A framework for tiered informed consent for health genomic research in Africa

2 December 201920 January 2020 ~ paigefitzsimmons ~ Leave a comment

A framework for tiered informed consent for health genomic research in Africa
Victoria Nembaware, Katherine Johnston, Alpha A. Diallo, Maritha J. Kotze, Alice Matimba, Keymanthri Moodley, Godfrey B. Tangwa, Rispah Torrorey-Sawe, Nicki Tiffin
Nature Genetics, 28 October 2019; 51 pp 1566–1571
Abstract
A generic framework for providing participant information and implementing a tiered consent process for health genomic research in Africa can help to harness global health benefits from sharing and meta-analysis of African genomic data while simultaneously respecting and upholding the autonomy and individual choices of African research participants.

Informed Consent in the Genomics Era

1 November 201917 January 2020 ~ paigefitzsimmons ~ Leave a comment

Informed Consent in the Genomics Era
Shannon Rego, Megan E. Grove, Mildred K. Cho, Kelly E. Ormond
Cold Spring Harbor Perspectives in Medicine, 30 September 2019
Abstract
Informed consent, the process of gathering autonomous authorization for a medical intervention or medical research participation, is a fundamental component of medical practice. Medical informed consent assumes decision-making capacity, voluntariness, comprehension, and adequate information. The increasing use of genetic testing, particularly genomic sequencing, in clinical and research settings has presented many new challenges for clinicians and researchers when obtaining informed consent. Many of these challenges revolve around the need for patient comprehension of sufficient information. Genomic sequencing is complex—all of the possible results are too numerous to explain, and many of the risks and benefits remain unknown. Thus, historical standards of consent are difficult to apply. Alternative models of consent have been proposed to increase patient understanding, and several have empirically demonstrated effectiveness. However, there is still a striking lack of consensus in the genetics community about what constitutes informed consent in the context of genomic sequencing. Multiple approaches are needed to address this challenge, including consensus building around standards, targeted use of genetic counselors in nongenetics clinics in which genomic testing is ordered, and the development and testing of alternative models for obtaining informed consent.

Prioritising African perspectives in Psychiatric Genomics Research: issues of translation and informed consent

1 November 201917 January 2020 ~ paigefitzsimmons ~ Leave a comment

Prioritising African perspectives in Psychiatric Genomics Research: issues of translation and informed consent
Kamaara, Camillia Kong, M. Campbell
Developing World Bioethics, 9 October 2019
Abstract
Psychiatric genomics research with African populations comes with a range of practical challenges around translation of psychiatric genomics research concepts, procedures, and nosology. These challenges raise deep ethical issues particularly around legitimacy of informed consent, a core foundation of research ethics. Through a consideration of the constitutive function of language, the paper problematises like-for-like, designative translations which often involve the ‘indigenization’ of English terms or use of metaphors which misrepresent the risks and benefits of research. This paper argues that effective translation of psychiatric genomics research terminology in African contexts demands substantive engagement with African conceptual schemas and values. In developing attenuated forms of translational thinking, researchers may recognise the deeper motivational reasons behind participation in research, highlighting the possibility that such reasons may depart from the original meaning implied within informed consent forms. These translational issues might be ameliorated with a critical re-examination of how researchers develop and present protocols to institutional ethics review boards.

Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?

1 November 201917 January 2020 ~ paigefitzsimmons ~ Leave a comment

Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?
Post Script Letter
Katrina Andrews, Matina Prapa, Elizabeth Radford, Ingrid Simonic, Simon Holden, Gusztav Belteki
Archives of Disease in Childhood, 28 September 2019
Excerpt
Microarrays are increasingly requested as a first-line genetic investigation for chromosome anomalies in the neonatal population. Consent is usually taken by paediatricians, frequently trainees, often without specific training in how to consent for genetic tests. Unlike in the paediatric population,1 there are no consensus guidelines on the indications for neonatal microarray testing. Our local guideline recommends microarray testing in babies with multiple congenital anomalies or ambiguous genitalia. However, studies have also suggested the utility of microarray testing in congenital heart disease2 and intrauterine growth restriction (IUGR) without congenital anomalies.3

Informed genetic consent needs to cover prognostication (most pathogenic copy number variants (CNVs) are associated with a significant risk of learning disability); potential implications for family members; incidental findings and the risk of identifying variants of uncertain significance (VUS)…

Patient Preferences for Use of Archived Biospecimens from Oncology Trials When Adequacy of Informed Consent Is Unclear

2 October 201917 January 2020 ~ paigefitzsimmons ~ Leave a comment

Patient Preferences for Use of Archived Biospecimens from Oncology Trials When Adequacy of Informed Consent Is Unclear
Jeffrey Peppercorn, Eric Campbell , Steve Isakoff, Nora K. Horick, Julia Rabin, Katharine Quain, Lecia V. Sequist, Aditya Bardia, Deborah Collyar, Fay Hlubocky, Debra Mathews
The Oncologist, 6 September 2019
Abstract
Background
Oncology research increasingly involves biospecimen collection and data sharing. Ethical challenges emerge when researchers seek to use archived biospecimens for purposes that were not well defined in the original informed consent document (ICD). We sought to inform ongoing policy debates by assessing patient views on these issues.
Materials and Methods
We administered a cross‐sectional self‐administered survey to patients with cancer at an academic medical center. Survey questions addressed attitudes toward cancer research, willingness to donate biospecimens, expectations regarding use of biospecimens, and preferences regarding specific ethical dilemmas.
Results
Among 240 participants (response rate 69%), virtually all (94%) indicated willingness to donate tissue for research. Most participants (86%) expected that donated tissue would be used for any research deemed scientifically important, and virtually all (94%) expected that the privacy of their health information would be protected. Broad use of stored biospecimens and data sharing with other researchers increased willingness to donate tissue. For three scenarios in which specific consent for proposed biobank research was unclear within the ICD, a majority of patient’s favored allowing the research to proceed: 76% to study a different cancer, 88% to study both inherited (germline) and tumor specific (somatic) mutations, and 70% to permit data sharing. A substantial minority believed that research using stored biospecimens should only proceed with specific consent.
Conclusion
When debates arise over appropriate use of archived biospecimens, the interests of the research participants in seeing productive use of their blood or tissue should be considered, in addition to addressing concerns about potential risks and lack of specific consent.
Implications for Practice
This survey evaluated views of patients with cancer regarding the permissible use of stored biospecimens from cancer trials when modern scientific methods are not well described in the original informed consent document. The vast majority of patients support translational research and expect that any biospecimens they donate will be used to advance knowledge. When researchers, policy makers, and those charged with research oversight debate use of stored biospecimens, it is important to recognize that research participants have an interest in productive use of their blood, tissue, or data, in addition to considerations of risks and the adequacy of documented consent.

Editor’s note: The Oncologist is the official journal of the Society for Translational Oncology.

Biobanks in the Era of Genomic Data

2 October 201917 January 2020 ~ paigefitzsimmons ~ Leave a comment

Biobanks in the Era of Genomic Data
Juliann Savatt, Cassandra J. Pisieczko, Yanfei Zhang, Ming Ta Michael Lee, W. Andrew Faucett, Janet L. Williams
Current Genetic Medicine Reports, 30 August 2019 7(3) pp 153-161
Abstract
Purpose of Review
Biobank research brings together participants, their samples and data, and researchers to provide a productive and efficient resource that advances discovery, prevention, diagnosis, and treatment. This mini-review addresses the importance of governance issues regarding consent, privacy and confidentiality, data sharing, and return of results in biobanks that utilize genomic sequencing data.
Recent Findings
With the availability of genomic sequencing data, there is renewed attention to the value of biobank research. Governance components of consent, data sharing, privacy protections, and disclosure of research results vary widely among biobanks currently established. There is no consensus standard of best practice for managing genomic data regardless of the biobank infrastructure.
Summary
Understanding the various biobank research program components will aid genetics providers and other healthcare providers as they interact with biobank researchers and participants. Governance structures for biobanks will need to be informed by the engagement of participants, researchers, and regulatory agencies. Education concerning the importance of biobank research, transparency of governance structure, and the relationship of genomic data to the improvement of individual health is critical to support continued biobank research.

Attitudes Regarding Enrollment in a Genetic Research Project: An Informed Consent Simulation Study Comparing Views of People With Depression, Diabetes, and Neither Condition

2 October 201917 January 2020 ~ paigefitzsimmons ~ Leave a comment

Attitudes Regarding Enrollment in a Genetic Research Project: An Informed Consent Simulation Study Comparing Views of People With Depression, Diabetes, and Neither Condition
Research Article
Jane Paik Kim, Katie Ryan, Laura Weiss Roberts
Journal of Empirical Research on Human Research Ethics, 22 July 2019; 14(4)
Abstract
In this study, participants with a self-reported history of depression, diabetes, or no illness underwent a simulated informed consent process for a hypothetical genetic study related to depression or diabetes. Participants completed a survey assessing their perceived understanding of the research process, perceptions of its risks and benefits, their satisfaction with the informed consent process, and their readiness to make a hypothetical enrollment decision. All participants indicated strong readiness to make an enrollment decision regarding the research characterized in the simulation. Participants reported understanding the consent process relatively well and being generally satisfied with it. Greater concerns were expressed regarding psychosocial risks than biological risks for genetic studies on mental disorders. Our study documented positive attitudes toward volunteering for research that involved the collection of genetic data.

Overvaluing individual consent ignores risks to tribal participants

2 October 201917 January 2020 ~ paigefitzsimmons ~ Leave a comment

Overvaluing individual consent ignores risks to tribal participants
Comment
Krystal S. Tsosie, Joseph M. Yracheta, Donna Dickenson
Nature Reviews Genetics, 15 July 2019; 20 pp 497–498
Excerpt
Genomic studies often rely on individual-based consent approaches for tribal members residing outside of their communities. This consent model fails to acknowledge the risks to small groups such as tribes, which can implicate the community as a whole…

Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium

2 August 201914 January 2020 ~ paigefitzsimmons ~ Leave a comment

Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium
Yu JH, Appelbaum PS, Brothers KB, Joffe S, Kauffman TL, Koenig BA, Prince AE, Scollon S, Wolf SM, Bernhardt BA, Wilfond BS
Personalized Medicine, 17 Jul 2019
Abstract
Implementing genome and exome sequencing in clinical practice presents challenges, including obtaining meaningful informed consent. Consent may be challenging due to test limitations such as uncertainties associated with test results and interpretation, complexity created by the potential for additional findings and high patient expectations. We drew on the experiences of research teams within the Clinical Sequencing Exploratory Research (CSER1) Consortium on informed consent for clinical genome and exome sequencing (CGES) to negotiate consensus considerations. We present six considerations for clinicians and 12 key points to communicate as they support patients in deciding whether to undergo CGES. These considerations and key points provide a helpful starting point for informed consent to CGES, grounded in the Clinical Sequencing Exploratory Research (CSER1) experience.