扩大儿科全基因组测序的实施:来自SeqFirst提供者的见解,以告知公平获得精确的遗传诊断的信息
Joon-Ho Yu1, Katherine E MacDuffie2, Olivia Sommerland3
1University of Washington, Department of Pediatrics, Division of Genetic Medicine, Seattle, WA, USA; University of Washington, Institute for Public Health Genetics, Seattle, WA USA; Department of Pediatrics, Division of Bioethics and Palliative Care, University of Washington, Seattle, WA, USA; Seattle Children's Hospital and Research Institute, Seattle, WA, USA.
HGG advances
|June 5, 2025
概括
全基因组测序 (WGS) 提供了一条直接途径,用于对罕见的儿童疾病进行精确的遗传诊断. 然而,提供者对家庭的看法可能会推迟WGS的访问,影响公平的医疗保健服务.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 获得医疗保健 获得医疗保健 获得医疗保健
背景情况:
- 全基因组测序 (WGS) 是儿童罕见遗传疾病的强大诊断工具.
- 包括WGS在内的基因服务的公平获取受到各种结构和社会因素的限制.
- 机会差异可能源于家庭,医疗保健提供者和机构之间的互动.
研究的目的:
- 通过WGS.识别障碍,并为通过WGS.改进获得精确遗传诊断 (PrGD) 的公平准入提供战略.
- 了解新生儿科医生和神经发育 (NDV) 提供者关于WGS实施的观点.
- 探索供应商的看法如何影响WGS对家庭的引入.
主要方法:
- 与19名新生儿科医生和NDV提供者进行了半结构化的关键信息人采访.
- 受访者参与了将家庭推到WGS的SeqFirst研究.
- 定性数据分析以确定与WGS接入障碍相关的主题.
主要成果:
- 提供者表达了对提供WGS的热情,尽管医疗背景不同.
- 影响WGS引入的关键考虑因素包括对家庭能力,准备能力和信任的看法.
- 提供者-家庭关系也是基因测试信息的时间和交付的一个重要因素.
- 调查结果表明,提供者对家庭的看法可能导致WGS实施延迟.
结论:
- 提供者对家庭及其社会背景的看法为WGS实施带来了挑战和机会.
- 需要制定战略来促进和最大限度地促进所有需要精确遗传诊断的儿童平等地获得WGS.
- 解决供应商偏见和改善供应商家庭互动对于公平的WGS交付至关重要.
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