In Australia, along with many other countries, limited guidance or other support strategies are currently available to researchers, institutional research ethics committees, and others responsible for making decisions about whether to return genomic findings with potential value to participants or their blood relatives. This lack of guidance results in onerous decision-making burdens—traversing technical, interpretative, and ethical dimensions—as well as uncertainty and inconsistencies for research participants. This article draws on a recent targeted consultation conducted by the Australian National Health and Medical (...) Research Council to put forward strategies for supporting return of finding decision-making. In particular, we propose a pyramid of decision-making support: decision-making guidelines, technical and interpretative assistance, and ethical assistance for intractable “tough” cases. Each step of the pyramid involves an increasing level of regulatory involvement and applies to a smaller subsection of genomic research findings. Implementation of such strategies would facilitate a growing evidence base for return of finding decisions, thereby easing the financial, time, and moral burdens currently placed on researchers and other relevant decision-makers while also improving the quality of such decisions and, consequently, participant outcomes. (shrink)

Individual research results from population-based genetic and genomic research are traditionally not disclosed to research participants. Current practices of non-disclosure are, however, being challenged by an increasing number of scientists, ethicists and policy-makers who make arguments in favour of disclosing at least individual results of potential health or lifestyle significance to research participants. Simultaneously, research participants are expressing greater interest in accessing their results. This article first provides an overview of main arguments for and against the disclosure of individual research (...) results to research participants. Next, it discusses the need for a move from the current ethical framework under which researchers operate, which is rather protective of research participants and does not encourage disclosure, to a new ethical framework that would better cope with current developments within the field. Comparative analysis of existing and potential ethical frameworks favours implementation of an ethical framework aimed at enhancing the autonomy of research participants through the disclosure of individual research results. Finally, this article explores practical models of disclosure that could be used under such a new framework. A model of disclosure that takes into account the two key criteria of communicability of research results and the research participant’s preferences to determine which results to disclose is found to comply best with the selected ethical framework. (shrink)

Current guidelines on investigators' responsibilities to communicate research results to study participants may differ on whether investigators should proactively re-contact participants, the type of results to be offered, the need for clinical relevance before disclosure, and the stage of research at which results should be offered. Lack of consistency on these issues, however, does not undermine investigators' obligation to offer to disclose research results: an obligation rooted firmly in the principle of respect for research participants.

BackgroundA fundamental ethical challenge in conducting genomics research is the question of what and how individual level genetic findings and aggregate genomic results should be conveyed to research participants and communities. This is within the context of minimal guidance, policies, and experiences, particularly in Africa. The aim of this study was to explore the perspectives of key stakeholders' on returning genomics research results to participants in Kenya.MethodsThis qualitative study involved focus group discussions (FGDs) and in-depth interviews (IDIs) with 69 stakeholders. (...) The purposively selected participants, included research ethics committee (REC) members (8), community members (44), community resource persons (8), and researchers (9). A semi-structured interview guide was used to facilitate discussions. Six FGDs and twenty-five (IDIs) were conducted among the different stakeholders. The issues explored in the interviews included: (1) views on returning results, (2) kind of results to be returned, (3) value of returning results to participants, and (4) challenges anticipated in returning results to participants and communities. The interviews were audio-recorded, transcribed verbatim, and coded in Nvivo 12 pro. Thematic and content analysis was conducted.ResultsParticipants agreed on the importance of returning genomic results either as individual or aggregate results. The most cited reasons for returning of genomic results included recognizing participants' contribution to research, encouraging participation in future research, and increasing the awareness of scientific progress. Other aspects on how genomic research results should be shared included sharing easy to understand results in the shortest time possible and maintaining confidentiality when sharing sensitive results.ConclusionsThis study identified key stakeholders’ perspectives on returning genomic results at the individual and community levels in two urban informal settlements of Nairobi. The majority of the participants expect to receive feedback about their genomic results, and it is an obligation for researchers to see how to best fulfil it. (shrink)

Human genetic and genomic research can yield information that may be of clinical relevance to the individuals who participate as subjects of the research. It has been common practice among researchers to notify participants during the informed consent process that no individual results will be disclosed, “incidental” or otherwise. However, as genetic information obtained in research becomes orders of magnitude more voluminous, increasingly accessible online, and more informative, this precedent may no longer be appropriate. There is not yet consensus on (...) the responsibilities of researchers to disclose individual research results to research participants. Empirical research suggests that participants want to know individual research results. On the other hand, the increased resolution and power aforded by new genomic analyses may lead to fndings of statistical, but not necessarily clinical, signifcance. This paper addresses the issues to be considered in deciding whether and how to disclose “incidental” fndings or other fndings of clinical signifcance that arise in the course of human genomic and genetic research. What research results should be ofered, and what should not be ofered? For which research should individual results be ofered to research participants, when should they be ofered, how, and to whom? (shrink)

Human genetic and genomic research can yield information that may be of clinical relevance to the individuals who participate as subjects of the research. However, no consensus exists as yet on the responsibilities of researchers to disclose individual research results to participants in human subjects research. “Genetic and genomic research” on humans varies widely, including association studies, examination of allele frequencies, and studies of natural selection, human migration, and genetic variation. For the purposes of this article, it is defined broadly (...) to include analysis of DNA collected from humans that has implications for human health. This paper addresses both research results of individual research participants that may be an intended product of the research, as well as unanticipated, “incidental” findings. (shrink)

There is a growing consensus that results generated through multiplex genetic tests, even those produced as a part of research, should be reported to providers and patients when they are considered “actionable,” that is, when they could be used to inform some potentially beneficial clinical action. However, there remains controversy over the precise criterion that should be used in identifying when a result meets this standard. In this paper, we seek to refine the concept of “actionability” by exploring one proposed (...) use for genetic test results. We argue that genetic test results indicating that a patient is at risk for developing a chronic health condition should not be considered actionable if the only potential value of that result is to motivate patients to make changes in their health behaviors. Since the empirical research currently available on this question is equivocal, we explore relevant psychological theories of human motivation to demonstrate that current theory does not support the assumption that information about genetic risk will be motivating to most patients in their attempts to make changes in health behaviors. (shrink)

Large-scale whole genome sequencing (WGS) studies promise to revolutionize cancer research by identifying targets for therapy and by discovering molecular biomarkers to aid early diagnosis, to better determine prognosis and to improve treatment response prediction. Such projects raise a number of ethical, legal, and social (ELS) issues that should be considered. In this study, we set out to discover how these issues are being handled across different jurisdictions.