Karen Kennedy

Prepublication data sharing.

Rapid release of prepublication data has served the field of genomics well. Attendees at a workshop in Toronto recommend extending the practice to other biological data sets.

Managing clinically significant findings in research: the UK10K example

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.

Open science and community norms: Data retention and publication moratoria policies in genomics projects

While modern genomics research often adheres to community norms emphasizing open data sharing, many genomics institutes and projects have recently nuanced such norms with a corpus of data release policies. In particular, publication moratoria and data retention policies have been enacted to ‘reward’ data producers and ensure data quality control. Given the novelty of these policies, this article seeks to identify and analyse the main features of data retention and publication moratoria policies of major genomics institutes and projects around the world. We find that as more collaborative genomics projects are created, and further genomic research discoveries are announced, the need for more sophisticated yet practical and effective policies will increase. Reward systems should be implemented that recognize contributions from data producers and acknowledge the need to remain dedicated to the goals of open data sharing. To this end, in addition to the current choices of employing data retention or publication moratoria policies, alternative models that would be easier to implement or less demanding on open science should also be considered.

‘Pop-Up’ Governance: developing internal governance frameworks for consortia: the example of UK10K

Innovations in information technologies have facilitated the development of new styles of research networks and forms of governance. This is evident in genomics where increasingly, research is carried out by large, interdisciplinary consortia focussing on a specific research endeavour. The UK10K project is an example of a human genomics consortium funded to provide insights into the genomics of rare conditions, and establish a community resource from generated sequence data. To achieve its objectives according to the agreed timetable, the UK10K project established an internal governance system to expedite the research and to deal with the complex issues that arose. The project’s governance structure exemplifies a new form of network governance called ‘pop-up’ governance. ‘Pop-up’ because: it was put together quickly, existed for a specific period, was designed for a specific purpose, and was dismantled easily on project completion. In this paper, we use UK10K to describe how ‘pop-up’ governance works on the ground and how relational, hierarchical and contractual governance mechanisms are used in this new form of network governance.