Public preferences for the return of research results in genetic research: a conjoint analysis

Five years ago, an article co-written by some of us (Joly and Simard) presented an emerging trend to disclose some individual genetic results to research participants within the international research community. At the time, ethical norms and scholarly publications on the return of results often did not distinguish between the return of research results in general and the return of unexpected results (also called incidental findings). Both technologies and research practices have evolved significantly. Today whole genome and exome sequencing are increasingly affordable and frequently used in genetic research. Because these techniques produce a vast amount of interpretable and non-interpretable data (i.e., data of unproven significance) about an individual, the issue of how to manage information generated by such technologies needs to be considered. However, the development of international ethical guidelines has not kept up with the rapid pace of technological progress. Indeed developments in genomic biobanking also challenge the duty to disclose research results.

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Statement of principles on the return of research results and incidental findings in paediatric research: a multi-site consultative process

Genome ◽

10.1139/gen-2015-0092 ◽

2015 ◽

Vol 58 (12) ◽

pp. 541-548 ◽

Cited By ~ 14

Author(s):

Karine Sénécal ◽

Vasiliki Rahimzadeh ◽

Bartha M. Knoppers ◽

Conrad V. Fernandez ◽

Denise Avard ◽

...

Keyword(s):

Incidental Findings ◽

Ethical Issues ◽

Grey Literature ◽

Genetic Research ◽

Return Of Results ◽

Paediatric Research ◽

Consultation Process ◽

Research Results ◽

Stakeholder Groups ◽

Return Of Research Results

This paper proposes a set of recommendations for the return of research results and incidental findings in paediatrics. The Network of Applied Genetic Medicine of Quebec spearheaded the initiative to develop the Statement of Principles on the Return of Research Results and Incidental Findings, which was the result of a consultation process with clinical and research experts in the field. To formulate the Statement of Principles, the authors (i) reviewed empirical and grey literature on the return of research results and incidental findings in Europe and Canada, (ii) conducted a qualitative study of stakeholder groups, (iii) developed, and (iv) validated the recommendations through consultations with the stakeholder groups. The Statement of Principles provides a useful disclosure tool for deciding when, and under what circumstances to return research results and incidental findings. It addresses the issue of return of results in genetic research generally, and has also specific principles for various research contexts, including paediatric research. It delineates ethical issues unique to paediatric research, and provides a framework to guide research ethics committees as well as the research community in addressing these issues.

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Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study

Genetics in Medicine ◽

10.1038/gim.2011.66 ◽

2012 ◽

Vol 14 (4) ◽

pp. 451-457 ◽

Cited By ~ 121

Author(s):

Juli Murphy Bollinger ◽

Joan Scott ◽

Rachel Dvoskin ◽

David Kaufman

Keyword(s):

Focus Group ◽

Genetic Research ◽

Focus Group Study ◽

Public Preferences ◽

Research Results

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Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

ACI Open ◽

10.1055/s-0040-1719059 ◽

2020 ◽

Vol 04 (02) ◽

pp. e132-e135

Author(s):

Luke V. Rasmussen ◽

Christin Hoell ◽

Maureen E. Smith ◽

Rex Chisholm ◽

Justin Starren ◽

...

Keyword(s):

Genetic Research ◽

Lessons Learned ◽

Return Of Results ◽

Patient Portal ◽

Test Results ◽

Research Results ◽

Genetic Test Results ◽

Future Return ◽

New Research ◽

Genetic Results

Abstract Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

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