Professional decision making around next generation clinical genetics
Research type
Research Study
Full title
Professional decision making around next generation clinical genetics
IRAS ID
216130
Contact name
Adam Hedgecoe
Contact email
Duration of Study in the UK
1 years, 9 months, 31 days
Research summary
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 NHS’s 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 center 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. \n\nIt 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 multidisciplinary teams that create, review and interpret this genomic data as well as observation of clinical consultations where this information is communicated to patients and interviews with patients. 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.\n
REC name
Wales REC 3
REC reference
17/WA/0047
Date of REC Opinion
10 Mar 2017
REC opinion
Favourable Opinion