数据来源和确定方法对报告儿科遗传疾病患病率的影响:范围审查
Stephanie Gjorgioski1,2, Melanie Tassos1, Monique F Kilkenny2,3
1La Trobe University, Australia.
概括
数据来源和确定方法显著影响儿童遗传疾病流行率估计. 仅仅依靠编码的数据风险不足确定,突出需要改进监控基础设施.
科学领域:
- 医学遗传学 医学遗传学
- 公共卫生监督 公共卫生监督
- 流行病学 流行病学
背景情况:
- 遗传疾病是儿童疾病和死亡的主要原因.
- 准确估计遗传疾病的负担是具有挑战性的.
- 流行数据对于资源分配和干预计划至关重要.
研究的目的:
- 评估数据来源和确定方法如何影响儿科遗传病的流行率估计.
- 为了比较澳大利亚和国际上的发现.
- 识别当前监控实践中的差距.
主要方法:
- 按照阿克西和奥马利的框架进行范围审查.
- 在主要数据库 (Medline,CINAHL,Scopus,Google Scholar) 进行系统搜索和参考雪球.
- 包括对6岁以下儿童进行的同行评审研究 (2004-2024年),报告澳大利亚,新西兰,欧洲或北美的流行率,数据源和确定方法.
主要成果:
- 注册表是最常见的数据来源 (62.1%),在78%的研究中使用了活跃病例确定.
- 医学记录抽象,基因测试和ICD编码数据是主要策略.
- 澳大利亚的研究显示,基因检测/医疗记录与ICD编码数据相比,患病率更高;具有积极确定的国际注册表报告了患病率高于被动方法.
结论:
- 数据来源和确定方法对遗传疾病患病率估计有重大影响.
- 仅仅依赖国际疾病分类 (ICD) 编码的数据可能导致不足的确定.
- 澳大利亚需要综合监测基础设施,包括罕见疾病的孤儿网命名法 (ORPHAcodes) 和扩展的注册表,以改善遗传疾病流行率估计.
关键词:
案例调查确定情况.染色体疾病 染色体疾病疾病的频率 疾病的频率遗传病是一种遗传性疾病.管理健康信息 管理健康信息医院记录 医院记录疾病的国际分类.单一的条件单一的条件.公共卫生监督公共卫生监督登记处 登记处 登记处 登记处更多相关视频
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