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远程遗传学:远程医疗在遗传学服务中的系统评价。

Telegenetics: a systematic review of telemedicine in genetics services.

机构信息

Institute of Medical Genetics, Cardiff University, Cardiff, UK.

出版信息

Genet Med. 2012 Sep;14(9):765-76. doi: 10.1038/gim.2012.40. Epub 2012 Apr 12.

Abstract

PURPOSE

Telemedicine is being increasingly used in many areas of health care, particularly to reduce the barriers that rural populations face in accessing health-care services. Telemedicine may also be effectively utilized in clinical genetics services-an application that has been termed "telegenetics."

METHODS

A systematic review of the literature was conducted to identify studies of genetic consultations carried out through videoconferencing so as to determine whether conclusions can be drawn about the value of telegenetics. A total of 14 articles reporting data from 12 separate studies met the inclusion criteria.

RESULTS

In a majority of these studies, patients received their telegenetics consultation at a local clinic or outreach center, from where they communicated via a synchronous video link with a genetics practitioner. All the studies reported high levels of patient satisfaction with telegenetics, and patients were generally more receptive to telegenetics than the genetics practitioners were. The studies had limitations of small sample sizes and lack of statistical analyses.

CONCLUSIONS

This review suggests that telegenetics may be a useful tool for providing routine counseling and has the potential to evaluate pediatric patients with suspected genetic conditions. Prospective, fully powered studies of telegenetics that explore the accuracy of diagnoses and patient outcomes are needed to allow informed decisions to be made about the appropriate use of telemedicine in genetics service delivery.

摘要

目的

远程医疗正在被越来越多地应用于医疗保健的许多领域,特别是为了减少农村人口在获得医疗服务方面面临的障碍。远程医疗也可以有效地应用于临床遗传学服务——这一应用被称为“远程遗传学”。

方法

我们进行了系统的文献回顾,以确定通过视频会议进行的遗传咨询研究,从而确定是否可以得出关于远程遗传学价值的结论。共有 14 篇文章从 12 项单独的研究中报告了数据,符合纳入标准。

结果

在这些研究中,大多数患者在当地诊所或外展中心接受远程遗传学咨询,他们通过同步视频链接与遗传医生进行交流。所有研究都报告了患者对远程遗传学的高度满意度,而且患者通常比遗传医生更容易接受远程遗传学。这些研究的局限性在于样本量小且缺乏统计分析。

结论

这项综述表明,远程遗传学可能是提供常规咨询的有用工具,并且有可能评估疑似遗传疾病的儿科患者。需要进行前瞻性、充分加权的远程遗传学研究,以探索诊断的准确性和患者的结局,从而能够就远程医疗在遗传学服务中的适当应用做出明智的决策。

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