy theory created by Nassim Nicholas Taleb that seeks to explain rare and unpredictable events, appearances that seem to defy logic or rational explanation. These events, termed "Black Swans," have been observed in various domains, including finance, public administration, infectious diseases, and ecology. The concept of Black Swans has gained recently, significant attention in academia and practice due to its relevance in understanding extreme and rare occurrences. The “black swan” concept has been used in genetics for the unexpected developments that genome sequencing would reveal and which could have consequences for healthcare systems (e.g., increase in often unnecessary and inappropriate diagnostic investigations, increase in non-patients, etc.).