Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?

Budin‐Ljøsne, Isabelle; Mascalzoni, Deborah; Soini, Sirpa; Machado, Helena; Kaye, Jane; Bentzen, Heidi Beate; Rial‐Sebbag, Emmanuelle; D’Abramo, Flavio; Witt, Michał; Schamps, Geneviève; Katić, Višnja; Krajnović, D.; Harris, Jennifer R.

doi:10.1089/bio.2015.0115

Cited by 25 publications

(30 citation statements)

References 35 publications

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“… 14 However, countries have different policies regarding the RoR: some prohibit the return, others provide general guidelines, and many do not have any guidelines. 67 , 99 These conflicting policies are problematic because, within an international consortium, some participants may benefit from the RoR and others not. Additionally, projects could decide not to offer the RoR to avoid conflicts with regulators in countries that restrict or prohibit the RoR.…”

Section: Which Findings Should Be Offered In Psychiatric Genomics Resmentioning

confidence: 99%

Improved ethical guidance for the return of results from psychiatric genomics research

et al. 2017

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There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important, and medically actionable genomic findings (e.g., pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results. Here, we review the return of results debate in genomics research and propose that, as for genomic studies of other medical conditions, psychiatric genomics researchers should offer findings that meet the minimum criteria stated above. Additionally, if resources allow, psychiatry researchers could consider offering to return pre-specified “clinically valuable” findings even if not medically actionable – for instance, findings that help corroborate a psychiatric diagnosis, and findings that indicate important health risks. Similarly, we propose offering “likely clinically valuable” findings, specifically, variants of uncertain significance potentially related to a participant’s symptoms. The goal of this Perspective is to initiate a discussion that can help identify optimal ways of managing the return of results from psychiatric genomics research.

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Section: Which Findings Should Be Offered In Psychiatric Genomics Resmentioning

confidence: 99%

Improved ethical guidance for the return of results from psychiatric genomics research

et al. 2017

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“…Limiting return to clinically actionable results was seen as a way to guard against the introduction of harm—which would mean that the opportunity for benefit would accrue to only a small fraction of participants and possibly mostly in the future, as more is learned about effective prevention and treatment targeted to specific traits. These findings point to the importance of setting realistic expectations among participants concerning benefit, careful decisions about which results will be offered, and the commensurate allocation of research resources to support an ethical process of return, potentially including individualized interpretation, counseling, and referral [ 24 – 28 ]. It is essential to balance the use of limited research resources for these purposes with two key obligations: maintaining fidelity to the goal of generating generalizable knowledge for the benefit of all, and avoiding the perpetuation of misconceptions about the nature research.…”

Section: Discussionmentioning

confidence: 99%

Thought leader perspectives on benefits and harms in precision medicine research

2018

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Precision medicine research is underway to identify targeted approaches to improving health and preventing disease. However, such endeavors raise significant privacy and confidentiality concerns. The objective of this study was to elucidate the potential benefits and harms associated with precision medicine research through in-depth interviews with a diverse group of thought leaders, including primarily U.S.-based experts and scholars in the areas of ethics, genome research, health law, historically-disadvantaged populations, informatics, and participant-centric perspectives, as well as government officials and human subjects protections leaders. The results suggest the prospect of an array of individual and societal benefits, as well as physical, dignitary, group, economic, psychological, and legal harms. Relative to the way risks and harms are commonly described in consent forms for precision medicine research, the thought leaders we interviewed arguably emphasized a somewhat different set of issues. The return of individual research results, harm to socially-identifiable groups, the value-dependent nature of many benefits and harms, and the risks to the research enterprise itself emerged as important cross-cutting themes. Our findings highlight specific challenges that warrant concentrated care during the design, conduct, dissemination, and translation of precision medicine research and in the development of consent materials and processes.

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“…It has been increasingly demonstrated that biobanks should inform genomic results to donors [11] but there are only a few concrete examples, partly due to many legal, financial, organizational, and societal challenges that need to be tackled first [12]. Some biobanks have tested a model for contacting donors to inform them about certain results, as described by Haukkala et al [13] and Leitsalu et al [14].…”

Section: Discussionmentioning

confidence: 99%

“…Lack of qualified staff is also a problem, since clinical geneticists and/or genetic counselors are few and primarily needed in clinical practice. Thus, practical challenges outweigh the legal ones [12]. When biobanks start to concretely plan the processes of returning results, different attempts to solve the practical obstacles will need to be carefully investigated.…”

Section: Discussionmentioning

confidence: 99%

Perceptions of legislation relating to the sharing of genomic biobank results with donors—a survey of BBMRI-ERIC biobanks

Brunfeldt

Teare

Soini³

et al. 2018

Eur J Hum Genet

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Biobanks accumulate huge amounts of research findings, including participants' genomic data. Increasingly this leads to biobanks receiving research results that could be of clinical significance to biobank participants. The EU Horizon 2020 Project 'Genetics Clinic of the Future' surveyed European biobanks' perceptions of the legal and regulatory requirements for communicating individual research results to donors. The goal was to gain background knowledge for possible future guidelines, especially relating to the consent process. The Survey was implemented using a web-based Webropol tool. The questionnaire was sent at the end of 2015 to 351 European biobanks in 13 countries that are members of BBMRI-ERIC (Biobanking and Biomolecular Resources Research Infrastructure-European Research Infrastructure Consortium). Seventy-two biobanks responded to the survey, representing each of the 13 BBMRI Member States. Respondents were mainly individuals responsible for the governance of biobanks. The replies indicate that the majority of the respondents thought that their national legislation allowed them to contact participants to communicate results, and that research participants had the right to request their results. However, respondents' understanding of their national legislation varied even within member states. Our results indicate that legislation applied to biobanks in many countries may be scattered and difficult to interpret. In BBMRI-ERIC, there is an ongoing discussion about the need for European recommendations on sharing genomic biobank results with donors, which may pave the way for more coherent global guidelines. Our results form a basis for this work.

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Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?

Cited by 25 publications

References 35 publications

Improved ethical guidance for the return of results from psychiatric genomics research

Improved ethical guidance for the return of results from psychiatric genomics research

Thought leader perspectives on benefits and harms in precision medicine research

Perceptions of legislation relating to the sharing of genomic biobank results with donors—a survey of BBMRI-ERIC biobanks

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