Return of Results Policies for Genomic Research: Current Practices & The Hearts in Rhythm Organization Approach

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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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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INCIDENTAL FINDINGS IN BIO BANKS IN SOUTH AFRICA: ETHICAL AND LEGAL ISSUES

Obiter ◽

10.17159/obiter.v35i2.11905 ◽

2014 ◽

Vol 35 (2) ◽

Author(s):

Maureen Mswela ◽

Patricia Molusi

Keyword(s):

South Africa ◽

Incidental Findings ◽

Genomic Research ◽

Return Of Results ◽

Research System ◽

Primary Research ◽

Potential Health ◽

Secondary Research ◽

Biobank Research ◽

Legal Challenges

Biobanks have come to be essential apparatuses of genetic and genomic research as they are seen as essential tools for translational medicine in particular. Various unique ethical and legal challenges arise in the course of biobanking as biobanks generate a range of ethical and legal challenges related to privacy, informed consent, control and ownership, withdrawal of samples, commercialization, genomic sovereignty, return of results, incidental findings, and research governance. These issues have generated much policy debate within the international world, and yet in South Africa, debates on the ethical and legal challenges posed by biobanks and biobank networks still remain alienated. According to Wolf, biobanks are the dominant part of a “biobank research system,” consisting of primary research also known as collection sites, the biobank, and secondary research sites that access biobank data or samples for further research. Therefore, incidental findings could arise at several points in a biobank-research system, that is, in primary research, biobank research, and secondary research. Within the South African context literature and guidance are sparse on the handling of significant incidental findings which are identified in biobank systems. How incidental findings should be handled as well as the role of biobanks in enabling this process, are well-founded concerns. Unresolved in South Africa, is how to manage incidental findings of potential health, reproductive, environmental and medicinal risk that are of particular importance to individual contributors. With a proposal for a national biobank in South Africa, it is apparent that researchers as well as clinicians are anticipated to access data from biobanks and to this end, laws, clear public guidance and regulations on the handling of incidental findings are indispensable.

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Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection

Genetics in Medicine ◽

10.1038/s41436-021-01183-0 ◽

2021 ◽

Author(s):

Wendy K. Chung ◽

Kyle Brothers ◽

Angela Bradbury ◽

Sirisak Chanprasert ◽

Lori Orlando ◽

...

Keyword(s):

Data Collection ◽

Working Group ◽

Social Issues ◽

Genomic Medicine ◽

Steering Committee ◽

Genomic Research ◽

Return Of Results ◽

Standard Data ◽

New Research ◽

Research Domain

Abstract Purpose The PhenX Toolkit (www.phenxtoolkit.org), an online catalog of recommended measurement protocols, facilitates cross-study analyses for research with human participants. The PhenX Steering Committee recommended genomic medicine implementation as a new research domain, with the following scope: genomic knowledge and education (both patients and providers); implementation science; changes in management and treatment; return of results; patient outcomes; and ethical, legal, and social issues (ELSI) associated with genomic research. Methods A seven-member expert Working Group convened in October 2019 to identify well-established measurement protocols for a new genomic medicine implementation domain and used the established PhenX consensus process to select measurement protocols for inclusion in the PhenX Toolkit. Results The Working Group recommended 15 measurement protocols for inclusion in the PhenX Toolkit, with priority given to those with empirical evidence supporting validity. Consortia funded by the National Institutes of Health, and particularly the National Human Genome Research Institute, proved critical in identifying protocols with established utility in this research domain, and identified protocols that were developed through a rigorous process for scope elements that lacked formally validated protocols. Conclusion Use of these protocols, which were released in September 2020, can facilitate standard data collection for genomic medicine implementation research.

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

The Journal of Law Medicine & Ethics ◽

10.1177/1073110518766024 ◽

2018 ◽

Vol 46 (1) ◽

pp. 87-109 ◽

Cited By ~ 8

Author(s):

Susan M. Wolf ◽

Emily Scholtes ◽

Barbara A. Koenig ◽

Gloria M. Petersen ◽

Susan A. Berry ◽

...

Keyword(s):

Pediatric Research ◽

Genomic Research ◽

Return Of Results ◽

Exploratory Research ◽

Clinical Sequencing ◽

Research Results ◽

Participant Preferences ◽

Author Group ◽

Flow Charts

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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Views on genomic research result delivery methods and informed consent: a review

Personalized Medicine ◽

10.2217/pme-2020-0139 ◽

2021 ◽

Author(s):

Danya F Vears ◽

Joel T Minion ◽

Stephanie J Roberts ◽

James Cummings ◽

Mavis Machirori ◽

...

Keyword(s):

Informed Consent ◽

Research Result ◽

Genomic Research ◽

Return Of Results ◽

Empirical Literature ◽

Delivery Methods ◽

Web Based ◽

Face To Face ◽

The Public ◽

Stakeholder Perspectives

There has been little discussion of the way genomic research results should be returned and how to obtain informed consent for this. We systematically searched the empirical literature, identifying 63 articles exploring stakeholder perspectives on processes for obtaining informed consent about return of results and/or result delivery. Participants, patients and members of the public generally felt they should choose which results are returned to them and how, ranging from direct (face-to-face, telephone) to indirect (letters, emails, web-based delivery) communication. Professionals identified inadequacies in result delivery processes in the research context. Our findings have important implications for ensuring participants are supported in deciding which results they wish to receive or, if no choice is offered, preparing them for potential research outcomes.

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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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Public Health Genomics, Biobanking, and Ethics

The Oxford Handbook of Public Health Ethics ◽

10.1093/oxfordhb/9780190245191.013.57 ◽

2019 ◽

pp. 663-677

Author(s):

Karen M. Meagher ◽

R. Jean Cadigan ◽

Gail E. Henderson ◽

Eric Juengst

Keyword(s):

Public Health ◽

Health Care Quality ◽

Large Scale ◽

Population Based ◽

Care Quality ◽

Health Interventions ◽

Genomic Research ◽

Return Of Results ◽

Public Health Genomics ◽

Health Care Quality Improvement

As large-scale biobanks are developed for translational genomic research and health care quality improvement, they are also becoming attractive as sites for public health interventions, such as population-based preventive sequencing for actionable variants. With the rapid advance of next-generation sequencing, the feasibility of such population health interventions is also increasing. The resulting confluence of public health norms, fiduciary clinical obligations, and ethical expectations for research creates a number of challenges. This chapter on public health genomics examines three examples of projects facing such challenges, in order to anticipate the ethical and policy issues that public health uses of research biobanks raise for those responsible for their design and governance. The chapter looks at issues of informed consent, return of results, and community engagement.

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