Knapp Stephen T, Revette Anna, Underhill-Blazey Meghan, Stopfer Jill E, Ukaegbu Chinedu I, Poulin Cole, Parenteau Madison, Syngal Sapna, Bae Eunchan, Bickmore Timothy, Hampel Heather, Idos Gregory E, Parmigiani Giovanni, Yurgelun Matthew B, Braun Danielle
Dana-Farber Cancer Institute, 450 Brookline Ave, Boston, MA 02215, USA.
University of Rochester School of Nursing, 601 Elmwood Avenue, Rochester, NY 14642, USA.
Cancers (Basel). 2023 Jan 6;15(2):391. doi: 10.3390/cancers15020391.
Lynch syndrome (LS) is a hereditary cancer susceptibility condition associated with varying cancer risks depending on which of the five causative genes harbors a pathogenic variant; however, lifestyle and medical interventions provide options to lower those risks. We developed MyLynch, a patient-facing clinical decision support (CDS) web application that applies genetically-guided personalized medicine (GPM) for individuals with LS. The tool was developed in R Shiny through a patient-focused iterative design process. The knowledge base used to estimate patient-specific risk leveraged a rigorously curated literature review. MyLynch informs LS patients of their personal cancer risks, educates patients on relevant interventions, and provides patients with adjusted risk estimates, depending on the interventions they choose to pursue. MyLynch can improve risk communication between patients and providers while also encouraging communication among relatives with the goal of increasing cascade testing. As genetic panel testing becomes more widely available, GPM will play an increasingly important role in patient care, and CDS tools offer patients and providers tailored information to inform decision-making. MyLynch provides personalized cancer risk estimates and interventions to lower these risks for patients with LS.
林奇综合征（LS）是一种遗传性癌症易感性疾病，根据五个致病基因中哪一个携带致病变异，其患癌风险各不相同；然而，生活方式和医学干预措施为降低这些风险提供了选择。我们开发了MyLynch，这是一个面向患者的临床决策支持（CDS）网络应用程序，它为患有林奇综合征的个体应用基因指导的个性化医疗（GPM）。该工具是通过以患者为中心的迭代设计过程在R Shiny中开发的。用于估计患者特定风险的知识库利用了经过严格筛选的文献综述。MyLynch向林奇综合征患者告知其个人患癌风险，对患者进行相关干预措施的教育，并根据患者选择采取的干预措施为其提供调整后的风险估计。MyLynch可以改善患者与医疗服务提供者之间的风险沟通，同时鼓励亲属之间的沟通，以增加级联检测。随着基因检测面板越来越普及，个性化医疗将在患者护理中发挥越来越重要的作用，而临床决策支持工具为患者和医疗服务提供者提供量身定制的信息，以指导决策。MyLynch为林奇综合征患者提供个性化的癌症风险估计和降低这些风险的干预措施。
