The ‘Missing Heritability’ of Common Disorders: Should Health Researchers Care?

Abstract

This article critiques the “missing heritability” position, which calls for greater efforts and funding to identify the genetic architecture of common disorders, even if this endeavor has yet to translate into tangible prevention, diagnosis, or treatment interventions. Supporters of the position contend that genetic variants “for” common disorders, which they argue must exist based on heritability estimates (hence their “missing heritability” position), have not been found because the current state of science and technology is not adequate to the task, yet they insist that this search warrants significant societal investments. We argue, instead, that these variants have not been found because they do not exist. The thrust of the problem with the “missing heritability” position, we propose, lies in its proponents' use of faulty concepts and research methods, including reliance on twin studies, plagued with environmental confounds; on the concept of heritability, a breeding statistic and not a measure of the importance of genetic influences on phenotypes; and on the belief that genetic variations are relevant to understanding, preventing, or treating common disorders, a belief that we argue is false. We elaborate on these problems, discuss their public health implications, and suggest future directions for a critical analysis of human genetics.