The genetic family history in internal medicine as a risk assessment tool
The genetic family history in internal medicine as a risk assessment tool
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DOI：
10.1097/01.gim.0000055197.23822.5e
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发表时间：
2003-03-01
影响因子：
8.8
通讯作者：
Ormond, KE
中科院分区：
文献类型：
--
作者：
Frezzo, TM;Rubinstein, WS;Ormond, KE
目的：研究目的是(1)确定未选择的个体患已知遗传成分疾病风险增加的比例；(2)比较问卷调查、家谱访谈和图表回顾之间风险评估的文献和质量。方法：78例内科患者随机分为两组，分别进行问卷调查和家谱访谈。将图表笔记与两种研究工具进行比较。结果：78名参与者中有62人（79.5%）在至少一个类别中得分为风险增加。两种研究工具中的任何一种都发现高危人群（48/ 78,61.5%）明显多于图表回顾（31/ 78,39.7%）（P = 0.01）。结论：在未选择的内科实践中，大约20%的患者风险增加，这在回顾的图表注释中没有记录。有针对性的家族史分析揭示了需要加强医疗监测、预防措施或遗传咨询/检测的患者。
Purpose: The study goals were to (1) determine the proportion of unselected individuals at increased risk for diseases with known genetic components and (2) compare the documentation and quality of risk assessment between a questionnaire, a pedigree interview, and chart review. Methods: Seventy-eight patients seen in a division of internal medicine were randomized into two groups, which completed a questionnaire or underwent a pedigree interview. Chart notes were compared to both study tools. Results: Sixty-two (79.5%) of the 78 participants scored at increased risk for at least one category. Either of the two study tools found significantly more people at high risk (48/78, 61.5%) than the chart review (31/78, 39.7%) (P = 0.01). Conclusions: Approximately 20% of patients in an unselected internal medicine practice were at an increased risk that was not documented in reviewed chart notes. Targeted family history analysis reveals patients who require increased medical surveillance, preventive measures, or genetic counseling/testing.