A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team
A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team
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DOI：
10.1038/gim.2017.45
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发表时间：
2017-11-01
影响因子：
8.8
通讯作者：
Schaefer, Gerald Bradley
中科院分区：
文献类型：
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作者：
Kubendran, Shobana;Sivamurthy, Siddharthan;Schaefer, Gerald Bradley
目的：我们的目的是通过与儿科医生、医学遗传学家和遗传学顾问(GC)合作开发远程遗传服务交付模式，以改善服务不足地区获得遗传服务的机会。方法：制定评估常见遗传适应症的方案。有症状病因学提示的患者被安排通过远程遗传学直接去看遗传学家。其他患者被安排在与遗传学家进行随访之前亲自去看儿科医生和GC，如果有必要的话。列举了遗传学家和/或儿科医生/GC看过的患者，并跟踪了下一个可用的预约。结果：在研究期间接受评估的265名患者中，116名(44%)首先由儿科医生和GC亲自进行评估，之后82名(71%)需要与遗传学家进行进一步的随访。下一次预约儿科医生和GC的时间从未超过6周，而与遗传学家的新预约时间从3个月到9个月不等。所有患者对这种遗传服务模式的满意度都很高。结论：儿科医生/GC诊所提供了一种作为医疗家庭邻居的协作式护理模式，并体现了遗传学与初级保健的整合。远程遗传学诊所为长期服务不足地区的患者提供了一个可行的解决方案，为他们提供了合格和方便的遗传学家。
Purpose: Our aim was to improve access to genetic services in an underserved region by developing a collaborative telegenetic service delivery model with a pediatrician, medical geneticist, and genetics counselor (GC).Methods: Protocols for the evaluation of common genetic indications were developed. Patients referred with indications suggestive of a syndromic etiology were scheduled to see the geneticist directly via telegenetics. Other patients were scheduled to see the pediatrician and GC in person before follow-up with the geneticist if indicated. Patients seen by the geneticist and/or pediatrician/GC were enumerated and the next available appointment was tracked. Patient satisfaction surveys were conducted.Results: Of the 265 patients evaluated during the study period, 116 (44%) were evaluated by a pediatrician and GC in person first, after which 82 (71% of those evaluated) required further follow-up with the geneticist. The next available appointment with a pediatrician and GC never exceeded 6 weeks, while new appointments with a geneticist ranged from 3 to 9 months. All patients reported high satisfaction with this genetic service model.Conclusion: The pediatrician/GC clinic provides a model of collaborative care that is a medical home neighbor and exemplifies the integration of genetics into primary care. The telegenetics clinic offers a viable solution to providing competent and convenient access to a geneticist for patients in chronically underserved regions.