The Strangely Stubborn and Subtly Stigmatizing Search for Health Effects in Genetic Disease Gene Carriers

In the 1950s, medical geneticists demonstrated that sickle cell anemia carriers (those with one copy of the gene, not the two needed to cause the disease) are partially resistant to malaria. This discovery, later accompanied by the hypothesis that sickle cell carriers have health detriments as well, initiated a search for health effects in the carriers of various recessive genetic diseases. Over the subsequent half-century, researchers have hypothesized dozens of potential health effects for many recessive disease carriers. Dr. Valles reviews the biochemical-level and population-level evidence for health effects in Tay Sachs carriers and cystic fibrosis carriers, demonstrating that the total evidence for any such effects is poor. Yet, the proliferation of these theories has undermined the notion that one can be merely a carrier of a disease gene, placing such carriers under undue medical scrutiny. Dr. Valles reviews how such scrutiny has had negative social effects on sickle cell carriers and argues that similar negative effects threaten other genetic disease carriers.
Sean Valles, PhD
Assistant Professor in Lyman Briggs College and Department of Philosophy at MSU
Recorded January 19, 2011