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

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.

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Ethical Issues in Genetic Research with Infants

Ethics and Research with Children ◽

10.1093/med-psych/9780190647254.003.0009 ◽

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.

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

Journal of Empirical Research on Human Research Ethics ◽

10.1177/15562646211043985 ◽

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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Ethical issues in human genomics research in developing countries

BMC Medical Ethics ◽

10.1186/1472-6939-12-5 ◽

2011 ◽

Vol 12 (1) ◽

Cited By ~ 82

Author(s):

Jantina de Vries ◽

Susan J Bull ◽

Ogobara Doumbo ◽

Muntaser Ibrahim ◽

Odile Mercereau-Puijalon ◽

...

Keyword(s):

Developing Countries ◽

Ethical Issues ◽

Human Genomics ◽

Genomics Research

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Ethical Issues in Genetic Testing and Screening in Children

10.1093/med/9780199354474.003.0005 ◽

2016 ◽

Author(s):

Alan R. Fleischman

Keyword(s):

Genetic Testing ◽

Ethical Issues ◽

Single Gene ◽

Genetic Research ◽

Clinical Tool ◽

Individual Gene ◽

Ethical Concerns ◽

Single Gene Disorders ◽

Research Findings ◽

The Many

This chapter describes genetic testing and screening in children and presents the many ethical issues associated with these practices. It examines the unique ethical concerns in genetic testing in children with particular emphasis on screening for adult-onset diseases, newborn screening, and whole exome or genome testing. Whole genome testing is now available as a clinical tool for patients with undefined disorders, and has also been offered directly to the public as a way of exploring risk of future disease. In the first decades of the 21st century the ability to examine single-gene disorders has exploded as technology has allowed for more rapid and less expensive analysis of individual gene loci. The chapter also deals with ethical concerns in genetic research, biobanking, and revealing research findings to patients and families.

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Preferences and Expectations of Feedback of Individual Genetic Research Results in African Genomics: Views of South African Parents of Children With Neurodevelopmental Conditions

10.21203/rs.3.rs-107280/v1 ◽

2020 ◽

Author(s):

Olivia Precious Matshabane ◽

Cleo A Albertus ◽

Marlyn C Faure ◽

Dimpho Ralefala ◽

Kirsten A Donald ◽

...

Keyword(s):

South African ◽

Genetic Research ◽

Focus Group Discussions ◽

Group Discussions ◽

Research Results ◽

Lifestyle Choices ◽

Genomics Research ◽

Psychological Harm ◽

To Receive ◽

Genetic Results

Abstract BackgroundGenomic medicine is expanding at an exponential pace across the globe and increased access to genome analysis has led to greater generations of genetic results with specific relevance to individuals. AimThis study aims to explore preferences and expectations of feedback of individual genetic research results among parents of children with neurodevelopmental conditions. MethodsFollowing a qualitative approach, we conducted four deliberative focus group discussions with (n=27) South African parents of children involved in genomics research on neurodevelopmental conditions. ResultsMost participants expressed a strong interest in receiving individual genetic results regardless of severity, actionability and preventability. These results were viewed as valuable because they could empower or emancipate individuals, families and communities. Receiving risk information was also believed to motivate healthier lifestyle choices. However, some participants were uncertain or articulated a desire not to receive results due to fears of anxiety or psychological harm. In addition, participants expected to receive results as a demonstration of respect from researchers and articulated it as an act to build trust between researchers and participants. ConclusionsInternationally, a debate continues around whether individual genetic results should or should not be fed back to participants of research studies. In Africa, there is scant literature which has investigated this question and no policies to guide researchers. This study provides a basis of empirical data on perspectives of African participants which could inform work on the development of a consolidated approach to the feedback of incidental findings in the continent.

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

The Journal of Law Medicine & Ethics ◽

10.1111/jlme.12293 ◽

2015 ◽

Vol 43 (3) ◽

pp. 514-522 ◽

Cited By ~ 1

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.

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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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Advancing precision public health using human genomics: examples from the field and future research opportunities

Genome Medicine ◽

10.1186/s13073-021-00911-0 ◽

2021 ◽

Vol 13 (1) ◽

Author(s):

Megan C. Roberts ◽

Alison E. Fohner ◽

Latrice Landry ◽

Dana Lee Olstad ◽

Amelia K. Smit ◽

...

Keyword(s):

Public Health ◽

Precision Medicine ◽

Behavioral Science ◽

Public Health Research ◽

Future Research ◽

Human Genomics ◽

Precision Public Health ◽

Genomics Research ◽

Health Initiatives ◽

Public Health Initiatives

AbstractPrecision public health is a relatively new field that integrates components of precision medicine, such as human genomics research, with public health concepts to help improve population health. Despite interest in advancing precision public health initiatives using human genomics research, current and future opportunities in this emerging field remain largely undescribed. To that end, we provide examples of promising opportunities and current applications of genomics research within precision public health and outline future directions within five major domains of public health: biostatistics, environmental health, epidemiology, health policy and health services, and social and behavioral science. To further extend applications of genomics within precision public health research, three key cross-cutting challenges will need to be addressed: developing policies that implement precision public health initiatives at multiple levels, improving data integration and developing more rigorous methodologies, and incorporating initiatives that address health equity. Realizing the potential to better integrate human genomics within precision public health will require transdisciplinary efforts that leverage the strengths of both precision medicine and public health.

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Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records

Applied Clinical Informatics ◽

10.1055/s-0040-1718753 ◽

2020 ◽

Vol 11 (05) ◽

pp. 755-763

Author(s):

Shibani Kanungo ◽

Jayne Barr ◽

Parker Crutchfield ◽

Casey Fealko ◽

Neelkamal Soares

Keyword(s):

Genetic Testing ◽

Best Practices ◽

Health Care Providers ◽

Genetic Information ◽

Ethical Issues ◽

Interdisciplinary Approach ◽

Care Providers ◽

Ethical Considerations ◽

Electronic Health ◽

Genetic Results

Abstract Background Advances in technology and access to expanded genetic testing have resulted in more children and adolescents receiving genetic testing for diagnostic and prognostic purposes. With increased adoption of the electronic health record (EHR), genetic testing is increasingly resulted in the EHR. However, this leads to challenges in both storage and disclosure of genetic results, particularly when parental results are combined with child genetic results. Privacy and Ethical Considerations Accidental disclosure and erroneous documentation of genetic results can occur due to the nature of their presentation in the EHR and documentation processes by clinicians. Genetic information is both sensitive and identifying, and requires a considered approach to both timing and extent of disclosure to families and access to clinicians. Methods This article uses an interdisciplinary approach to explore ethical issues surrounding privacy, confidentiality of genetic data, and access to genetic results by health care providers and family members, and provides suggestions in a stakeholder format for best practices on this topic for clinicians and informaticians. Suggestions are made for clinicians on documenting and accessing genetic information in the EHR, and on collaborating with genetics specialists and disclosure of genetic results to families. Additional considerations for families including ethics around results of adolescents and special scenarios for blended families and foster minors are also provided. Finally, administrators and informaticians are provided best practices on both institutional processes and EHR architecture, including security and access control, with emphasis on the minimum necessary paradigm and parent/patient engagement and control of the use and disclosure of data. Conclusion The authors hope that these best practices energize specialty societies to craft practice guidelines on genetic information management in the EHR with interdisciplinary input that addresses all stakeholder needs.

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How to manage large-scale collaborative genomics research projects?

European Journal of Human Genetics ◽

10.1038/ejhg.2017.19 ◽

2017 ◽

Vol 25 (5) ◽

pp. 656-656

Author(s):

Erinija Pranckevičienė ◽

Vaidutis Kučinskas

Keyword(s):

Large Scale ◽

Research Projects ◽

Genomics Research

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