School Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
J Genet Couns. 2021 Aug;30(4):1084-1090. doi: 10.1002/jgc4.1395. Epub 2021 Apr 4.
Plain community people (Amish and Mennonites) have increased risk of having recessive genetic disorders. This study was designed to assess the rate of referral of Plain people to genetic services at UPMC Children's Hospital of Pittsburgh. Medical records of Plain patients from a 1-year time period were reviewed. Data collected included demographic information, clinical presentation, referral for genetic services, and diagnosis. Of the 303 patients, 102 (33.7%) had a clinical presentation suggestive of a genetic disorder, yet only 32 of those 102 patients (31.4%) had been evaluated by the division of Medical Genetics. These data indicate that less than half of Plain patients with a clinical presentation suggestive of a genetic disorder had been referred to the division of Medical Genetics for a formal evaluation. Now that under-referral of Plain patients has been confirmed, providers can be educated in order to increase referrals for genetic services and facilitate positive healthcare outcomes for the Plain Community.
普通社区人群（阿米什人和门诺派教徒）患有隐性遗传疾病的风险增加。本研究旨在评估匹兹堡大学医学中心儿童医院向 Plain 人群提供遗传服务的转诊率。回顾了为期 1 年的 Plain 患者的医疗记录。收集的数据包括人口统计学信息、临床表现、遗传服务转诊和诊断。在 303 名患者中，有 102 名（33.7%）的临床表现提示遗传疾病，但只有 102 名患者中的 32 名（31.4%）接受了医学遗传学部门的评估。这些数据表明，不到一半的临床表现提示遗传疾病的 Plain 患者被转诊到医学遗传学部门进行正式评估。既然已经证实 Plain 患者的转诊不足，那么可以对提供者进行教育，以增加遗传服务的转诊，并为 Plain 社区带来积极的医疗保健结果。
