Defining genetic disease

Abstract : The concept of genetic disease refers to the idea that one or more genes are the cause of disease. Under this definition, problems arise when it comes to the use of the term “cause”. Moreover, genes alone cannot explain the development of a disease; environmental causes are also at play. So when is giving primary importance to genetic causation justified? In his paper “The Concept of Genetic Disease” (2004), David Magnus differentiates three competing concepts of genetic disease related to three approaches of causality. He concludes that none is really acceptable. Finding insufficiencies in each approach, he ultimately adopts a definition of genetic disease that arises from medical uses. In this contribution, I will specify the three conceptions of genetic causality and defend the idea that they function together in the definition of a disease as a genetic disease.