Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, TX.
McGovern Medical School, University of Texas Health Science Center, Houston, TX.
Semin Vasc Surg. 2022 Mar;35(1):51-59. doi: 10.1053/j.semvascsurg.2022.02.003. Epub 2022 Feb 25.
Aortic dissection confers high mortality and morbidity rates despite advances in treatment, impacts quality of life, and contributes immense burden to the healthcare system globally. Efforts to prevent aortic dissection through screening and management of modifiable risk factors and early detection of aneurysms should incorporate genomic information, as it is integral to stratifying risk. However, effective integration of genomic-guided risk assessment into clinical practice will require addressing implementation barriers that currently permeate our healthcare systems. The Aortic Dissection Collaborative was established to define aortic dissection research priorities through patient engagement. Using a collaborative patient-centered feedback model, our Genomic Medicine Working Group identified related research priorities that could be investigated by pragmatic interventional studies aimed at aortic dissection prevention, utilization of genomic information to improve patient outcomes, and access to genomic medicine services. Further research is also needed to identify the genomic, lifestyle, and environmental risk factors that contribute to aortic dissection so these data can be incorporated into future comparative effectiveness studies to prevent aortic dissection.
尽管在治疗方面取得了进展，但主动脉夹层的死亡率和发病率仍然很高，它影响生活质量，并给全球的医疗保健系统带来巨大负担。通过筛查和管理可改变的危险因素以及早期发现动脉瘤来预防主动脉夹层的努力应该纳入基因组信息，因为这是分层风险的关键。然而，要将基因组指导的风险评估有效纳入临床实践，就需要解决当前充斥我们医疗保健系统的实施障碍。主动脉夹层协作组织成立的目的是通过患者参与来确定主动脉夹层的研究重点。使用协作的以患者为中心的反馈模型，我们的基因组医学工作组确定了相关的研究重点，这些重点可以通过旨在预防主动脉夹层的实用干预性研究进行调查，包括利用基因组信息改善患者结局，以及获得基因组医学服务。还需要进一步研究确定导致主动脉夹层的基因组、生活方式和环境风险因素，以便将这些数据纳入未来的比较效果研究中，以预防主动脉夹层。
