Arnold S Jeanne A N, Houtman Diewertje, Retel Helmrich Isabel R A, Hilberink Sander R, Riedijk Sam R
Erasmus Medical Center, Department of Clinical Genetics, Rotterdam, the Netherlands.
Research Center Innovations in Care, Rotterdam University of Applied Sciences, Rotterdam, The Netherlands.
J Community Genet. 2025 Apr 14. doi: 10.1007/s12687-025-00792-5.
Views of people with a genetic condition are crucial in deliberations on human germline gene editing (HGGE), but their perspectives are at risk to be devalued due to epistemic injustice and insufficient attention for the possible sensitivities surrounding HGGE. This study set out to explore the perspectives of people dealing with a genetic condition regarding HGGE, and the possible sensitivities surrounding this topic. We conducted a 2-phase qualitative interview (N = 29) and focus group study (N = 9) on the perspectives of people with or carrying a genetic condition and family members regarding HGGE. Insights from the interviews were used in the organization of the focus groups. We included 38 persons who have experiences with 18 different genetic conditions. Three main themes were identified: personal deliberation on HGGE, HGGE in the context of reproductive decision making and the impact of HGGE on society. Participants stated discussing the topic was controversial, complicated and overwhelming. An informal setting with peer support helped them to process their thoughts and feelings. This study found three main conclusions. First, the perspectives on HGGE are highly influenced by the perception of a genetic condition as a burden or as part of an identity. Secondly, in the deliberation on HGGE, many participants experienced a conflict between accepting a genetic condition and taking action to mitigate potential harm. Thirdly, the subject and object of the deliberation on HGGE mattered: for whom and what for? Moreover, this study has yielded pragmatic recommendations to accommodate sensitivities around discussing HGGE.
患有遗传疾病的人的观点在关于人类生殖系基因编辑（HGGE）的讨论中至关重要，但由于认知不公正以及对HGGE可能涉及的敏感性缺乏足够关注，他们的观点有被贬低的风险。本研究旨在探讨患有遗传疾病的人对HGGE的看法，以及围绕该主题可能存在的敏感性。我们针对患有或携带遗传疾病的人和家庭成员对HGGE的看法进行了两阶段的定性访谈（N = 29）和焦点小组研究（N = 9）。访谈所得的见解被用于组织焦点小组。我们纳入了38名有18种不同遗传疾病经历的人。确定了三个主要主题：对HGGE的个人思考、生殖决策背景下的HGGE以及HGGE对社会的影响。参与者表示讨论这个话题具有争议性、复杂性且令人难以承受。有同伴支持的非正式环境有助于他们梳理自己的想法和感受。本研究得出了三个主要结论。第一，对HGGE的看法很大程度上受到将遗传疾病视为负担或身份一部分的认知的影响。第二，在对HGGE的讨论中，许多参与者在接受遗传疾病和采取行动减轻潜在危害之间经历了冲突。第三，HGGE讨论的主体和对象很重要：为了谁以及为何目的？此外，本研究还提出了切实可行的建议，以顾及围绕讨论HGGE的敏感性问题。
