Validation of My Family Health Portrait for six common heritable conditions
Validation of My Family Health Portrait for six common heritable conditions
复制标题
DOI：
10.1097/gim.0b013e3181e15bd5
复制
发表时间：
2010-06-01
影响因子：
8.8
通讯作者：
Biesecker, Leslie G.
中科院分区：
文献类型：
--
作者：
Facio, Flavia M.;Feero, W. Gregory;Biesecker, Leslie G.
目的：评估“我的家庭健康画像”准确收集六种常见遗传性疾病家族史的能力。背景：家族史对于评估疾病风险很有用，但并未广泛使用。我们将“我的家庭健康肖像”（一种收集家族史的在线工具）的谱系与遗传学专业人士补充的谱系进行了比较。方法：一百五十名志愿者使用“我的家庭健康肖像”收集他们的家族史。遗传咨询师采访了志愿者，以验证条目并根据需要添加诊断。比较了谱系的内容和情感分配。这些谱系被输入 Family Healthware (TM) 以评估疾病风险。结果：与补充谱系相比，“我的家庭健康肖像”对六种疾病的敏感性有所不同（67-100%）。特异性范围为 92% 至 100%。当使用谱系来生成风险评分时，“我的家庭健康状况”为 94-99% 的志愿者提供了与补充谱系相同的糖尿病、结肠癌、乳腺癌和卵巢癌风险。冠状动脉疾病（68%）和中风（83%）的一致性较低。结论：这些数据支持“我的家庭健康肖像”谱系对于四种常见疾病（糖尿病、结肠癌、乳腺癌和卵巢癌）的有效性。该工具在冠状动脉疾病和中风方面的表现较差。我们建议改进该工具，以更好地捕获这两种常见情况的信息。基因医学 2010：12(6)：370-375。
Purpose: To assess the ability of My Family Health Portrait to accurately collect family history for six common heritable disorders. Background: Family history is useful to assess disease risk but is not widely used. We compared the pedigree from My Family Health Portrait, an online tool for collection of family history, to a pedigree supplemented by a genetics professional. Methods: One hundred fifty volunteers collected their family histories using My Family Health Portrait. A genetic counselor interviewed the volunteers to validate the entries and add diagnoses, as needed. The content and the affection assignments of the pedigrees were compared. The pedigrees were entered into Family Healthware (TM) to assess risks for the diseases. Results: The sensitivity of My Family Health Portrait varied among the six diseases (67-100%) compared to the supplemented pedigree. The specificities ranged from 92 to 100%. When the pedigrees were used to generate risk scores, My Family Health Portrait yielded identical risks to the supplemented pedigree for 94-99% of the volunteers for diabetes and colon, breast, and ovarian cancer. The agreement was lower for coronary artery disease (68%) and stroke (83%). Conclusions: These data support the validity of My Family Health Portrait pedigrees for four common conditions-diabetes and colon, breast, and ovarian cancer. The tool performed less well for coronary artery disease and stroke. We recommend that the tool be improved to better capture information for these two common conditions. Genet Med 2010: 12(6):370-375.