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在亚太地区管理遗传视网膜疾病的实践模式和挑战:来自APIED网络的调查

Wendy M Wong1, Yih Chung Tham2, Lauren N Ayton3

  • 1Centre for Innovation & Precision Eye Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Department of Ophthalmology, National University Hospital, National University Health System, Singapore.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
|October 4, 2024
PubMed
概括

这项研究突出了亚太地区遗传性视网膜疾病 (IRD) 管理的重大差距,包括有限的遗传测试和低视力康复服务. 调查结果显示,需要改进IRD数据库,遗传咨询和标准化功能评估.

关键词:
遗传咨询 遗传咨询 遗传咨询基因型定制是指基因型定制.遗传性视网膜疾病 遗传性视网膜疾病低视力康复治疗 低视力康复治疗现型化 (Phenotyping) 是一种表现方式.

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科学领域:

  • 眼科医生 眼科 眼科
  • 遗传学 是一个遗传学.
  • 公共卫生 公共卫生

背景情况:

  • 遗传性视网膜疾病 (IRD) 是全球视力损伤的重要原因之一.
  • 对IRD的有效管理需要全面的基因型,表型和康复策略.
  • 亚太 (APAC) 地区在罕见疾病的医疗保健提供方面存在独特的挑战和机遇.

研究的目的:

  • 评估亚太地区IRD的基因型,表型和视力康复服务的现状.
  • 确定在亚太地区的IRD护理提供现有差距和改善领域.
  • 为旨在加强该地区IRD管理的未来战略提供一个基准.

主要方法:

  • 一份由62项组成的电子问卷被分发给12个亚太国家/地区的45个中心.
  • 该调查涵盖了IRD服务结构,注册,基因定型,遗传咨询,表型定型和低视力康复.
  • 分析了来自36个响应中心的数据,以评估当前的做法.

主要成果:

  • 39%的中心缺乏IRD数据库/注册表;44%的中心对不到四分之一的患者进行了基因检测.
  • 67%的中心报告说无法获得遗传咨询师,功能测试方法存在显著的异质性.
  • 只有34%的中心确认使用低视力辅助设备.

结论:

  • 在亚太地区的IRD管理中存在关键差距,包括遗传诊断不足和对遗传顾问的访问有限.
  • 迫切需要建立强大的IRD数据库和注册表.
  • 协调功能视力评估方法和改善低视力康复服务对于更好的患者结果至关重要.