Informed Consent for Genetic and Genomic Research

Abstract Background Genomic research on neurodevelopmental disorders (NDDs), particularly involving minors, combines and amplifies existing research ethics issues for biomedical research. We performed a review of the literature on the ethical issues associated with genomic research involving children affected by NDDs as an aid to researchers to better anticipate and address ethical concerns. Results Qualitative thematic analysis of the included articles revealed themes in three main areas: research design and ethics review, inclusion of research participants, and communication of research results. Ethical issues known to be associated with genomic research in general, such as privacy risks and informed consent/assent, seem especially pressing for NDD participants because of their potentially decreased cognitive abilities, increased vulnerability, and stigma associated with mental health problems. Additionally, there are informational risks: learning genetic information about NDD may have psychological and social impact, not only for the research participant but also for family members. However, there are potential benefits associated with research participation, too: by enrolling in research, the participants may access genetic testing and thus increase their chances of receiving a (genetic) diagnosis for their neurodevelopmental symptoms, prognostic or predictive information about disease progression or the risk of concurrent future disorders. Based on the results of our review, we developed an ethics checklist for genomic research involving children affected by NDDs. Conclusions In setting up and designing genomic research efforts in NDD, researchers should partner with communities of persons with NDDs. Particular attention should be paid to preventing disproportional burdens of research participation of children with NDDs and their siblings, parents and other family members. Researchers should carefully tailor the information and informed consent procedures to avoid therapeutic and diagnostic misconception in NDD research. To better anticipate and address ethical issues in specific NDD studies, we suggest researchers to use the ethics checklist for genomic research involving children affected by NDDs presented in this paper.

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Rapid Ethical Appraisal: A tool to design a contextualized consent process for a genetic study of podoconiosis in Ethiopia

Wellcome Open Research ◽

10.12688/wellcomeopenres.12613.1 ◽

2017 ◽

Vol 2 ◽

pp. 99 ◽

Cited By ~ 1

Author(s):

Tewodros Tariku Gebresilase ◽

Zebene Deresse ◽

Girmay Tsegay ◽

Tesfaye Sisay Tessema ◽

Abraham Aseffa ◽

...

Keyword(s):

Informed Consent ◽

Genetic Study ◽

Research Process ◽

Genomic Research ◽

Community Members ◽

Factors Affecting ◽

Institutional Review ◽

Field Workers ◽

And Gender ◽

Healthy Community

Background: Obtaining genuine informed consent from research participants in developing countries can be difficult, partly due to poor knowledge about research process and research ethics. The situation is complicated when conducting genomic research on a disease considered familial and a reason for stigmatisation. Methods: We used a Rapid Ethical Appraisal tool to assess local factors that were barriers to getting genuine informed consent prior to conducting a genetic study of podoconiosis (non-filarial elephantiasis) in two Zones of Ethiopia. The tool included in-depth interviews and focus group discussions with patients, healthy community members, field workers, researchers/Institutional Review Board (IRB) members, elders, religious leaders, and podoconiosis administrators who work closely with patients. Results: Most patients and healthy community members did not differentiate research from routine clinical diagnosis. Participants felt comfortable when approached in the presence of trusted community members. Field workers and podoconiosis administrators preferred verbal consent, whereas the majority of patients and healthy community members prefer both verbal and written consent. Participants better understood genetic susceptibility concepts when analogies drawn from their day-to-day experience were used. The type of biological sample sought and gender were the two most important factors affecting the recruitment process. Most researchers and IRB members indicated that reporting incidental findings to participants is not a priority in an Ethiopian context. Conclusions: Understanding the concerns of local people in areas where research is to be conducted facilitates the design of contextualized consent processes appropriate for all parties and will ultimately result in getting genuine consent.

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Researchers’ views on informed consent for return of secondary results in genomic research

Genetics in Medicine ◽

10.1038/gim.2014.163 ◽

2014 ◽

Vol 17 (8) ◽

pp. 644-650 ◽

Cited By ~ 8

Author(s):

Paul S. Appelbaum ◽

Abby Fyer ◽

Robert L. Klitzman ◽

Josue Martinez ◽

Erik Parens ◽

...

Keyword(s):

Informed Consent ◽

Genomic Research ◽

Secondary Results

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The preferences of potential stakeholders in psychiatric genomic research regarding consent procedures and information delivery

European Psychiatry ◽

10.1016/j.eurpsy.2018.09.005 ◽

2019 ◽

Vol 55 ◽

pp. 29-35 ◽

Cited By ~ 2

Author(s):

Anna Sundby ◽

Merete Watt Boolsen ◽

Kristoffer Sølvsten Burgdorf ◽

Henrik Ullum ◽

Thomas Folkmann Hansen ◽

...

Keyword(s):

Informed Consent ◽

Incidental Findings ◽

Genetic Research ◽

Genomic Research ◽

Research Subjects ◽

Cross Sectional ◽

Telephone Consultation ◽

Active Involvement ◽

Consent Procedure ◽

To Receive

AbstractBackground:Genomic sequencing plays an increasing role in genetic research, also in psychiatry. This raises challenges concerning the validity and type of the informed consent and the return of incidental findings. However, no solution currently exists on the best way to obtain the informed consent and deliver findings to research subjects.Aims:This study aims to explore the attitudes among potential stakeholders in psychiatric genomic research toward the consenting procedure and the delivery of incidental findings.Methods:We developed a cross-sectional web-based survey among five groups of stakeholders. A total of 2637 stakeholders responded: 241 persons with a mental disorder, 671 relatives, 1623 blood donors, 74 psychiatrists, and 28 clinical geneticists.Results:The stakeholders wanted active involvement as 92.7% preferred a specific consent and 85.1% wanted to receive information through a dynamic consent procedure. The majority of stakeholders preferred to receive genomic information related to serious or life-threatening health conditions through direct contact (69.5%) with a health professional, i.e. face-to-face consultation or telephone consultation (82.4%). Persons with mental disorders and relatives did not differ in their attitudes from the other stakeholder groups.Conclusion:The findings illustrate that the stakeholders want to be more actively involved and consider consent as a reciprocal transaction between the involved subjects and the researchers in the project. The results highlight the importance of collaboration between researchers and clinical geneticists as the latter are trained, through their education and clinical experience, to return and explain genomic data to patients, relatives, and research subjects.

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Informed consent for return of incidental findings in genomic research

Genetics in Medicine ◽

10.1038/gim.2013.145 ◽

2013 ◽

Vol 16 (5) ◽

pp. 367-373 ◽

Cited By ~ 42

Author(s):

Paul S. Appelbaum ◽

Cameron R. Waldman ◽

Abby Fyer ◽

Robert Klitzman ◽

Erik Parens ◽

...

Keyword(s):

Informed Consent ◽

Incidental Findings ◽

Genomic Research

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How cancer patients and oncologist assess data-sharing and the risk of re-identification in genomic research? Ethical implications for informed consent and governance.

Journal of Clinical Oncology ◽

10.1200/jco.2016.34.15_suppl.e18186 ◽

2016 ◽

Vol 34 (15_suppl) ◽

pp. e18186-e18186

Author(s):

Eva Caroline Winkler ◽

Sebastian Schleidgen ◽

Christoph Schickhardt ◽

Christof V. Kalle ◽

Dominik Ose ◽

...

Keyword(s):

Informed Consent ◽

Cancer Patients ◽

Data Sharing ◽

Genomic Research ◽

Ethical Implications

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Critical social theory approach to disclosure of genomic incidental findings

Nursing Ethics ◽

10.1177/0969733011433924 ◽

2012 ◽

Vol 19 (6) ◽

pp. 819-828 ◽

Cited By ~ 4

Author(s):

Jeffrey L Bevan ◽

Julia N Senn-Reeves ◽

Ben R Inventor ◽

Shawna M Greiner ◽

Karen M Mayer ◽

...

Keyword(s):

Informed Consent ◽

Social Theory ◽

Incidental Findings ◽

Critical Social Theory ◽

Genomic Research ◽

Theory Approach ◽

Nursing Research ◽

Related Information ◽

Health Related ◽

Critical Social

Technology has expanded genomic research and the complexity of extracted gene-related information. Health-related genomic incidental findings pose new dilemmas for nurse researchers regarding the ethical application of disclosure to participants. Consequently, informed consent specific to incidental findings is recommended. Critical Social Theory is used as a guide in recognition of the changing meaning of informed consent and to serve as a framework to inform nursing of the ethical application of disclosure consent in genomic nursing research practices.

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