scholarly journals Canadian Research Ethics Board Leadership Attitudes to the Return of Genetic Research Results to Individuals and Their Families

2015 ◽  
Vol 43 (3) ◽  
pp. 514-522 ◽  
Author(s):  
Conrad V. Fernandez ◽  
P. Pearl O'Rourke ◽  
Laura M. Beskow
Keyword(s):  
Ethical Issues ◽  
Genetic Research ◽  
Research Participant ◽  
Genomic Research ◽  
Next Of Kin ◽  
Potential Health ◽  
Clinical Model ◽  
Research Results ◽  
Consensus Statements ◽  
Genetic Results

The return of individual genetic results to research participants has been widely discussed in the context of an explosion of genetic research utilizing an ever more rapid and inexpensive array of sequencing and bioinformatics platforms. To date, a number of consensus statements guide researchers as to the breadth and limits of their obligations for offering genomic research results to participants. Typically these recommendations are rooted in the result’s clinical validity, actionability, and potential health consequences, and are predicated on the informed consent of the participant. An emerging discussion is the challenging question of the degree to which researchers may additionally have responsibility for offering results to family members of the research participant. Some have argued that ethical obligations to relatives intensify as the significance and actionability of the result increase, while others claim that obligations to next of kin should follow the clinical model where the decision to share genetic results falls to the patient. A detailed reflection on the many ethical issues that arise in considering whether such a responsibility exists, and if so how to honor it, is presented in this issue of JLME by Wolf et al.

scholarly journals Preferences regarding Return of Genomic Results to Relatives of Research Participants, Including after Participant Death: Empirical Results from a Cancer Biobank

2015 ◽  
Vol 43 (3) ◽  
pp. 464-475 ◽  
Author(s):  
Carmen Radecki Breitkopf ◽  
Gloria M. Petersen ◽  
Susan M. Wolf ◽  
Kari G. Chaffee ◽  
Marguerite E. Robinson ◽  
...  
Keyword(s):  
Incidental Findings ◽  
Genetic Research ◽  
Research Participant ◽  
Potential Health ◽  
Research Results ◽  
Health Significance ◽  
Genomic Results ◽  
Individual Research Results ◽  
The Individual ◽  
Archive Data

Biobank data and samples frequently endure beyond the life of the individual who provided the sample; this is particularly true for biorepositories that archive data and samples from cancer patients. Those data and samples may be used for research, including after the death of the individual. When the research produces genetic research results (a term used here to include incidental findings and individual research results) that have potential health or reproductive importance for the individual who provided the sample, the results may also have importance for blood relatives. This raises the question of whether the research results should be shared with relatives, at their request or at the initiative of the researchers. The issues are complex even when the research participant is alive, but are particularly challenging after the death of the individual whose data and sample are archived, as the individual may not have been asked their preferences about sharing with family, including after death. Even if the individual’s preferences on sharing have been elicited, investigators and biobank directors may be concerned about withholding genetic research results from relatives that are of potential health significance.

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

ACI Open ◽  
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.

Ethical Issues in Genetic Research with Infants

2018 ◽  
pp. 155-171
Author(s):  
Erin Rothwell ◽  
Jeffrey R. Botkin
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Ethical Issues ◽  
Genetic Research ◽  
Newborn Health ◽  
Research Use ◽  
Whole Genome ◽  
Use Of Data ◽  
The Impact ◽  
Genetic Results

There are a number of ethical issues raised when newborns participate in research. Two examples include genetic testing, and the storage and research use of biospecimens collected from newborns. This chapter highlights a range of ethical, legal, and social implications with these practices. Examples from retention of residual newborn screening bloodspots, use of biospecimens collected from infants in biomedical research, concerns with the use of whole genome sequencing, and challenges of consent during the newborn period are discussed. These issues are explored within the context of newborns who are healthy or newborns faced with an undiagnosed condition. At this time, more research is needed to understand the impact of genomics on newborn health care, the storage and use of data generated from biospecimens, and how genetic results from newborns impact families. Further challenges around consent and parental permission are also discussed.

The Return of Results of Deceased Research Participants

2011 ◽  
Vol 39 (4) ◽  
pp. 621-630 ◽  
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.

scholarly journals Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series

2021 ◽  
Vol 11 (8) ◽  
pp. 755
Author(s):  
Iskra Peltekova ◽  
Daniela Buhas ◽  
Lara Stern ◽  
Emily Kirby ◽  
Afiqah Yusuf ◽  
...  
Keyword(s):  
Clinical Care ◽  
Genetic Research ◽  
Case Series ◽  
Routine Care ◽  
Autism Spectrum ◽  
Care Pathways ◽  
Research Results ◽  
Individualized Care ◽  
The Impact ◽  
Genetic Results

The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series (n = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD.

scholarly journals Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles

2015 ◽  
Vol 43 (3) ◽  
pp. 502-513 ◽  
Author(s):  
Laura M. Beskow ◽  
P. Pearl O'Rourke
Keyword(s):  
Genetic Information ◽  
Genetic Research ◽  
Family Members ◽  
Research Process ◽  
Secondary Users ◽  
Consent Forms ◽  
Research Results ◽  
Considerable Debate ◽  
The Subject ◽  
Genetic Results

Whether or not to offer individual genetic results to research participants has been the subject of considerable debate, yet consensus regarding what, when, and how to return remains elusive. Despite this lack of clarity, the discussion has moved to the offer of research results to family members of participants, including when the participant is deceased. Given the familial implications of genetic information, this extension is perhaps logical. But it raises concerns throughout the research process, including, for example, questions about disclosures and choices on consent forms, procedures for identifying and contacting family members, and how any such obligations might apply to secondary users of biospecimens and data.

scholarly journals Considerations for Returning Research Results to Culturally Diverse Participants and Families of Decedents

2015 ◽  
Vol 43 (3) ◽  
pp. 569-575
Author(s):  
Nanibaa' A. Garrison
Keyword(s):  
Culturally Diverse ◽  
Genomic Medicine ◽  
Research Participant ◽  
Genomic Research ◽  
Special Focus ◽  
Ethical Considerations ◽  
Research Results ◽  
Diverse Backgrounds ◽  
Considerable Debate ◽  
Genomic Results

As genomic medicine advances and immense amounts of data are generated that may potentially affect human health, there is increasing concern around which of these results matter to participants. There has been considerable debate on which research results to return to participants and when those results should be returned. To date, however, the debates around the return of genomic results have not focused on how those results should be returned, especially when the results come from minority and/or culturally diverse participants. This commentary explores cultural and ethical considerations, and shares insight from my own Navajo background, around returning genomic research results to participants and potentially to families of culturally diverse backgrounds, with a special focus on considerations when the research participant is deceased, and raises points for further discussion.

scholarly journals Guideline for feedback of individual genetic research findings for genomics research in Africa

2022 ◽  
Vol 7 (1) ◽  
pp. e007184
Author(s):  
Alice Matimba ◽  
Stuart Ali ◽  
Katherine Littler ◽  
Ebony Madden ◽  
Patricia Marshall ◽  
...  
Keyword(s):  
Ethical Issues ◽  
Genetic Research ◽  
Logical Framework ◽  
Research Projects ◽  
Human Genomics ◽  
Human Heredity ◽  
Genomics Research ◽  
Research Findings ◽  
Key Issues ◽  
Genetic Results

As human genomics research in Africa continues to generate large amounts of data, ethical issues arise regarding how actionable genetic information is shared with research participants. The Human Heredity and Health in Africa Consortium (H3Africa) Ethics and Community Engagement Working group acknowledged the need for such guidance, identified key issues and principles relevant to genomics research in Africa and developed a practical guideline for consideration of feeding back individual genetic results of health importance in African research projects. This included a decision flowchart, providing a logical framework to assist in decision-making and planning for human genomics research projects. Although presented in the context of the H3Africa Consortium, we believe the principles described, and the decision flowchart presented here is applicable more broadly in African genomics research.

scholarly journals Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions (Preprint)

2017 ◽  
Author(s):  
Sara Huston Katsanis ◽  
Mollie A Minear ◽  
Azita Sadeghpour ◽  
Heidi Cope ◽  
Yezmin Perilla ◽  
...  
Keyword(s):  
Genetic Information ◽  
Research Team ◽  
Research Study ◽  
Genetic Research ◽  
Genomic Research ◽  
Active Engagement ◽  
Medical Conditions ◽  
Relevant Research ◽  
Research Results ◽  
To Receive

BACKGROUND Unlike aggregate research on groups of participants with a particular disorder, genomic research on discrete families’ rare conditions could result in data of use to families, their healthcare, as well as generating knowledge on the human genome. OBJECTIVE In a study of families seeking to rule in/out genetic causes for their children’s medical conditions via exome sequencing, we solicited their views on the importance of genomic information. Our aim was to learn the interests of parents in seeking genomic research data and to gauge their responsiveness and engagement with the research team. METHODS At enrollment, we offered participants options in the consent form for receiving potentially clinically relevant research results. We also offered an option of being a “partner” versus a “traditional” participant; partners could be re-contacted for research and study activities. We invited adult partners to complete a pre-exome survey, attend annual family forums, and participate in other inter-family interaction opportunities. RESULTS Of the 385 adults enrolled, 79% opted for “partnership” with the research team. Nearly all (99.2%) participants opted to receive research results pertaining to their children’s primary conditions. A majority indicated the desire to receive additional clinically relevant outside the scope of their children’s conditions (92.7%) and an interest in non-clinically relevant genetic information (82.7%). CONCLUSIONS Most participants chose partnership, including its rights and potential burdens; however, active engagement in study activities remained the exception. Not surprisingly, the overwhelming majority of participants—both partners and traditional—expected to receive all genetic information resulting from the research study.

scholarly journals Participants’ Preferences and Reasons for Wanting Feedback of Individual Genetic Research Results From an HIV-TB Genomic Study: A Case Study From Botswana

2021 ◽  
Vol 16 (5) ◽  
pp. 525-536
Author(s):  
Dimpho Ralefala ◽  
Mary Kasule ◽  
Olivia P. Matshabane ◽  
Ambroise Wonkam ◽  
Mogomotsi Matshaba ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Ethical Issue ◽  
Genetic Research ◽  
Research Results ◽  
Genomic Study ◽  
Genomics Research ◽  
Almost All ◽  
To Receive ◽  
Genetic Results

The feedback of individual results of genomics research is an ethical issue. However, which genetic results African participants would like to receive and why, remains unclear. A qualitative study was conducted to collect data from 44 adolescents and 49 parents/caregivers of adolescents enrolled in a genomic study in Botswana. Almost all the participants wanted to receive genetic results. Parents and caregivers wanted to receive results across all categories of genetic conditions discussed in the study, while adolescents were reluctant to receive results for severe, non-preventable, and unactionable conditions. Participants expressed different reasons for wanting feedback of results, including for awareness, improving lifestyle, accepting one’ situation, and preparing for the future. Our findings also reveal that participants’ context, relations, and empowerment are important to consider in interpreting their preferences for feedback of results.

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