Paper short abstract:

Huntington's disease testing proves problematic for traditional medical anthropological critiques. Medical anthropology is yet to sufficiently engage with the specificities and uniqueness of genetic testing, and would benefit from studying further upstream and from being increasingly specific.

Paper long abstract:

Huntington's disease (HD) is a late-onset neurodegenerative disease, in which the almost-universal prognosis is death within 15-20 years of onset. There is a reliable genetic test for HD, but there is neither treatment nor cure available. Roughly 15% of those who know they are 'at risk' choose to undergo testing. Most anthropological literature on HD relates to the transformation of identity and social relationships following testing and/or diagnosis, and on the ability - or lack thereof - of primary care physicians to facilitate decision-making. The main findings have been deficits in lay knowledge, attributed largely to deficits in genetic counseling; and transformation of familial/interpersonal relationships. I argue that the ability of physicians to 'translate' for laypeople is hugely hindered by a disconnect between the genetic industry and its output. However, critiques of the genetics industry in anthropology tend to examine an abstract macro-structure, treating emerging genetic biotechnologies as monolithic.

Thus, just as bioethicists are concerned with whether, and to what extent, current frameworks are equipped to deal with the social, practical, and legal complexities of the 'new genetics', I am concerned with whether medical anthropological frameworks are equipped to deal with the medical, social, and individual complexities.

HD testing is here an example of why and how medical anthropological study of genetic testing would benefit both from studying further upstream, into the system(s) in which genetic testing is used and developed; and from being increasingly specific, studying the full (social) life of one disease, condition, or biotechnology.