Department of Translational and Applied Genomics, Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA.
Dana Farber Cancer Institute, Boston, MA, USA.
Fam Cancer. 2022 Apr;21(2):167-180. doi: 10.1007/s10689-021-00243-3. Epub 2021 Mar 23.
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 (PREMM™ 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 PREMM™ 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 PREMM™ 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.
林奇综合征(LS)是最常见的遗传性结直肠癌和子宫内膜癌病因。在没有个人癌症史的情况下,确定具有 LS 风险的个体需要详细收集和评估家族健康史。然而,在家族健康史收集方面存在障碍,尤其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,我们通过迭代开发过程,将面向提供者的基因突变预测模型(PREMM™模型)改编为面向患者的电子应用程序,该模型是经过验证的 LS 风险评估模型,涉及专家和患者利益相关者。我们报告了在初级保健人群中,针对前 500 名接受适应性应用程序的个体的初步发现,该人群丰富了低识字率和低资源患者。对 PREMM™提供者模块的主要改编包括降低阅读水平、增加互动识字辅助、纳入对家庭的母系和父系双方的家族史评估,以及纳入有关个体亲属或亲属小团体的问题,以减轻认知负担。在前 500 名个体中,90%的个体独立完成了 PREMM™;其中,94%的个体在 5 分钟内完成(范围从 0.2 分钟到 48.8 分钟)。面向患者的应用程序能够准确地将 84%的患者分为具有临床显著或不具有临床显著 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、准确和独立地完成交互式应用程序,该应用程序能够准确评估林奇综合征风险。