Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Unit of Medical Genetics, University Hospital Ferrara, Ferrara, Italy.
PLoS One. 2020 Sep 18;15(9):e0239329. doi: 10.1371/journal.pone.0239329. eCollection 2020.
The genetic diagnostics of inherited neuromuscular diseases (NMDs) is challenging due to their clinical and genetic heterogeneity. We launched an online survey within the EURO-NMD European Reference Network (ERN) to collect information about the availability/distribution of genetic testing across 61 ERN health care providers (HCPs). A 17 items questionnaire was designed to address methods used, the number of genetic tests available, the clinical pathway to access genetic testing, the use of next-generation sequencing (NGS) and participation to quality assessment schemes (QAs). A remarkable number of HCPs (49%) offers ≥ 500 genetic tests per year, 43,6% offers 100-500 genetic tests per year, and 7,2% ≤ 100 per year. NGS is used by 94% of centres, Sanger sequencing by 84%, MLPA by 66% and Southern blotting by 36%. The majority of centres (60%) offer NGS for all patients that fulfil criteria for NMD of genetic origin. Pipelines for NGS vary amongst centres, even within the same national system. Referral of patients to genetic laboratories by specialists was frequently reported (58%), and 65% of centres participates in genetic testing QAs. We specifically evaluated how many centres cover SMA, DMD, Pompe, LGMDs, and TTR genes/diseases genetic diagnosis, since these rare diseases benefit from personalised therapies. We used the Orphanet EUGT numbers, provided by 82% of HCPs. SMA, DMD, LGMD, TTR and GAA genes are covered by EUGTs although with different numbers and modalities. The number of genetic tests for NMDs offered across HCPs National Health systems is quite high, including routine techniques and NGS. The number and type of tests offered and the clinical practices differ among centres. We provided evidence that survey tools might be useful to learn about the state-of-the-art of ERN health-related activities and to foster harmonisation and standardisation of the complex care for the rare disease patients in the EU.
遗传性神经肌肉疾病（NMDs）的基因诊断具有挑战性，因为它们具有临床和遗传异质性。我们在 EURO-NMD 欧洲参考网络（ERN）内开展了一项在线调查，以收集有关 61 个 ERN 医疗保健提供者（HCP）中遗传检测的可用性/分布信息。设计了一个包含 17 个项目的问卷，以解决所使用的方法、可用的遗传检测数量、获得遗传检测的临床途径、下一代测序（NGS）的使用以及参与质量评估计划（QA）的问题。相当多的 HCP（49%）每年提供≥500 种遗传检测，43.6%每年提供 100-500 种遗传检测，7.2%每年提供≤100 种遗传检测。94%的中心使用 NGS，84%的中心使用 Sanger 测序，66%的中心使用 MLPA，36%的中心使用 Southern blot。大多数中心（60%）为所有符合遗传起源 NMD 标准的患者提供 NGS。即使在同一国家系统内，中心之间的 NGS 流程也存在差异。专家经常向遗传实验室转介患者（58%），65%的中心参与遗传检测 QA。我们特别评估了有多少中心涵盖 SMA、DMD、Pompe、LGMD 和 TTR 基因/疾病的遗传诊断，因为这些罕见疾病受益于个性化治疗。我们使用了由 82%的 HCP 提供的 Orphanet EUGT 编号。尽管数量和方式不同，但 SMA、DMD、LGMD、TTR 和 GAA 基因都被 EUGT 覆盖。HCP 国家卫生系统提供的 NMD 遗传检测数量相当高，包括常规技术和 NGS。各中心提供的检测数量和类型以及临床实践存在差异。我们提供的证据表明，调查工具可能有助于了解 ERN 与健康相关活动的最新情况，并促进欧盟罕见病患者复杂护理的协调和标准化。
