American Anthropology Association Annual Meeting

  • Samuel Taylor-Alexander (Speaker)

Activity: Participating in or organising an event typesParticipation in conference


Since the complete of the human genomic project, scientists and policy makers have promised a genomic revolution that would result in a whole scale rethinking of biomedical practice. This paper examines how the difficulties associated with producing corollary therapies has given way to a “turn to diagnosis” in which the clinical application of genomic medicine is focused on detection of diseases: Clinical Exome Sequencing provides the ability to study all relevant parts of genome at once, improving diagnostic certainty and decreasing lag in disease detection. Drawing on examples from research into rare diseases in the United Kingdom, including The 100,000 Genomes Project, I argue that alongside the promise of improving diagnosis of complex conditions exists the risk of turning attention away from treatment, and from living with a condition with no clear treatment pathway. The history of research into rare diseases in the United Kingdom shows how an uneven landscape has emerged, largely influenced by pharmaceutical sponsored patient advocacy groups and political dis/interest. This has resulted in the emergence of “knowable” rare diseases and “orphan rare diseases,” of conditions that have achieved politic-scientific backing and those that have not. By asking whether the turn to diagnosis offers the potential to flatten this landscape and provide more complete access to medical care for people with rare diseases, I emphasise the importance of understanding the space between disease detection and treatment when implementing novel genetic technologies.
Period21 Nov 2015
Event typeConference
LocationDenver, United KingdomShow on map