Return of individual research results from genomic research: A systematic review of stakeholder perspectives

Abstract

Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to systematically review the empirical literature exploring stakeholders’ perspectives on return of individual research results (IRR) from genomic research. We examined preferences for receiving or willingness to return IRR, and experiences with either receiving or returning them. The systematic searches were conducted across five major databases in August 2018 and repeated in April 2020, and included studies reporting findings from primary research regardless of method (quantitative, qualitative, mixed). Articles that related to the clinical setting were excluded. Our search identified 221 articles that met our search criteria. This included 118 quantitative, 69 qualitative and 34 mixed methods studies. These articles included a total number of 118,874 stakeholders with research participants (85,270/72%) and members of the general public (40,967/35%) being the largest groups represented. The articles spanned at least 22 different countries with most (144/65%) being from the USA. Most (76%) discussed clinical research projects, rather than biobanks. More than half (58%) gauged views that were hypothetical. We found overwhelming evidence of high interest in return of IRR from potential and actual genomic research participants. There is also a general willingness to provide such results by researchers and health professionals, although they tend to adopt a more cautious stance. While all results are desired to some degree, those that have the potential to change clinical management are generally prioritized by all stakeholders. Professional stakeholders appear more willing to return results that are reliable and clinically relevant than those that are less reliable and lack clinical relevance. The lack of evidence for significant enduring psychological harm and the clear benefits to some research participants suggest that researchers should be returning actionable IRRs to participants.

The long‐term impact of receiving incidental findings on parents undergoing genome‐wide sequencing

“…Reasons for declining IFs or secondary findings include a lack of understanding, worry of increased psychological burden, and fear of insurance discrimination (Anderson et al, 2017;Mackley et al, 2018). However, individuals who decline IFs remain a minority and this is consistent in both the clinical and research settings, although the boundary between these two contexts is blurring in translational genomics (Vears et al, 2021).…”

Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries

“…13,14,[24][25][26][27] This work, however, is sparse compared with the volume of studies generated within United States and limited in its extension of the geographical and cultural reach of research. 19 Our findings suggest that these limitations have implications for genomics policy, both in the formal development of international standards and guidance, and in the extent to which pioneer initiatives function as informal exemplars of best practice.…”

“…16,18 However, this discourse has mostly involved researchers, policy makers, and public audiences from the United States, and thus, it cannot be assumed that it will naturally translate to global contexts outside the United States. 19 The differences in policy and normative positions on RoR around the world reflects differing cultural views about participant needs, different national health care systems, and the constraints of research sector resources in different contexts. 5 To date, however, there is little evidence on how public perceptions of the desirability of RoR-and their ability to motivate participation-vary across such contexts and internationally.…”

Should institutions fund the feedback of individual findings in genomic research?

“…In this way, this article is different (in very important ways) from other studies, which, for example, have demonstrated how institutions have a duty to support return as a form of ancillary care or additional foreseeable service in research, exploring this duty by appealing mostly to norms and principles dominant in the Global North 13. The study is also different from other descriptive studies14 15 that report participants’ views on cost-related challenges around feeding back findings in genomic research and opinions about how to address the same. This study is also different from non-descriptive studies16–18 that aim to develop a decision flow chart and/or suggest principles that researchers can draw on to manage incidental findings.…”