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

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.

Return of individual research results: What do participants prefer and expect?

Newer data platforms offer increased opportunity to share multidimensional health data with research participants, but the preferences of participants for which data to receive and how is evolving. Our objective is to describe the preferences and expectations of participants for the return of individual research results within Project Baseline Health Study (PBHS). The PBHS is an ongoing, multicenter, longitudinal cohort study with data from four initial enrollment sites. PBHS participants are recruited from the general population along with groups enriched for heart disease and cancer disease risk. Cross-sectional data on return of results were collected in 2017–2018 from an (1) in-person enrollment survey (n = 1,890), (2) benchmark online survey (n = 1,059), and (3) participant interviews (n = 21). The main outcomes included (1) preferences for type of information to be added next to returned results, (2) participant plans for sharing returned results with a non-study clinician, and (3) choice to opt-out of receiving genetic results. Results were compared by sociodemographic characteristics. Enrollment and benchmark survey respondents were 57.1% and 53.5% female, and 60.0% and 66.2% white, respectively. Participants preferred the following data types be added to returned results in the future: genetics (29.9%), heart imaging, (16.4%), study watch (15.8%), and microbiome (13.3%). Older adults (OR 0.60, 95% CI: 0.41–0.87) were less likely to want their genetic results returned next. Forty percent of participants reported that they would not share all returned results with their non–study clinicians. Black (OR 0.64, 95% CI 0.43–0.95) and Asian (OR 0.47, 95% CI 0.30–0.73) participants were less likely, and older participants more likely (OR 1.45–1.61), to plan to share all results with their clinician than their counterparts. At enrollment, 5.8% of participants opted out of receiving their genetics results. The study showed that substantial heterogeneity existed in participant’s preferences and expectations for return of results, and variations were related to sociodemographic characteristics.

Testing the GDPR in Relation to Biobanking

This chapter looks at when the General Data Protection Regulation (GDPR) applies, rationae materiae, to biobanking—only when the law applies to biobanking can it be expected to provide any protection for genetic privacy rights in biobanking at all. The GDPR's applicability criteria are outlined in Article 2; criteria concern both the types of processing activity covered by the GDPR and the mechanics of processing covered by the GDPR. In relation to the mechanics of biobank processing, the situation is complex. The key question which emerges is which types of biobanking substances can qualify as personal data? The concept of personal data can be usefully broken down into two aspects of any processing operation. First, the substance being processed: to qualify as personal data, a substance must be able to fulfil three criteria. A substance must be ‘information’, it must ‘relate to’ a specific person, and that person must be a ‘natural person’. In the biobanking context, health, lifestyle, and biographical information, sequenced genomic data, and individual research results certainly fulfil these criteria. Second, the link between the substance and a specific individual: to qualify as personal data, a substance must relate to an individual who is ‘identified or identifiable’. All biobanking substances processed in either linked or pseudonymised form will certainly qualify as ‘identified or identifiable’.

At the Research-Clinical Interface

Whether individual results of genetic research studies ought to be disclosed to study participants has been debated in recent decades. Previously, the prevailing expert view discouraged the return of individual research results to participants because of the potential lack of analytic validity, questionable clinical validity and medical actionability, and questions about whether it is the role of research to provide participants with their data. With additional knowledge of participant perspectives and shifting views about the benefits of research and respect for participants, current expert consensus is moving toward support of returning such results. Significant ethical controversies remain, and there are many practical questions left to address, including appropriate procedures for returning results and the potential burden to clinicians when patients seek guidance about the clinical implications of research results. In this review, we describe current views regarding the return of genetic research results, including controversies and practical challenges, and consider the application of these issues to research on apolipoprotein L1 (APOL1), a gene recently associated with health disparities in kidney disease. Although this case is unique, it illustrates the complexities involved in returning results and highlights remaining questions.

Ethical Considerations in the Conduct of Unregulated mHealth Research: Expert Perspectives

To assist in resolving ethical questions surrounding unregulated mHealth research, we conducted in-depth qualitative interviews with experts from four key stakeholder groups: patient/research advocates, researchers, regulatory professionals, and mobile app/device developers. They discussed challenges and potential solutions in the context of two hypothetical scenarios involving unregulated mHealth research, including notifications/permissions for research use of mHealth data, data access procedures, new primary data collection, offering individual research results, and data sharing and dissemination.