Returning genome sequences to research participants: Policy and practice

Wellcome Open Research

article

Caroline F. Wright¹  Anna Middleton¹  Jeffrey C. Barrett¹  Helen V. Firth¹  David R. FitzPatrick³  Matthew E. Hurles¹  Michael Parker⁴ 

[1] Wellcome Trust Sanger Institute, Wellcome Genome Campus;East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus;MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital;The Ethox Centre, Nuffield Department of Population Health, University of Oxford

关键词: Data sharing;    genomics;    ethics;    sequencing;    incidental findings;    DDD study;   

DOI  :  10.12688/wellcomeopenres.10942.1

学科分类：内科医学

来源: Wellcome

【 摘 要 】

Despite advances in genomic science stimulating an explosion of literature around returning health-related findings, the possibility of returning entire genome sequences to individual research participants has not been widely considered. Through direct involvement in large-scale translational genomics studies, we have identified a number of logistical challenges that would need to be overcome prior to returning individual genome sequence data, including verifying that the data belong to the requestor and providing appropriate informatics support. In addition, we identify a number of ethico-legal issues that require careful consideration, including returning data to family members, mitigating against unintended consequences, and ensuring appropriate governance. Finally, recognising that there is an opportunity cost to addressing these issues, we make some specific pragmatic suggestions for studies that are considering whether to share individual genomic datasets with individual study participants. If data are shared, research should be undertaken into the personal, familial and societal impact of receiving individual genome sequence data.

【 授权许可】

CC BY