Professional decision making around next generation clinical genetics. (360G-Wellcome-108604_Z_15_Z)

Over the past couple of years new genomic technologies, such as DNA microarrays and high throughout genomic sequencing, have begun to enter clinical practice in a range of conditions. While the promise of such approaches - as heralded by the NHSs 100,000 genomes project - is considerable, the challenges raised by integrating these technologies into the clinic are no less great. To a considerable extent, these challenges centre on professional decision making: these technologies produce large amounts of data, some of which is clinically relevant, some of which is not, but large amounts of which - for example so called VUSs, variants of unknown significance - are uncertain. It is this uncertainty - whether or not a specific stretch of DNA is clinically relevant - and the decision making processes that surround it, that this project will examine. The method used will be ethnographic observation and interviews with laboratory staff, clinical geneticists and other members of the mu ltidisciplinary teams that create, review and interpret this genomic data. While some similar work is taking place in the US, and some UK studies are exploring the impact of this kind of data, particularly around informing patients, there are no current studies focusing on the way professionals generate and interpret this kind of data.