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.

Patient recommendations for content and design for electronic return of genetic test results: An interview study among patients who accessed their genetic test results online (Preprint)

2021 ◽  
Author(s):  
Diane M Korngiebel ◽  
Kathleen McGlone West
Keyword(s):  
Patient Preferences ◽  
Genetic Test ◽  
Smartphone Application ◽  
Patient Portal ◽  
Genetic Test Result ◽  
Test Results ◽  
User Centered Design ◽  
Detailed Report ◽  
Genetic Test Results ◽  
Test Result

BACKGROUND Genetic test results will be increasingly made available electronically as more patient-facing tools are developed; however, little research has been done that collects patient preferences for content and design before creating results templates. OBJECTIVE This study identifies patient preferences for electronic return of genetic test results, including what considerations should be prioritized for content and design. METHODS Following User-Centered Design methods, 59 interviews were conducted using semi-structured protocols. The interviews explored content and design issues for patient portal results return for patients who received electronic results for specific types of genetic tests (pharmacogenomic, hereditary blood disorders, and positive and negative risk results for heritable cancers) or who had electronically received any type of genetic test result as well as a non-genetic test result. RESULTS In general, a majority of participants felt that there always needed to be some clinician involvement in electronic results return and that electronic coversheets with simple summaries would be helpful for facilitating that. Coversheet summaries could accompany, but not replace, the more detailed report. Participants had specific suggestions for those results summaries, such as only reporting the information that was most important for patients to understand, including next steps, and to do so using clear language free of medical jargon. Electronic results return should also include explicit encouragement for patients to contact providers with questions. Finally, many participants preferred to manage their care using their smartphones, particularly in instances where they needed to access health information on the go. CONCLUSIONS Participants recommended that a patient-friendly front section accompany the more detailed report and made suggestions for organization, content, and wording. Many used their smartphones regularly to access test results, therefore, health systems and patient portal software vendors should accommodate smartphone application design and web portal design concomitantly when developing results return platforms. CLINICALTRIAL N/A

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.

Return of Research-Related Genetic Test Results and Genetic Discrimination Concerns: Facilitators and Barriers of Genetic Research Participation in Diverse Groups

2020 ◽  
Vol 23 (1-2) ◽  
pp. 59-68
Author(s):  
Andrea N. Burnett-Hartman ◽  
Erica Blum-Barnett ◽  
Nikki M. Carroll ◽  
Sarah D. Madrid ◽  
Cabell Jonas ◽  
...  
Keyword(s):  
Genetic Test ◽  
Genetic Research ◽  
Research Participation ◽  
Genetic Discrimination ◽  
Test Results ◽  
Genetic Test Results ◽  
Facilitators And Barriers ◽  
Diverse Groups

Return of Research Results: General Principles and International Perspectives

2011 ◽  
Vol 39 (4) ◽  
pp. 583-592 ◽  
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.

scholarly journals Study protocol: the Australian genetics and life insurance moratorium—monitoring the effectiveness and response (A-GLIMMER) project

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Jane Tiller ◽  
Aideen McInerney-Leo ◽  
Andrea Belcher ◽  
Tiffany Boughtwood ◽  
Penny Gleeson ◽  
...  
Keyword(s):  
Life Insurance ◽  
Financial Services ◽  
Genetic Test ◽  
Insurance Industry ◽  
Genetic Research ◽  
Evaluation Framework ◽  
Test Results ◽  
Financial Industry ◽  
Genetic Test Results ◽  
The Impact

Abstract Background The use of genetic test results in risk-rated insurance is a significant concern internationally, with many countries banning or restricting the use of genetic test results in underwriting. In Australia, life insurers’ use of genetic test results is legal and self-regulated by the insurance industry (Financial Services Council (FSC)). In 2018, an Australian Parliamentary Inquiry recommended that insurers’ use of genetic test results in underwriting should be prohibited. In 2019, the FSC introduced an industry self-regulated moratorium on the use of genetic test results. In the absence of government oversight, it is critical that the impact, effectiveness and appropriateness of the moratorium is monitored. Here we describe the protocol of our government-funded research project, which will serve that critical function between 2020 and 2023. Methods A realist evaluation framework was developed for the project, using a context-mechanism-outcome (CMO) approach, to systematically assess the impact of the moratorium for a range of stakeholders. Outcomes which need to be achieved for the moratorium to accomplish its intended aims were identified, and specific data collection measures methods were developed to gather the evidence from relevant stakeholder groups (consumers, health professionals, financial industry and genetic research community) to determine if aims are achieved. Results from each arm of the study will be analysed and published in peer-reviewed journals as they become available. Discussion The A-GLIMMER project will provide essential monitoring of the impact and effectiveness of the self-regulated insurance moratorium. On completion of the study (3 years) a Stakeholder Report will be compiled. The Stakeholder Report will synthesise the evidence gathered in each arm of the study and use the CMO framework to evaluate the extent to which each of the outcomes have been achieved, and make evidence-based recommendations to the Australian federal government, life insurance industry and other stakeholders.

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.

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

Genome ◽  
2015 ◽  
Vol 58 (12) ◽  
pp. 541-548 ◽  
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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