Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants

Returning genomic research results to family members raises complex questions. Genomic research on life-limiting conditions such as cancer, and research involving storage and reanalysis of data and specimens long into the future, makes these questions pressing. This author group, funded by an NIH grant, published consensus recommendations presenting a framework. This follow-up paper offers concrete guidance and tools for implementation. The group collected and analyzed relevant documents and guidance, including tools from the Clinical Sequencing Exploratory Research (CSER) Consortium. The authors then negotiated a consensus toolkit of processes and documents. That toolkit offers sample consent and notification documents plus decision flow-charts to address return of results to family of living and deceased participants, in adult and pediatric research. Core concerns are eliciting participant preferences on sharing results with family and on choice of a representative to make decisions about sharing after participant death.

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Automatic Placement of Genomic Research Results in Medical Records: Do Researchers Have a Duty? Should Participants Have a Choice?

The Journal of Law Medicine & Ethics ◽

10.1111/jlme.12323 ◽

2015 ◽

Vol 43 (4) ◽

pp. 827-842

Author(s):

Anya E.R. Prince ◽

John M. Conley ◽

Arlene M. Davis ◽

Gabriel Lázaro-Muñoz ◽

R. Jean Cadigan

Keyword(s):

Medical Record ◽

Medical Records ◽

Genomic Research ◽

Research Results ◽

Research Participants ◽

Difficult Question ◽

Automatic Placement ◽

Study Participants ◽

Research Studies

The growing practice of returning individual results to research participants has revealed a variety of interpretations of the multiple and sometimes conflicting duties that researchers may owe to participants. One particularly difficult question is the nature and extent of a researcher’s duty to facilitate a participant’s follow-up clinical care by placing research results in the participant’s medical record. The question is especially difficult in the context of genomic research. Some recent genomic research studies — enrolling patients as participants — boldly address the question with protocols dictating that researchers place research results directly into study participants’ existing medical records, without participant consent. Such privileging of researcher judgment over participant choice may be motivated by a desire to discharge a duty that researchers perceive themselves as owing to participants. However, the underlying ethical, professional, legal, and regulatory duties that would compel or justify this action have not been fully explored.

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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.

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Perspectives and ethical considerations for return of genetics and genomics research results: a qualitative study of genomics researchers in Uganda

BMC Medical Ethics ◽

10.1186/s12910-021-00724-1 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Joseph Ochieng ◽

Betty Kwagala ◽

John Barugahare ◽

Erisa Mwaka ◽

Deborah Ekusai-Sebatta ◽

...

Keyword(s):

Qualitative Study ◽

Genomic Research ◽

Return Of Results ◽

Ethical Guidelines ◽

Ethical Considerations ◽

Research Results ◽

Regulatory Frameworks ◽

Genomics Research ◽

Genetics And Genomics ◽

Clinically Significant

Abstract Background The return of genetics and genomics research results has been a subject of ongoing global debate. Such feedback is ethically desirable to update participants on research findings particularly those deemed clinically significant. Although there is limited literature, debate continues in African on what constitutes appropriate practice regarding the return of results for genetics and genomics research. This study explored perspectives and ethical considerations of Ugandan genomics researchers regarding the return of genetics and genomics research results. Methods This was a qualitative study that employed in-depth interviews. Thirty participants were purposively selected based on their expertise as genomics researchers in Uganda. Data were analysed through content analysis along the main themes of the study using a comprehensive thematic matrix, to identify common patterns arising from the narratives. NVivo software 12 was used to support data analysis. Results The return of genetics and genomics research results was generally acceptable to researchers, and some indicated that they had previously returned individual or aggregate results to participants and communities. The main reasons cited for sharing research results with participants included their clinical utility, actionability and overall benefit to society. Ethical considerations for appropriate return of results included a need for effective community engagement, genetic counselling prior to disclosure of the results, adequate informed consent, and proper assessment of the implications of, or consequences of returning of results. However, the approaches to return of results were perceived as unstandardized due to the lack of appropriate regulatory frameworks. Conclusions The return of genetic and genomic research results is generally acceptable to researchers despite the lack of appropriate regulatory frameworks. Ethical considerations for return of genetics and genomics research results are highly divergent, hence the need for national ethical guidelines to appropriately regulate the practice.

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‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research

European Journal of Human Genetics ◽

10.1038/s41431-020-00782-w ◽

2021 ◽

Author(s):

Matilda A. Haas ◽

Harriet Teare ◽

Megan Prictor ◽

Gabi Ceregra ◽

Miranda E. Vidgen ◽

...

Keyword(s):

Large Scale ◽

Genomic Medicine ◽

International Standards ◽

Security And Privacy ◽

Genomic Research ◽

Return Of Results ◽

Future Research ◽

Design And Development ◽

Participant Engagement ◽

Dynamic Consent

AbstractThe complexities of the informed consent process for participating in research in genomic medicine are well-documented. Inspired by the potential for Dynamic Consent to increase participant choice and autonomy in decision-making, as well as the opportunities for ongoing participant engagement it affords, we wanted to trial Dynamic Consent and to do so developed our own web-based application (web app) called CTRL (control). This paper documents the design and development of CTRL, for use in the Australian Genomics study: a health services research project building evidence to inform the integration of genomic medicine into mainstream healthcare. Australian Genomics brought together a multi-disciplinary team to develop CTRL. The design and development process considered user experience; security and privacy; the application of international standards in data sharing; IT, operational and ethical issues. The CTRL tool is now being offered to participants in the study, who can use CTRL to keep personal and contact details up to date; make consent choices (including indicate preferences for return of results and future research use of biological samples, genomic and health data); follow their progress through the study; complete surveys, contact the researchers and access study news and information. While there are remaining challenges to implementing Dynamic Consent in genomic research, this study demonstrates the feasibility of building such a tool, and its ongoing use will provide evidence about the value of Dynamic Consent in large-scale genomic research programs.

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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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Good Idea But Not Here! A Pilot Study of Swedish Tourism Stakeholders’ Perceptions of Halal Tourism

Sustainability ◽

10.3390/su13052646 ◽

2021 ◽

Vol 13 (5) ◽

pp. 2646

Author(s):

Saeid Abbasian

Keyword(s):

Content Analysis ◽

Pilot Study ◽

Tourism Industry ◽

Target Group ◽

Exploratory Research ◽

Swedish Study ◽

Increased Risk ◽

Insight Into

The following study is the first Swedish study on Halal tourism in Sweden. The purpose of this exploratory research is to get insight into the perception of Halal tourism in Sweden among representatives of tourism stakeholders. The overall methodology approach in this research is qualitative, consisting of 25 qualitative questionnaires, 21 short letters, four follow-up interviews, and a web observation, and content analysis was employed. The results indicate that there is a low knowledge of Halal tourism in Sweden including Swedish tourism industry. The concept is very challenging, and profits are low. It might result in problem scenarios such as detrimental effects on non-Halal tourism, cultural difficulties and increased risk of xenophobia, anti-Islamism, and tension in the society. There is low interest for Sweden among Muslim tourists as the interest and priority for Halal tourism is rather low from Swedish tourism industry. Despite Halal tourism’s importance internationally, these representatives are rather cautious and doubtful about promotion of Sweden towards this niche. Still, a majority seems to be positive to a lighter version of Muslim-friendly tourism with secular/moderate Muslims as a target group.

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Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject

The Journal of Law Medicine & Ethics ◽

10.1111/jlme.12295 ◽

2015 ◽

Vol 43 (3) ◽

pp. 529-537

Author(s):

Sarah Scollon ◽

Katie Bergstrom ◽

Laurence B. McCullough ◽

Amy L. McGuire ◽

Stephanie Gutierrez ◽

...

Keyword(s):

Cancer Genetics ◽

Recurrence Risk ◽

Genomic Research ◽

Return Of Results ◽

Genetics Research ◽

Personal Significance ◽

Pediatric Diseases ◽

Increased Risk ◽

Preventive Ethics ◽

Risk Of Cancer

In the pediatric clinical setting, the parent/guardian will almost always be the authorized representative and designated recipient of clinical and research results, making the issue of to whom results should be returned in the pediatric setting less complex than in adult settings. It is also clear that, in genomic research related to pediatric diseases such as cancer, results may be of considerable clinical, ethical, and personal significance for parents in a number of ways, including a genomic explanation of the origin of their child’s cancer, implications for the genetic testing and medical care of other siblings and of the parents themselves, and reproductive planning with regard to the recurrence risk for future children to have an increased risk of cancer. However, what remains unclear is which results should be disclosed, and under what circumstances, to parents of deceased children.

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