ILD Center of Excellence, St Antonius Hospital, Nieuwegein, The Netherlands.
Service de Pneumologie A, Hôpital Bichat, APHP, Paris, France.
Respirology. 2022 Sep;27(9):747-757. doi: 10.1111/resp.14303. Epub 2022 Jun 2.
Genetic analysis is emerging for interstitial lung diseases (ILDs); however, ILD practices are not yet standardized. We surveyed patients', relatives' and pulmonologists' experiences and needs on genetic testing in ILD to evaluate the current situation and identify future needs.
A clinical epidemiologist (MT) together with members of the ERS taskforce and representatives of the European Idiopathic Pulmonary Fibrosis and related disorders Federation (EU-IPFF) patient organisation developed a survey for patients, relatives and pulmonologists. Online surveys consisted of questions on five main topics: awareness of hereditary ILD, the provision of information, genetic testing, screening of asymptomatic relatives and clinical impact of genetic analysis in ILD.
Survey respondents consisted of 458 patients with ILD, 181 patients' relatives and 352 pulmonologists. Most respondents think genetic testing can be useful, particularly for explaining the cause of disease, predicting its course, determining risk for developing disease and the need to test relatives. Informing patients and relatives on genetic analysis is primarily performed by the pulmonologist, but 88% (218) of pulmonologists identify a need for more information and 96% (240) ask for guidelines on genetic testing in ILD. A third of the pulmonologists who would offer genetic testing currently do not offer a genetic test, primarily because they have limited access to genetic tests. Following genetic testing, 72% (171) of pulmonologists may change the diagnostic work-up and 57% (137) may change the therapeutic approach.
This survey shows that there is wide support for implementation of genetic testing in ILD and a high need for information, guidelines and access to testing among patients, their relatives and pulmonologists.
遗传分析在间质性肺疾病（ILD）中逐渐兴起；然而，ILD 实践尚未标准化。我们调查了患者、患者亲属和肺科医生在ILD 基因检测方面的经验和需求，以评估现状并确定未来的需求。
一名临床流行病学家（MT）与 ERS 工作组的成员以及欧洲特发性肺纤维化和相关疾病联合会（EU-IPFF）患者组织的代表一起制定了针对患者、患者亲属和肺科医生的调查问卷。在线调查包括五个主要主题的问题：遗传性ILD 的意识、信息提供、基因检测、无症状亲属的筛查以及ILD 中基因分析的临床影响。
调查受访者包括 458 名ILD 患者、181 名患者亲属和 352 名肺科医生。大多数受访者认为基因检测可能有用，特别是用于解释疾病的病因、预测疾病的进程、确定患病风险以及亲属检测的必要性。向患者和亲属告知基因分析主要由肺科医生进行，但 88%（218）的肺科医生认为他们需要更多的信息，96%（240）要求提供ILD 基因检测指南。三分之一愿意提供基因检测的肺科医生目前没有提供基因检测，主要是因为他们获取基因检测的途径有限。在进行基因检测后，72%（171）的肺科医生可能会改变诊断方案，57%（137）可能会改变治疗方法。
这项调查表明，ILD 中实施基因检测得到了广泛支持，患者、患者亲属和肺科医生对信息、指南和检测途径的需求很高。
