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

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.

Download Full-text

Return of Research Results: General Principles and International Perspectives

The Journal of Law Medicine & Ethics ◽

10.1111/j.1748-720x.2011.00625.x ◽

2011 ◽

Vol 39 (4) ◽

pp. 583-592 ◽

Cited By ~ 18

Author(s):

Emmanuelle Lévesque ◽

Yann Joly ◽

Jacques Simard

Keyword(s):

Technological Progress ◽

Genetic Research ◽

Return Of Results ◽

Ethical Guidelines ◽

Research Results ◽

Scholarly Publications ◽

International Perspectives ◽

Rapid Pace ◽

Return Of Research Results ◽

Ethical Norms

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.

Download Full-text

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.

Download Full-text

Population studies: return of research results and incidental findings Policy Statement

European Journal of Human Genetics ◽

10.1038/ejhg.2012.152 ◽

2012 ◽

Vol 21 (3) ◽

pp. 245-247 ◽

Cited By ~ 66

Author(s):

Bartha Maria Knoppers ◽

Mylène Deschênes ◽

Ma’n H Zawati ◽

Anne Marie Tassé

Keyword(s):

Incidental Findings ◽

Population Studies ◽

Policy Statement ◽

Research Results ◽

Return Of Research Results

Download Full-text

Erratum: The past, present, and future of the debate over return of research results and incidental findings

Genetics in Medicine ◽

10.1038/gim.2012.53 ◽

2012 ◽

Vol 14 (6) ◽

pp. 630-630

Keyword(s):

Incidental Findings ◽

Research Results ◽

The Past ◽

Return Of Research Results

Download Full-text

The Return of Results of Deceased Research Participants

The Journal of Law Medicine & Ethics ◽

10.1111/j.1748-720x.2011.00629.x ◽

2011 ◽

Vol 39 (4) ◽

pp. 621-630 ◽

Cited By ~ 11

Author(s):

Anne Marie Tassé

Keyword(s):

Population Studies ◽

Genetic Research ◽

Family Members ◽

Research Participant ◽

Return Of Results ◽

Research Results ◽

Research Participants ◽

Related Family ◽

Ethical And Legal Issues

Until the mid-20th century, biomedical research centered on the study of specific diseases, concerned with short periods of time and small groups of living research participants. However, the growth of longitudinal population studies and long-term biobanking now forces the research community to examine the possibility of the death of their research participants.The death of a research participant raises numerous ethical and legal issues, including the return of deceased individuals’ research results to related family members. As with the return of individual research results for living research participants, the question of the obligation to return a deceased person’s research results to family members has yet to be settled. This question is particularly acute in the context of genetic research since the research results from one individual may have health implications for all biological relatives.

Download Full-text

International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access

The Journal of Law Medicine & Ethics ◽

10.1111/jlme.12301 ◽

2015 ◽

Vol 43 (3) ◽

pp. 576-593

Author(s):

Rebecca Branum ◽

Susan M. Wolf

Keyword(s):

Genetic Risk ◽

Incidental Findings ◽

Research Community ◽

Genomic Research ◽

Return Of Results ◽

Research Results ◽

International Policies

Debate over return of results and incidental findings to participants in genetic and genomic research has exploded over the last decade. At this point, there is wide agreement that investigators have a responsibility to anticipate discovery of findings that may warrant return, to incorporate in protocols a plan for evaluating such findings, and to offer at least some of these results to participants consenting to such return. However, the issue of how to handle questions from a participant’s genetic relatives about their own risk, or whether investigators should alert relatives to a genetic risk they may share, has garnered much less attention. Only recently has the genomic research community begun to debate these questions and offer recommendations.

Download Full-text