在大型电子健康记录数据集中癌症遗传测试结构化文档的低频率:使用我们所有人的研究数据进行简要报告
Meghan L Underhill1, Xintong Li2, Jaimin Shah2
1School of Nursing, University of Rochester, Rochester, New York, USA.
Journal of genetic counseling
|March 20, 2025
概括
癌症遗传测试的完成率低于最佳,在60,135名符合条件的个人中,只有281人完成了测试. 标准化文档对于改善癌症护理中基因检测的获取和利用至关重要.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 医疗信息学 医疗信息学
背景情况:
- 遗传性癌症综合征占美国每年超过200万例癌症诊断的10-20%.
- 致病变体的遗传检测是癌症护理的组成部分,由瘤病理学和家族病史告知.
- 目前癌症遗传检测的获取率和完成率都不够理想.
研究的目的:
- 确定癌症患者中遗传检测完成率和影响因素.
- 在电子健康记录中分析遗传测试文档.
主要方法:
- 利用了来自我们所有人的研究计划 (超过一百万参与者) 的数据.
- 被诊断为乳腺癌,卵巢癌,结肠癌,子宫内膜癌或胰腺癌的选定参与者使用了All of Us工作台队列构建器.
- 在 Jupyter Notebook 环境中进行描述性和单变量分析.
主要成果:
- 在60135名符合条件的癌症诊断患者中,73%的人报告了癌症家族史.
- 只有281个人有癌症遗传测试的编码.
- 在那些有记录测试的人中,82%的人在癌症诊断后完成了测试.
结论:
- 尽管家族癌症史的患病率很高,但记录的癌症遗传检测很少.
- 由于电子健康记录报告结构的多样化,数据采集和解释存在挑战.
- 标准化文档和共享数据元素对于利用大规模数据来提高癌症遗传测试利用率至关重要.
相关概念视频
01:30Methods of Documentation VII: EMR
821
Electronic Medical Records (EMRs) primarily center around electronically documenting patients' health information within a single healthcare organization or practice. They contain essential clinical data related to a patient's medical history, diagnoses, medications, treatment plans, lab results, and other pertinent information relevant to the specific encounter or episode of care. EMRs are designed to streamline documentation and workflow processes within individual healthcare...
821
01:19Purpose of Health Records II
958
Health records serve various essential purposes in the healthcare system. Here are some key purposes:
958
02:59Cancer Prevention
6.0K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.0K