Genetics Department, Henri-Mondor Hospital, AP-HP Henri-Mondor, Créteil, France.
Mondor Amyloidosis Network, Créteil, France.
Orphanet J Rare Dis. 2024 Oct 29;19(1):403. doi: 10.1186/s13023-024-03370-z.
Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form. Genetic testing is critical for determining a hereditary predisposition and subsequently initiating appropriate family screening. In France, strict regulations govern genetic testing that aim to protect patients and their families affected by hereditary diseases such as ATTR. However, challenges persist in establishing an effective genetic testing pathway. A multidisciplinary group of French experts convened to discuss the challenges associated with an ATTR genetic diagnosis and to propose improvement strategies. Key challenges include the lack of pathway standardization, communication gaps between healthcare professionals (HCPs) and patients, and difficulties in complying with regulatory requirements. Concerns about patient data safety and outsourced testing quality further complicate matters. Proposed strategies included the development of stakeholder mapping tools for HCPs and patients, educational programs to improve literacy on genetic testing regulations, increase disease awareness among medical geneticists and genetic counselors, and strengthening HCP-patient communication through educational materials. These initiatives aim to streamline the genetic testing pathway, enhance compliance with regulations, and ultimately provide optimal support for patients and families with ATTR.
转甲状腺素蛋白淀粉样变性（ATTR）是一种严重且罕见的疾病，其特征是错误折叠的转甲状腺素蛋白的进行性沉积，导致不可逆转的器官损伤。转甲状腺素蛋白淀粉样变性可表现为遗传性 ATTR 或获得性野生型 ATTR 形式。基因检测对于确定遗传性易感性并随后进行适当的家族筛查至关重要。在法国，严格的基因检测法规旨在保护受遗传性疾病（如 ATTR）影响的患者及其家属。然而，建立有效的基因检测途径仍然存在挑战。一个法国多学科专家组召开会议，讨论与 ATTR 遗传诊断相关的挑战，并提出改进策略。主要挑战包括缺乏途径标准化、医疗保健专业人员（HCPs）与患者之间的沟通差距，以及难以遵守监管要求。对患者数据安全和外包检测质量的担忧进一步使事情复杂化。提出的策略包括为 HCPs 和患者开发利益相关者映射工具、提高基因检测法规知识的教育计划、提高医学遗传学家和遗传咨询师对疾病的认识，以及通过教育材料加强 HCP-患者沟通。这些举措旨在简化基因检测途径，提高法规遵从性，并为 ATTR 患者及其家属提供最佳支持。
