Turbitt Erin, Bourne Meg, McEwen Alison, Amor David J
Discipline of Genetic Counselling, University of Technology Sydney, Ultimo, NSW, Australia.
Murdoch Children's Research Institute, Parkville, VIC, Australia.
Dev Med Child Neurol. 2024 Jul;66(7):872-881. doi: 10.1111/dmcn.15830. Epub 2023 Dec 18.
To investigate parents' preferences and motivations for receiving and discussing prognostic genetic test results.
We used a cross-sectional, interpretive description qualitative study design. We collected data through semi-structured interviews with Australian parents, which we analysed using reflexive thematic analysis.
Parents (n = 32) had a child or children with a genetic neurodevelopmental condition, such as fragile X syndrome, DiGeorge (22q11.2 deletion) syndrome, or Angelman syndrome. Parents of mildly impacted or older children were tolerant to prognostic uncertainty. Parents found conversations about their child's prognosis emotional and preferred to discuss their child's potential strengths and challenges. While most were enthusiastic about prognostic tests and described many motivations for testing, the potential for prognostic information to contribute to a loss of hope and stigmatizing societal views were also discussed.
Parents had mixed preferences and motivations for acquiring prognostic genetic information about their child, contrasting evidence in other contexts such as cancer where parents typically have minimal tolerance of uncertainty. Health professionals should consider strength-based framing of prognostic information gained from current and emerging technologies when returning results to families.
Parents had varied views about receiving prognostic information on their children's neurodevelopmental condition. Some parents preferred prognostic uncertainty about their children's genetic neurodevelopmental condition.
调查父母对于接收和讨论预后基因检测结果的偏好及动机。
我们采用了横断面、解释性描述性定性研究设计。通过对澳大利亚父母进行半结构化访谈收集数据，并使用反思性主题分析进行分析。
32名父母育有一名或多名患有遗传性神经发育疾病的子女，如脆性X综合征、迪乔治（22q11.2缺失）综合征或天使综合征。受影响较轻或年龄较大儿童的父母能够容忍预后的不确定性。父母们发现关于孩子预后的谈话令人情绪激动，更愿意讨论孩子的潜在优势和挑战。虽然大多数人对预后检测充满热情，并描述了许多检测的动机，但也讨论了预后信息可能导致希望破灭和社会歧视性观点的问题。
父母对于获取孩子的预后基因信息有着复杂的偏好和动机，这与癌症等其他背景下的证据形成对比，在癌症中父母通常对不确定性的容忍度极低。医疗专业人员在向家庭反馈检测结果时，应考虑对从现有和新兴技术中获得的预后信息进行基于优势的阐述。
父母对于获取孩子神经发育疾病的预后信息有不同看法。一些父母更倾向于孩子遗传性神经发育疾病预后的不确定性。
