Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy; Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.
Medical Genetics Unit, Department of Mother and Child, Sant'Anna University Hospital of Ferrara, Ferrara, Italy.
Eur J Med Genet. 2023 Jun;66(6):104749. doi: 10.1016/j.ejmg.2023.104749. Epub 2023 Mar 21.
Telemedicine provides healthcare services remotely and represents a fundamental resource for the management of rare and fragile patients. Tele-health implementation is a main objective of the European Reference Networks (ERNs) mission to accelerate diagnosis for rare diseases. TeleNewCARe is a pilot case-control project which evaluates the efficacy and satisfaction of telegenetics for neuromuscular and cardiac adult patients, compared to face-to-face genetic counselling. The virtual sessions were co-hosted by a medical geneticist and a neurologist/cardiologist. Specific questionnaires (Clinical Genetics Satisfaction Questionnaire (CGS), Telemedicine Satisfaction Questionnaire (TSQ) and a Satisfaction Questionnaire for medical geneticists) were used to assess the effectiveness and fulfilment of telecounselling, both for patients and health care providers. Satisfaction expressed for telegenetics did not significantly differ from face-to-face counselling. The virtually enrolled patients declared they had the possibility to relate confidentially with the specialists, to share information and to be informed in an exhaustive way about their disease. Almost all patients declared themselves willing to reuse the telecounselling in the future. The multidisciplinary care was perceived as a significant added value. No overt technical problems were reported although the need for digital skills and tools can limit patients' compliance. Our experience supports telegenetics as a valid alternative to traditional genetic counselling in cardiac and neuromuscular patients. This innovative approach facilitates multidisciplinary care, grants a periodical follow up, without forcing patients to discomfortable travelling, and allows to maintain expert care. This result meets the ERNs needs to reduce patients' burden to access and monitor their healthcare.
远程医疗提供远程医疗服务，是管理罕见和脆弱患者的基本资源。远程医疗的实施是欧洲参考网络（ERNs）的主要目标之一，旨在加速罕见病的诊断。TeleNewCARe 是一个试点病例对照项目，评估远程遗传学在神经肌肉和心脏成年患者中的疗效和满意度，与面对面的遗传咨询相比。虚拟会议由一名医学遗传学家和一名神经病学/心脏病学家共同主持。使用特定的问卷（临床遗传学满意度问卷（CGS）、远程医疗满意度问卷（TSQ）和医学遗传学家满意度问卷）评估远程咨询的效果和满足感，既针对患者又针对医疗保健提供者。远程遗传学的满意度与面对面咨询没有显著差异。远程注册的患者表示，他们有可能与专家进行保密联系，分享信息，并全面了解自己的疾病。几乎所有的患者都表示愿意在未来再次使用远程咨询。多学科护理被认为是一个重要的附加值。尽管数字技能和工具的需求可能会限制患者的依从性，但没有报告明显的技术问题。我们的经验支持远程遗传学作为心脏和神经肌肉患者传统遗传咨询的有效替代方案。这种创新方法促进了多学科护理，提供了定期的随访，而不会迫使患者进行不舒服的旅行，并允许维持专家护理。这一结果满足了 ERNs 减少患者负担以获得和监测其医疗保健的需求。
