Daniel Navon (University of California San Diego)
It turns out that genetic mutations are both far more numerous and difficult to interpret than experts anticipated. What will this mean as we move into an era of genomic or ‘precision’ medicine? In this talk, I examine how research on people with genetic mutations is destabilizing longstanding modes of measuring, categorizing, and managing human difference. Genetic mutations and variants are increasingly used to reclassify illness, leading to the formation of support groups, foundations, specialist clinics, and dedicated literatures for conditions like the XXX, NGLY1, Fragile X, and 22q11.2 Deletion Syndromes. Today, a positive genetic test for one of these conditions can radically alter the way a patient is understood and treated. Increasingly, as the distinction between ‘carrier genes’ and mild genetic disorders is blurred, finding a mutation can even realign the very boundary between the normal and pathological.