Online Program

‘missing heritability' of common disorders: Should health researchers care?

Monday, November 4, 2013 : 5:10 p.m. - 5:30 p.m.

Claudia Chaufan, MD, PhD, Social and Behavioral Sciences, Institute for Health and Aging in the School of Nursing, San Francisco, CA
Jay Joseph, Psy.D, Private Practice, Oakland, CA
This paper 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.

Learning Areas:

Basic medical science applied in public health
Chronic disease management and prevention
Clinical medicine applied in public health
Other professions or practice related to public health
Public health biology
Systems thinking models (conceptual and theoretical models), applications related to public health

Learning Objectives:
Discuss and critique the concept of "missing heritability” as a useful construct in understanding the origins and treatment of common disorders. Discuss the public health implications of this critique and suggest future directions for a critical analysis of human genetics.

Keyword(s): Genetics, Public Policy

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: This is an area of academic interest and I am published in this area.
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.