Patient informed consent for a clinical trial of gene-edited pig kidney transplantation: A representative consent form
Original Article
David K. C. Cooper
Xenotransplantation, 26 November 2022
Abstract
When clinical trials of gene-edited pig organ transplantation are initiated, the consent form that the patient is requested to sign will be an important document. Consent to receive a pig xenograft will have significant differences when compared with the requirements of most experimental clinical procedures. We here suggest a consent form for pig kidney transplantation that addresses the major points that will be required and hope it will provide a basis for discussion and future modification, if necessary. There is purposely some repetition in the document, but we believe this is necessary to ensure that the patient has a clear understanding of what he/she is consenting to.

Equitable and Informed Consent in Genetic Studies
Editor’s Note
Ann Marie Navar, Sadiya S. Khan
JAMA Cardiology, 16 November 2022
Excerpt
…Importantly, these participants comprised an already highly selected population in whom higher levels of both genetic knowledge and researcher trust would be expected. Participants were recruited largely from tertiary care academic centers, were cared for by a heart failure program, and had consented to undergo whole-exome sequencing. Despite this, several knowledge gaps were identified. For example, 1 in 5 patients believed that once a genetic variant is found, disease can always be prevented or cured. Genetic knowledge was also lower in Hispanic participants and non-Hispanic Black participants compared with non-Hispanic White participants. Reasons for this are unknown, likely multifactorial, and may include differences in exposure to prior education about genetics, disparities in prior referrals for genetic counseling, and differences in the effectiveness of the informed consent process in addressing gaps in knowledge about genetic testing…

Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy
Holly Longstaff, Jaime Flamenbaum, Etienne Richer, Jeanne Egar, Christopher R. McMaster, Ma’n H. Zawati
Canadian Medical Association Journal, 15 November 2022; 194(44)
Open Access
Excerpt
…The purpose of this guidance for policy is to present a core set of elements for participant consent documents to be used in local human genome–based research projects across Canada and to support the development of the national CHGL. These core elements can be also used as a research ethics tool when evaluating human genome–based research projects…

Sharing genomic data for health research: institutional trust and trustworthiness, and informed consent
Mackenzie Graham
Canadian Medical Association Journal, 15 November 2022; 194(44)
Open Access
Excerpt
   Recent years have seen a dramatic increase in the collection, storage and curation of human genomic data for biomedical research. These data sets hold great promise for research into the genetic basis of disease, and represent more diverse populations than have traditionally been accessible in research. Large-scale federated data networks like the proposed Canadian Human Genome Library (CHGL) represent a potential way of providing secure access to these data to researchers beyond select institutions. However, the promise of human genomics research has been encumbered by ethical concerns about data sharing. One particular concern is whether it is possible to obtain informed consent to the population-level research that genomic databases like the CHGL are intended to facilitate.
Participants in genome-based research or patients who receive genome or exome sequencing as part of their clinical care may be asked to consent to allow their data — not only genomic data but associated clinical or administrative data stored by an institution — to be made available to future researchers. Because the future uses of these data are unknown at the time of data collection, concern has been raised about whether consent for this future data use is, or can be, informed…

How Australia’s Policymakers Can Ethically Approach Human Germline Genome Editing Technology
Mangiapane M, Foong P
Journal of law and Medicine, 1 August 2022; 29(3) pp 740-759
Abstract
This article undertakes an analysis of Australia’s laws affecting human germline genome editing (HGGE). It draws on research from various ethical frameworks to analyse the values underpinning existing policy and which could underpin future approaches on HGGE. The article emphasises the importance of protecting egalitarianism, mitigating inequality risks, and ensuring stigmas around people with genetic conditions targeted by HGGE are not perpetuated. Doing so makes the philosophical case for a policy allowing HGGE for research use and considers the potential for limited clinical uses as we advance. The article recommends law reform in Australia in the form of an ongoing legislative review every three years, with the first review considering research and informed consent. The second considers appropriate clinical uses based on medical risk and what is agreed upon to be a list of considerations of a severe enough disease to be treated by HGGE. It gives examples of what the reform might look like, pending public engagement methodologies advocated. Finally, this article recommends considering ancillary legal issues raised by HGGE, including anti-discrimination and potential protections from liability.

Informed consent in a tuberculosis genetic study in Cameroon: information overload, situational vulnerability and diagnostic misconception
Research Article
Ali Ibrahim Mohammed-Ali, Eyoab Iyasu Gebremeskel, Emmanuel Yenshu, Theobald Nji, Apungwa Cornelius Ntabe, Samuel Wanji, Godfrey B Tangwa, Nchangwi Syntia Munung
Research Ethics, 14 June 2022
Open Access
Abstract
Concerns around comprehension and recall of consent information by research participants have typically been associated with low health and research literacy levels. In genomics research, this concern is heightened as the scientific and ethical complexities of genetics research, such as biobanking, genetic susceptibility, data sharing, and incidental findings may be more difficult for potential research participants to understand. However, challenges to research participants’ comprehension of consent information may be compounded by factors beyond health and research literacy levels. To identify factors that may impact research participants’ understanding and recall of consent information, we designed a qualitative study to explore whether participants enrolled in a tuberculosis genetics study (TBGEN-Africa) in Cameroon understood the objectives of the study, the risks and benefits and certain key aspects of the study such as biobanking and data sharing. The results showed that research participants had limited understanding and/or recall of the TBGEN-Africa study goals and methods. Some participants were of the opinion that TBGEN-Africa was not a genetics study because tuberculosis is not an inheritable condition. Factors that may have hindered understanding and/or recall of study information are diagnostic misconception (research participants consider research as part of medical diagnosis), and information overload and situational vulnerability (consent at a time of physical and emotional distress). There is a need for improved practices to support research participants’ understanding of consent information in genetics studies including designing the consent process in ways that minimize psychological distress and diagnostic/therapeutic misconception.

Information Assessment for the Implementation of Electronic Informed Consent for Genetic Studies in a High Complexity Hospital
Juan Descalzo, Eliana Frutos, Romina Rebrij, Daniel Luna, Sonia Benítez
Studies in Health Technology and Informatics, 6 June 2022; 290 pp 227-229
Abstract
The objective of this study was to investigate and analyze the most relevant aspects that influence the development and implementation of electronic informed consent for genetic studies. Interviews were conducted with experts in the area within our institution, the different informed consents available and the number of genetic studies requested in the last 5 years were analyzed. Professionals acknowledged the ethical dilemmas related to the genetic studies and the importance of having an electronic informed consent that not only provides the patient with the information necessary to understand the implications of the study, but also be flexible enough to adapt to the various genetic studies today. The development of informed consent is a challenge for health IT professionals, due to the complexity of the information it contains and the ethical implications it represents.

Moving from ‘fully’ to ‘appropriately’ informed consent in genomics: The PROMICE framework
Julian J Koplin, Christopher Gyngell, Julian Savulescu, Danya F Vears
Bioethics, 7 April 2022
Abstract
Genomic sequencing technologies (GS) pose novel challenges not seen in older genetic technologies, making traditional standards for fully informed consent difficult or impossible to meet. This is due to factors including the complexity of the test and the broad range of results it may identify. Meaningful informed consent is even more challenging to secure in contexts involving significant time constraints and emotional distress, such as when rapid genomic testing (RGS) is performed in neonatal intensive care units. In this article, we propose that informed consent matters not for its own sake, but because obtaining it furthers a range of morally important goals, such as promoting autonomy, well-being, and trust in medicine. These goals form the basis of a new framework [PROmoting Morally Important Consent Ends (PROMICE)] for assessing the ethical appropriateness of various informed consent models. We illustrate this framework with two examples: (a) a tiered and layered consent model for obtaining consent for GS, and (b) consent for RGS in critically ill newborns. We conclude that appropriately-rather than fully-informed consent provides the correct standard for genomic medicine and research.

Informed consent, genomic research and mental health: A integrative review
Nina Kilkku, Arja Halkoaho
Nursing ethics, 4 February 2022
Open Access
Abstract
Background
Research on genomics has increased while the biobank activities are becoming more common in different countries. In the mental health field, the questions concerning the potential participants’ vulnerability as well as capacity to give the informed consent can cause reluctancy in recruiting persons with mental health problems, although the knowledge and understanding of mental health problems has remarkably changed, and practice is guided with inclusive approaches, such as recovery approach.
Aim
The aim of this study was to describe the current knowledge of informed consent practices in the context of genomic research on mental health from the nurses’ viewpoint.
Methods
An integrative review was conducted with search from seven international databases. Data consist 14 publications which were analyzed with thematic analysis.
Ethical considerations
Ethical requirements were respected in every phase of the research process.
Findings
Most of the papers were published in USA and between 2000-2010. Eight reports were categorized as discussion papers, four qualitative studies and one quantitative study. The thematic analysis provided information on five themes: complexity with the capacity to consent, mixed emotions towards participation, factors influencing the decision to participate, nurses’ informed consent process competence and variations between consent procedures.
Discussion
In the informed consent practices, there are various aspects which may affect both the willingness to participate in the study and the informed consent process itself. Implications for practice, education, research, and policies are discussed.
Conclusion
There is a need for more updated international research on the topic in the context of different international and national guidelines, legislation, and directives. This study provided a viewpoint to the more collaborative research activities with people with lived experiences also in this field of research following the ideas of recovery approach.

Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands
Original Article
Wendy Bos, Eline M. Bunnik
Molecular Genetics & Genomic Medicine, 14 January 2022
Open Access
Abstract
Background
Genomic sequencing is being used more frequently in the clinic, not only by clinical geneticists, but also by other specialists (“mainstreaming”). The use of genomic sequencing gives rise to challenges regarding informed consent, as it can yield more, and more complex results.
Methods
This study maps the informed consent process for exome sequencing in the Netherlands by means of semistructured interviews with 14 clinical geneticists. Interviewees were asked about their strategies for informing patients about exome sequencing and supporting patients in their decision making, about what they think of as essential information elements, about the challenges they experience, and about their preferences for future policy and practice.
Results
Clinical geneticists typically discuss the following topics: the nature and aim of the test, the possible results (including unsolicited or incidental findings and Variants of Uncertain Significance) of the test and the consequences of those results for the patient and their family members. Some clinical geneticists use a layered approach to informed consent, meaning that they give short and concise information at first, and provide more detailed information depending on the situation or the needs of the patient.
Conclusion
During pre-test counseling for genomic sequencing, clinical geneticists use various strategies to enhance patient understanding and personalization of the informed consent process. Going forward, layering information may be part of a solution to ethical challenges of informed consent, also in mainstream settings.