Nieuwhof Karin, Birnie Erwin, van den Berg Maarten P, de Boer Rudolf A, van Haelst Paul L, van Tintelen J Peter, van Langen Irene M
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Eur J Hum Genet. 2017 Feb;25(2):169-175. doi: 10.1038/ejhg.2016.155. Epub 2016 Nov 30.
Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC. Uptake and resource use were recorded. For 189 participants, we evaluated quality of care experienced, patient satisfaction and perceived personal control (PPC) using validated questionnaires and estimated the average cost difference of these two modes of care. Maximum patient satisfaction scores were achieved more frequently at the CGC (86% vs 45%, P<0.01). In terms of follow-up care provided, the genetic counsellor did not perform worse than the cardiologist (95% vs 59%, P<0.01). The genetic counsellor more often enquired about the relative-at risk's health (100% vs 65%, P<0.01) and family health (97% vs 33%, P<0.01), measured blood pressure (98% vs 29%, P<0.01) and gave disease-specific information (77% vs 52%, P<0.01). Although PPC scores were equal in both groups, the average cost per patient of CGC follow-up was 25% lower. Follow-up of phenotype-negative relatives at risk for DCM/HCM at a CGC led to greater patient satisfaction and is well-appreciated at lower cost. CGC care is a good alternative to conventional cardiological follow-up for this growing group of patients.
根据美国心脏病学会/欧洲心脏病学会（ACC/ESC）指南，越来越多有患扩张型或肥厚型心肌病（DCM/HCM）风险的患者亲属被心脏病专家识别并进行随访。然而，鉴于医疗资源有限，需要高质量、低成本的替代方法。因此，我们比较了心脏病专家进行的传统随访与由遗传咨询师主导的心脏遗传学诊所（CGC）提供的随访。有DCM/HCM风险的表型阴性一级亲属被随机分配去看心脏病专家或参加CGC。记录了参与情况和资源使用情况。对于189名参与者，我们使用经过验证的问卷评估了所体验到的护理质量、患者满意度和感知的个人控制感（PPC），并估计了这两种护理模式的平均成本差异。在CGC中更频繁地获得了最高患者满意度评分（86%对45%，P<0.01）。在提供的后续护理方面，遗传咨询师的表现并不比心脏病专家差（95%对59%，P<0.01）。遗传咨询师更经常询问有风险亲属的健康状况（100%对65%，P<0.01）和家族健康状况（97%对33%，P<0.01），测量血压（98%对29%，P<0.01）并提供疾病特异性信息（77%对52%，P<0.01）。虽然两组的PPC评分相等，但CGC随访的每位患者平均成本低25%。在CGC对有DCM/HCM风险的表型阴性亲属进行随访可提高患者满意度，且成本较低，很受欢迎。对于这一不断增加的患者群体，CGC护理是传统心脏病学随访的良好替代方案。
