Stalker H J, Wilson R, McCune H, Gonzalez J, Moffett M, Zori R T
Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA.
J Telemed Telecare. 2006;12(4):182-5. doi: 10.1258/135763306777488762.
We used telemedicine to improve genetics services to patients in the rural northwestern region of Florida. Patients were first seen via videoconference by a genetic counsellor, who obtained family and medical history. A local paediatrician then performed the physical examination, and a plan for evaluation was established. The videoconferencing equipment was connected at a bandwidth of 384 kbit/s, using three ISDN lines. During the first three telemedicine clinics, seven patients were evaluated and then returned to the centre for a face-to-face consultation with the clinical geneticist. No new diagnoses were made face-to-face that had not been identified by telemedicine. No diagnoses made by telemedicine were judged to be wrong when the child was evaluated face-to-face. During a two-year study of patient satisfaction with 12 telegenetics clinics, the 50 families evaluated via videoconferencing were asked to complete surveys; 40 surveys were returned (a response rate of 80%). All individuals either strongly agreed or agreed that the evaluation of their child was appropriate, sufficient and sufficiently protective of their child's privacy. The waiting time for a new patient consultation with the clinical genetics team was 16.9 months (SD 1.9) at the start and 3.0 months (SD 1.0) at the end of the trial period. The difference was significant (t-test, P < 0.0001). Telegenetics allows more rapid assurance that a genetic syndrome has not been identified, or a quicker initial evaluation and diagnosis for children who do have an identifiable genetic syndrome.
我们利用远程医疗改善了佛罗里达州西北部农村地区患者的遗传学服务。患者首先通过视频会议由遗传咨询师接诊，遗传咨询师获取家族病史和个人病史。然后由当地儿科医生进行体格检查，并制定评估计划。视频会议设备通过三条综合业务数字网（ISDN）线路以384千比特/秒的带宽连接。在前三次远程医疗门诊中，对7名患者进行了评估，随后他们返回中心与临床遗传学家进行面对面咨询。面对面咨询时未做出远程医疗未发现的新诊断。当对患儿进行面对面评估时，远程医疗做出的诊断没有被判定为错误。在一项为期两年的关于12次远程遗传学门诊患者满意度的研究中，通过视频会议接受评估的50个家庭被要求完成调查问卷；共收回40份问卷（回复率为80%）。所有受访者均强烈同意或同意对其孩子的评估是恰当、充分的，且充分保护了孩子的隐私。在试验期开始时，新患者与临床遗传学团队的会诊等待时间为16.9个月（标准差1.9），而在试验期结束时为3.0个月（标准差1.0）。差异具有统计学意义（t检验，P<0.0001）。远程遗传学能够更快地确定未发现遗传综合征，或者为确实患有可识别遗传综合征的儿童更快地进行初步评估和诊断。
