Exploring the ethics of incidental findings from whole genome studies: understanding what research participants, genomic researchers and genetics professionals want
14th October 2011
The poster presentation was featured in the session called “Ethical, Legal, Social and Policy Issues in Genetics” at the conference hosted in in Montreal, Canada.
Abstract:
The Deciphering Developmental Disorders (DDD) project will use the latest whole genome technologies to investigate 12,000 children with undiagnosed developmental delay and their parents from every Regional Genetics Service in the UK. The aim of this is to identify new genetic causes for developmental disorders. However, in doing so, clinically significant ‘incidental findings’ will be uncovered. For example, a BRCA1 mutation may be found in a two year old. Such a finding is unlikely to be related to the developmental disorder and yet could still be clinically significant to the child in later life as well as to other family members. Incidental findings could include variants of known and unknown significance, information about life-threatening and serious conditions and information about carrier status. In the DDD research project, incidental findings will not be revealed to participants until more is known about the ethical implications of reporting such results. However, pressure is mounting from policy makers and ethicists to share clinically significant incidental findings, the thinking being that it is unethical to withhold genetic information that could enable the research participant to take preventative or therapeutic action. Whilst there is often sympathy with this position, some genomic researchers are concerned that the time spent searching for, interpreting and reporting incidental findings unrelated to the research aims might jeopardise attaining those aims. As yet there are no published large-scale studies that have gathered empirical data on any of these issues; we aim to address this omission as part of the DDD project. We are ascertaining the views of research participants, genomic researchers, genetic health professionals and laboratory staff. Our questions focus on attitudes towards sharing incidental findings, how such findings could be categorized, what to do with findings of unknown significance, attitudes towards mining specifically for certain types of incidental findings as well as views on how consenting procedures in whole genome studies should be structured. We have designed a social sciences study using a mixed methods approach, utilising both quantitative and qualitative techniques. Throughout 2011 more than 20,000 people will be invited to participate in an online questionnaire and 50 invited for face-to-face interview. We aim to report the first findings from our study at the ICHG conference.
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