Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-10-01 Epub Date: 2024-09-18 DOI:10.1007/s12687-024-00734-7
Brenda Bogaert, Marie-Josée Crevier, Cindy Roth, Ralf J Jox, Gaia Barazzetti
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Abstract

This article elaborates research participant perspectives on the communication of individual research results from genomic analyses. While most analyses focus on how to communicate results from the perspectives of clinicians or researchers, there is insufficient data on user perspectives and how this information may be used, valued, and interpreted by patients and their families. The concept of personal utility, which considers factors related to quality of life, including on how information may impact the person's future decisions, has been shown to be particularly relevant to understand research participant perspectives and to move beyond clinical and analytic utility factors such as mortality and morbidity. This article draws from qualitative research of research participants awaiting genomic results in the case of sudden cardiac death. Our results show perspectives of personal utility in communication of genomic results, including cognitive, behavioral, and affective outcomes. Cognitive outcomes include gain of information, improved knowledge of etiology and inheritance characteristics, and curiosity for what might be found. Behavioral outcomes include being able to plan life decisions, while affective outcomes include various coping strategies used. We will also discuss the value of knowing negative results and incidental findings from the research participant's perspective. This contribution gives suggestions on best practices to guide genome analysis returns, including incorporating participant wishes on individualized communication at the consent stage; developing relational autonomy approaches; and engaging them throughout the research trajectory.

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研究参与者对公开基因组分析个人研究成果的个人效用的看法。
本文阐述了研究参与者对基因组分析个人研究结果交流的看法。虽然大多数分析都侧重于如何从临床医生或研究人员的角度交流结果,但关于用户角度以及患者及其家属如何使用、重视和解释这些信息的数据却不足。个人效用的概念考虑了与生活质量相关的因素,包括信息如何影响个人的未来决策,已被证明与了解研究参与者的观点特别相关,并超越了死亡率和发病率等临床和分析效用因素。本文以心脏性猝死为例,对等待基因组结果的研究参与者进行了定性研究。我们的研究结果显示了基因组结果交流中的个人效用视角,包括认知、行为和情感结果。认知结果包括获得信息、提高对病因学和遗传特征的认识,以及对可能发现的结果的好奇心。行为结果包括能够规划生活决策,而情感结果则包括所使用的各种应对策略。我们还将从研究参与者的角度讨论了解负面结果和偶然发现的价值。本文就指导基因组分析回报的最佳实践提出了建议,包括在同意阶段纳入参与者对个性化交流的愿望;开发关系自主方法;以及让他们参与整个研究轨迹。
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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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