There is a shortage of genetics providers worldwide and access is limited to large academic centers. Telemedicine programs can facilitate access to genetic services to patients living in remote locations. The goal of this study was to improve access to genetic services in the Dominican Republic by creating a partnership model between a pediatrician and geneticist. This approach has been used within the United States but not in the setting of two different countries, healthcare system, and cultures. Patients were referred to the Centro de Obstetricia y Ginecologia program if a syndromic or genetic etiology was suspected by their local provider. Pediatrician first evaluated all patients prior to telemedicine appointment to review family and medical history. All genetic visits were scheduled within 2 weeks of referral in collaboration with telehealth program at Cincinnati Children's Hospital Medical Center. A total of 66 individuals were evaluated during a period of 5 years. Fifty‐seven individuals underwent genetic studies, and a molecular diagnosis was made in 39 individuals. Exome sequencing was the most common first line test when differential diagnosis was broad (n = 40). The most common inheritance was autosomal recessive in 15 individuals, followed by 13 individuals with autosomal dominant disorders, 7 individuals X‐linked disorders, and 4 individuals with chromosomal abnormalities. This study provides data to support utility of geneticist and pediatrician partnership to provide outreach telemedicine diagnostics and management services for rare diseases in an international setting.

中文翻译：

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用于诊断遗传性疾病的国际远程医疗计划：儿科医生和遗传学家的合作


全世界都缺乏遗传学提供者，并且仅限于大型学术中心。远程医疗项目可以帮助生活在偏远地区的患者获得遗传服务。这项研究的目标是通过在儿科医生和遗传学家之间建立合作伙伴关系模型，改善多米尼加共和国获得遗传服务的机会。这种方法已在美国境内使用，但并未在两个不同国家、医疗保健系统和文化的环境中使用。如果当地医疗服务提供者怀疑患者患有综合征或遗传病因，则患者会被转诊至产科和妇科中心项目。在远程医疗预约之前，儿科医生首先对所有患者进行评估，以回顾家族史和病史。所有基因就诊均在转诊后两周内与辛辛那提儿童医院医疗中心的远程医疗项目合作安排。 5 年期间共有 66 人接受了评估。 57 人接受了基因研究，并对 39 人进行了分子诊断。当鉴别诊断广泛时，外显子组测序是最常见的一线测试（ n = 40）。最常见的遗传是常染色体隐性遗传，有 15 名个体，其次是 13 名常染色体显性遗传疾病、7 名 X 连锁疾病和 4 名染色体异常个体。这项研究提供的数据支持遗传学家和儿科医生合作伙伴关系的实用性，以在国际环境中为罕见疾病提供外展远程医疗诊断和管理服务。