Managing clinically significant findings in research: the UK10K example

Jane Kaye, Matthew Hurles, Heather Griffin, Jasote Grewal, Martin Bobrow, Nic Timpson, Carol Smee, Patrick Bolton, Richard Durbin, Stephanie Dyke, David Fitzpatrick, Karen Kennedy, Alastair Kent, Dawn Muddyman, Francesco Muntoni, Lucy F Raymond, Robert Semple, Tim Spector

Research output: Contribution to journalArticlepeer-review


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.European Journal of Human Genetics advance online publication, 15 January 2014; doi:10.1038/ejhg.2013.290.
Original languageEnglish
JournalEuropean Journal of Human Genetics
Publication statusPublished - 15 Jan 2014


Dive into the research topics of 'Managing clinically significant findings in research: the UK10K example'. Together they form a unique fingerprint.

Cite this