Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-08-02 DOI:10.1007/s12687-024-00723-w
Angelique Diedericks, Zandré Bruwer, Nakita Laing, Emma Eastman, Jantina De Vries, Charles R Newton, Amina Abubakar, Elise B Robinson, Kirsten A Donald
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Abstract

Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South African communities.

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南非家长对返还神经发育障碍基因组研究成果的看法:预期影响和偏好。
在非洲,关于向研究参与者披露基因组结果的政策很少,研究也不多。由于了解参与者的偏好对反馈过程的成功至关重要,本研究通过与正在进行的神经发育障碍基因组学研究项目的参与者接触来解决这一问题,目的是评估收到相关结果的预期影响,并探索在南非背景下对反馈的偏好。研究人员对 17 名参与研究的儿童家长进行了 12 次半结构式访谈。利用主题分析和框架矩阵对访谈记录和观察笔记进行了分析。参与者将自己的意义与收到相关结果的影响联系起来,并认为这些信息除了临床实用性外,还有其他有用的原因。这些原因包括结案、改善对其子女病情的管理以及有关复发风险的信息。就反馈的偏好而言,由研究小组成员或熟悉其子女情况的医疗专业人员亲自进行结果传递是首选。此外,参与者对自己的血液或自己对研究的贡献有一种主人翁感,即使是无关紧要的结果,他们也能从中找到意义。这些发现让我们深入了解了讨论的类型,这些讨论对于在南非社区内以文化适宜的方式制定返还个人基因研究结果的最佳实践和指南可能很有价值。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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