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Adaptation and early implementation of the PREdiction model for gene mutations (PREMM 5 ™) for lynch syndrome risk assessment in a diverse population
Familial Cancer ( IF 2.2 ) Pub Date : 2021-03-23 , DOI: 10.1007/s10689-021-00243-3
Kathleen F Mittendorf 1 , Chinedu Ukaegbu 2, 3 , Marian J Gilmore 1 , Nangel M Lindberg 4 , Tia L Kauffman 1 , Donna J Eubanks 4 , Elizabeth Shuster 4 , Jake Allen 4 , Carmit McMullen 4 , Heather Spencer Feigelson 5 , Katherine P Anderson 6 , Michael C Leo 4 , Jessica Ezzell Hunter 1 , Sonia Okuyama Sasaki 6 , Jamilyn M Zepp 1 , Sapna Syngal 2, 3, 7 , Benjamin S Wilfond 8, 9 , Katrina A B Goddard 1
Affiliation  

Lynch syndrome (LS) is the most common inherited cause of colorectal and endometrial cancers. Identifying individuals at risk for LS without personal cancer history requires detailed collection and assessment of family health history. However, barriers exist to family health history collection, especially in historically underserved populations. To improve LS risk assessment in historically underserved populations, we adapted the provider-facing PREdiction Model for gene Mutations (PREMM5™ model), a validated LS risk assessment model, into a patient-facing electronic application through an iterative development process involving expert and patient stakeholders. We report on preliminary findings based on the first 500 individuals exposed to the adapted application in a primary care population enriched for low-literacy and low-resource patients. Major adaptations to the PREMM5™ provider module included reduction in reading level, addition of interactive literacy aids, incorporation of family history assessment for both maternal and paternal sides of the family, and inclusion of questions about individual relatives or small groups of relatives to reduce cognitive burden. In the first 500 individuals, 90% completed the PREMM5™ independently; of those, 94% did so in 5 min or less (ranged from 0.2 to 48.8 min). The patient-facing application was able to accurately classify 84% of patients as having clinically significant or not clinically significant LS risk. Our preliminary results suggest that in this diverse study population, most participants were able to rapidly, accurately, and independently complete an interactive application collecting family health history assessment that accurately assessed for Lynch syndrome risk.



中文翻译:

基因突变预测模型 (PREMM 5™) 的适应和早期实施,用于在不同人群中进行林奇综合征风险评估

林奇综合征 (LS) 是结直肠癌和子宫内膜癌最常见的遗传原因。识别没有个人癌症史的有 LS 风险的个体需要详细收集和评估家族健康史。然而,家庭健康史收集存在障碍,特别是在历史上服务不足的人群中。为了改善历史上服务不足人群的 LS 风险评估,我们采用了面向提供者的基因突变预测模型 (PREMM 5™ 模型),一个经过验证的 LS 风险评估模型,通过涉及专家和患者利益相关者的迭代开发过程,进入面向患者的电子应用程序。我们报告的初步调查结果基于前 500 名在低文化和低资源患者中丰富的初级保健人群中暴露于适应应用程序的个体。对 PREMM 5 ™ 提供者模块的主要调整包括降低阅读水平、增加互动式识字辅助工具、纳入对家庭的母亲和父亲双方的家族史评估,以及纳入有关个别亲属或小团体亲属的问题以减少认知负担。在前 500 人中,90% 完成了 PREMM 5™ 独立;其中,94% 在 5 分钟或更短的时间内完成(范围从 0.2 到 48.8 分钟)。面向患者的应用程序能够准确地将 84% 的患者分类为具有临床意义或不具有临床意义的 LS 风险。我们的初步结果表明,在这个多样化的研究人群中,大多数参与者能够快速、准确和独立地完成一个交互式应用程序,该应用程序收集了准确评估林奇综合征风险的家族健康史评估。

更新日期:2021-03-23
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