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
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
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.
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.
An integrative review was conducted with search from seven international databases. Data consist 14 publications which were analyzed with thematic analysis.
Ethical requirements were respected in every phase of the research process.
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 7 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.
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.
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
Wendy Bos, Eline M. Bunnik
Molecular Genetics & Genomic Medicine, 14 January 2022
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.
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.
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.
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.
Functional genomics data: privacy risk assessment and technological mitigation
Gamze Gürsoy, Tianxiao Li, Mark B. Gerstein
Perspective | 10 November 2021
Nature Reviews Genetics
The generation of functional genomics data by next-generation sequencing has increased greatly in the past decade. Broad sharing of these data is essential for research advancement but poses notable privacy challenges, some of which are analogous to those that occur when sharing genetic variant data. However, there are also unique privacy challenges that arise from cryptic information leakage during the processing and summarization of functional genomics data from raw reads to derived quantities, such as gene expression values. Here, we review these challenges and present potential solutions for mitigating privacy risks while allowing broad data dissemination and analysis.