Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Mayo Clinic Biomedical Ethics Program, Rochester, Minnesota, USA.
Genet Med. 2019 Feb;21(2):487-492. doi: 10.1038/s41436-018-0077-6. Epub 2018 Jun 21.
In considering gene modification technologies, the priorities of patient communities must be a central consideration. The purpose of this study is to assess views of families with Down syndrome (DS) regarding potential genome-based interventions.
We constructed an anonymous online survey for family members of people with DS. Participants were asked to agree or disagree with scenarios describing hypothetical interventions to silence or significantly alter the physical and cognitive effects of a trisomy 21, and also with scenarios depicting currently available physical interventions.
All 532 respondents were parents of people with DS. For each of the five scenarios, over half said they would approve the intervention or would advise their children with DS to do so. Responses to hypothetical prenatal and pediatric cognitive interventions were significantly affected by participants' assessments of the impact of DS on their children's and their families' lives, while physical and adult cognitive scenarios were not.
Future interventions to address genetic conditions will impact patient communities and cannot succeed without their input and support. While many parents of people with DS indicated approval for hypothetical genetic therapies, these results indicate a need for continuing dialogue about benefits and drawbacks of gene modification technologies.
在考虑基因修饰技术时，患者群体的优先事项必须是一个核心考虑因素。本研究的目的是评估唐氏综合征（DS）患者家庭对潜在基于基因组的干预措施的看法。
我们为 DS 患者的家庭成员构建了一个匿名在线调查。要求参与者对描述假设干预措施以沉默或显著改变 21 三体物理和认知影响的情景以及描述当前可用的物理干预措施的情景表示同意或不同意。
所有 532 名受访者都是 DS 患者的父母。对于五个情景中的每一个，超过一半的人表示他们会批准干预措施，或者会建议他们的 DS 孩子这样做。对假设的产前和儿科认知干预的反应受到参与者对 DS 对其孩子和家庭生活影响的评估的显著影响，而身体和成人认知情景则没有。
未来针对遗传疾病的干预措施将影响患者群体，如果没有他们的投入和支持，这些干预措施将无法成功。虽然许多 DS 患者的父母表示赞成假设的基因治疗，但这些结果表明需要继续就基因修饰技术的优缺点进行对话。
