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Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients.

ABSTRACT: Next-generation sequencing is increasingly being chosen as a diagnostic tool for cases of expected genetic, but unresolved origin. The consequential increased need for decisions on disclosure of unsolicited findings poses a challenge for the informed consent procedure. This study explored the first experiences with, and needs for, the informed consent procedure in diagnostic exome sequencing, with the stakeholders involved. Semi-structured interviews were conducted with 11 professional experts and one professional gave a written response. Furthermore, the counseling process was observed in three cases where exome sequencing was offered, followed by interviews with the patient (representative) and the genetic counselor. The respondents not only preferred an opt-out for unsolicited findings but also identified many challenges and therefore more experiences with exome sequencing was considered needed. Context-dependent decision-making was observed and an Advisory Board for unsolicited findings was considered helpful while doubts were raised about the feasibility and the possibility of undermining patients' autonomy. Finally, respondents brought up the complexity of information provision, and division of responsibilities between clinicians and the lab. These challenges and needs, raised by stakeholders involved, provide more insight in the next steps needed for an optimal informed consent procedure for exome sequencing in diagnostics.

SUBMITTER: Rigter T

PROVIDER: S-EPMC4231277 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature

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Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients.

Rigter T T van Aart C J A CJ Elting M W MW Waisfisz Q Q Cornel M C MC Henneman L L

Clinical genetics 20131104 5

Next-generation sequencing is increasingly being chosen as a diagnostic tool for cases of expected genetic, but unresolved origin. The consequential increased need for decisions on disclosure of unsolicited findings poses a challenge for the informed consent procedure. This study explored the first experiences with, and needs for, the informed consent procedure in diagnostic exome sequencing, with the stakeholders involved. Semi-structured interviews were conducted with 11 professional experts a ...[more]

PMID: 24117109

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Project description:Background Informed consent is often cited as the “cornerstone” of research ethics. Its intent is that participants enter research voluntarily, with an understanding of what their participation entails. Despite agreement on the necessity to obtain informed consent in research, opinions vary on the threshold of disclosure necessary and the best method to obtain consent. We aimed to investigate Australian researchers’ views on, and their experiences with, obtaining informed consent. Methods Semi-structured interviews were conducted with 23 researchers from NSW institutions, working in various fields of research. Interviews were analysed and coded to identify themes. Results Researchers reported that consent involved information disclosure, understanding and a voluntary decision. They emphasised the variability of consent interactions, which were dependent on potential participants’ abilities and interests, study complexity and context. All researchers reported providing written information to potential participants, yet questioned the readability and utility of this information. The majority reported using signed consent forms to ‘operationalise’ consent and reported little awareness of, and lack of support in implementing more dynamic informed consent procedures, such as verbal informed consent, that was fit for the purposes of their studies. Views on Human Research Ethics Committees (HRECs) varied. Some reported inconsistent, arduous inputs on the information form and consent process. Others expressed reliance on HRECs for guidance, viewing them as institutional safeguards. Conclusions This study highlights the importance of transparent relationships, both between researchers and participants, and between researchers and HRECs. Where the relationship with study participants was reported as more robust, researchers felt that they were better able to ensure participants made better, more informed decisions. Where the relationship with HRECs was reported as more robust, researchers were more likely to view them as institutional safeguards, rather than as bureaucratic hindrances. Conscientious and mindful researchers are paramount to ensuring the procedure accommodates individual requirements. This study advocates that when designing ethical informed consent practices, researchers should be integrated as autonomous players with a positive input on the process, rather than, in the worst case, predatory recruiters to be curtailed by information forms and oversight.

Project description:BackgroundThe landscape of clinical research has evolved over the past decade. With technological advances, the practice of using electronic informed consent (eIC) has emerged. However, a number of challenges hinder the successful and widespread deployment of eIC in clinical research. Therefore, we aimed to investigate the views of various stakeholders on the potential advantages and challenges of eIC.MethodsSemi-structured interviews were conducted with 39 participants from 5 stakeholder groups from across 11 European countries. The stakeholder groups included physicians, patient organization representatives, regulator representatives, ethics committee members, and pharmaceutical industry representatives, and all were involved in clinical research. Interviews were analyzed using the framework method.ResultsInterviewees identified that a powerful feature of eIC is its personalized approach as it may increase participant empowerment. However, they identified several ethical and practical challenges, such as ensuring research participants are not overloaded with information and offering the same options to research participants who would prefer a paper-based informed consent rather than eIC. According to the interviewees, eIC has the potential to establish efficient long-term interactions between the research participants and the research team in order to keep the participants informed during and after the study. Interviewees emphasized that a personal interaction with the research team is of utmost importance and this cannot be replaced by an electronic platform. In addition, interviewees across the stakeholder groups supported the idea of having a harmonized eIC approach across the European Member States.ConclusionsInterviewees reported a range of design and implementation challenges which needs to be overcome to foster innovation in informing research participants and obtaining their consent electronically. It was considered important that the implementation of eIC runs alongside the face-to-face contact between research participants and the research team. Moreover, interviewees expect that eIC could offer the opportunity to enable a personalized approach and to strengthen continuous communication over time. If successfully implemented, eIC may facilitate the engagement of research participants in clinical research.

Project description:BackgroundThe process of informed consent for enrolment to a clinical research study can be complex for both participants and research staff. Challenges include respecting the potential participant's autonomy and information needs while simultaneously providing adequate information to enable an informed decision. Qualitative research with small sample sizes has added to our understanding of these challenges. However, there is value in garnering the perspectives of research participants and staff across larger samples to explore the impact of contextual factors (time spent, the timing of the discussion and the setting), on the informed consent process.MethodsResearch staff and research participants from Ireland and the UK were invited to complete an anonymous survey by post or online (research participants) and online (research staff). The surveys aimed to quantify the perceptions of research participants and staff regarding some contextual factors about the process of informed consent. The survey, which contained 14 and 16 multiple choice questions for research participants and staff respectively, was analysed using descriptive statistics. Both surveys included one optional, open-ended question, which were analysed thematically.ResultsResearch participants (169) and research staff (115) completed the survey. Research participants were predominantly positive about the informed consent process but highlighted the importance of having sufficient time and the value of providing follow-up once the study concludes, e.g. providing results to participants. Most staff (74.4%) staff reported that they felt very confident or confident facilitating informed consent discussions, but 63% felt information leaflets were too long and/or complicated, 56% were concerned about whether participants had understood complex information and 40% felt that time constraints were a barrier. A dominant theme from the open-ended responses to the staff survey was the importance of adequate time and resources.ConclusionsResearch participants in this study were overwhelmingly positive about their experience of the informed consent process. However, research staff expressed concern about how much participants have understood and studies of patient comprehension of research study information would seem to confirm these fears. This study highlights the importance of allocating adequate time to informed consent discussions, and research staff could consider using Teach Back techniques.Trial registrationNot applicable.

Project description:BackgroundThe widely established treatment for psychosis is long-term antipsychotic medication. However, many people stop taking this treatment, and request other options. There are also growing concerns about adverse effects, but currently no professional guidelines to support reducing or stopping these drugs. The views and experiences of individual mental health professionals around reducing and stopping antipsychotics are therefore crucial in treatment decisions.MethodsWe conducted 7 focus groups with prescribing psychiatrists and other members of community-based statutory mental health services in London. Participants discussed their views about, experiences, and processes of antipsychotic reduction and discontinuation. Data were analysed using thematic analysis.ResultsParticipants acknowledged that antipsychotics can have severe adverse effects. They were generally supportive of trying to reduce these drugs to the lowest effective dose, although stopping antipsychotics was less acceptable. Prior experiences of adverse events after reduction or discontinuation meant that both were approached with caution. Reduction was also reported to be hampered by organisational and knowledge barriers. Lack of resources, pressure to discharge, and poor continuity of care were seen as organisational barriers. Knowledge barriers included inadequate evidence about who might be best suited to reduction, and lack of guidance about how this could be done safely. This meant that reduction was often prompted by patients, and sometimes actively discouraged, and stability with maintenance treatment was often favoured.ConclusionsConcerns about risk and other barriers means that clinicians are often reluctant to implement reduction or discontinuation of antipsychotic medication. In order to increase the treatment options available to service users, more research and guidance on how to minimise the risks of antipsychotic reduction and discontinuation is required to enable clinicians to engage more constructively with service users requests, offering people more choice and control in managing their mental health condition.

Project description:BackgroundInformed consent (IC) is a healthcare standard emphasizing the meaning of human dignity as clarified in the Universal Declaration of Human Rights. Data about IC practices in Egypt is insufficient. This study aimed to assess the Egyptian patients'/guardians' experiences about IC and their expectations about its practices' purposes in general and according to the type of the healthcare facility.MethodsSelf-administered questionnaire was carried out for 1092 participants who had undergone or were scheduled to a procedure requiring an IC at three studied types for Egyptian health care facilities. Ten statements were ranked twice by the participants to reflect their perception of IC purpose as per what is currently practiced and what they believe should be practiced.ResultsIC implementation varies significantly (p<0.05) across the health care facilities in Egypt. The percentage of its implementation at the non-governmental facilities, governmental facilities, and university hospital was 85.9%, 77.8%, and 63.8 respectively. The first three ranked purposes of the current IC practices were: "Helping patient/guardian decide (64.9%)", "Documenting patient's/guardian's decision (59.3%)", and "Having shared decision (57.3%)". The perceived purposes of IC to be practiced were: "Informing the patient/guardian (68.4%)", "Making sure patient/guardian understand (65.3%)" and "Documenting patients/guardians decisions (65.1%)". "Being a meaningless routine" was reported by the majority to be ranked as a low purpose for IC current and preferred practices.ConclusionThe practice of IC is common within the Egyptian medical community. Participants believe that information disclosure "Making sure patients understand" has to help in IC decision making and its main purpose. However, unfortunately, this is not perceived as a current purpose of IC. There was consensus agreement that documenting the patient's/guardian's decision and informing the patient/guardian are perceived as both important current and preferred purposes for IC practices.

Dataset Information

Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients.

Publications

Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients.

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