title: Managing clinically significant findings in research: the UK10K example.
abstract: Recent advances in sequencing technology allow data on the human genome to be generated more quickly and in greater detail than ever before. Such detail includes findings that may be of significance to the health of the research participant involved. Although research studies generally do not feed back information on clinically significant findings (CSFs) to participants, this stance is increasingly being questioned. There may be difficulties and risks in feeding clinically significant information back to research participants, however, the UK10K consortium sought to address these by creating a detailed management pathway. This was not intended to create any obligation upon the researchers to feed back any CSFs they discovered. Instead, it provides a mechanism to ensure that any such findings can be passed on to the participant where appropriate. This paper describes this mechanism and the specific criteria, which must be fulfilled in order for a finding and participant to qualify for feedback. This mechanism could be used by future research consortia, and may also assist in the development of sound principles for dealing with CSFs.
authors.affiliation: Nuffield Department of Population Health, HeLEX - Centre for Health, Law and Emerging Technologies, University of Oxford, Oxford, UK.
authors.forename: Jane
authors.initials: J
authors.lastname: Kaye
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
authors.forename: Matthew
authors.initials: M
authors.lastname: Hurles
authors.affiliation: Nuffield Department of Population Health, HeLEX - Centre for Health, Law and Emerging Technologies, University of Oxford, Oxford, UK.
authors.forename: Heather
authors.initials: H
authors.lastname: Griffin
authors.affiliation: CELLS - Centre for Ethics and Law in the Life Sciences, Institute of Philosophy, Leibniz Universitaet Hannover, Hannover, Germany.
authors.forename: Jasote
authors.initials: J
authors.lastname: Grewal
authors.affiliation: Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
authors.forename: Martin
authors.initials: M
authors.lastname: Bobrow
authors.affiliation: MRC CAiTE Centre, School of Social and Community Medicine, University of Bristol, Oakfield House, Clifton, Bristol, UK.
authors.forename: Nic
authors.initials: N
authors.lastname: Timpson
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
authors.forename: Carol
authors.initials: C
authors.lastname: Smee
authors.affiliation: Institute of Psychiatry, Kings College London, London, UK.
authors.forename: Patrick
authors.initials: P
authors.lastname: Bolton
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Durbin
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Dyke
authors.affiliation: MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK.
authors.forename: David
authors.initials: D
authors.lastname: Fitzpatrick
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
authors.forename: Karen
authors.initials: K
authors.lastname: Kennedy
authors.affiliation: Genetic Alliance UK, London, UK.
authors.forename: Alastair
authors.initials: A
authors.lastname: Kent
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
authors.forename: Dawn
authors.initials: D
authors.lastname: Muddyman
authors.affiliation: Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK.
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.affiliation: Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
authors.forename: Lucy F
authors.initials: LF
authors.lastname: Raymond
authors.affiliation: Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: Semple
authors.affiliation: Department of Twin Research, King's College London, St Thomas' Hospital, London, UK.
authors.forename: Tim
authors.initials: T
authors.lastname: Spector
mesh_terms: D035843:Biomedical Research / Q000458:organization & administration; D005826:Genetics, Medical / Q000379:methods / Q000458:organization & administration*; D033162:Incidental Findings; D033181:Information Dissemination; D019451:Information Management / Q000458:organization & administration; D017422:Sequence Analysis, DNA / Q000941:ethics*; D006113:United Kingdom