Under-referral of Plain community members for genetic services despite being qualified for genetic evaluation.
Under-referral of Plain community members for genetic services despite being qualified for genetic evaluation.
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尽管有资格获得遗传评估，但普通社区成员的转诊率是基因服务。
DOI：
10.1002/jgc4.1395
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发表时间：
2021-08
影响因子：
1.9
通讯作者：
Ghaloul-Gonzalez L
中科院分区：
文献类型：
--
作者：
Ehrenberg S;Walsh Vockley C;Nelson E;Baker J;Arcieri M;Lindenberger J;Ghaloul-Gonzalez L
平原社区的人（阿米什人和门诺派教徒）有隐性遗传疾病的风险增加。这项研究的目的是评估在匹兹堡UPMC儿童医院遗传服务的普通人的转介率。审查了1年时间段内的普通患者的病历。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，102名（33.7%）有遗传性疾病的临床表现，但只有32名（31.4%）接受了医学遗传学部门的评估。这些数据表明，只有不到一半的临床表现提示遗传性疾病的普通患者被转介到医学遗传学部门进行正式评估。既然已经确认了平原病人的转诊不足，可以对提供者进行教育，以增加遗传服务的转诊，并促进平原社区的积极保健结果。
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.
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影响因子：
1.9
作者：
通讯作者：
--
DOI：
10.1002/ajmg.c.20002
发表时间：
2003-08-15
影响因子：
3.1
作者：
Morton, DH;Morton, CS;Kelley, RI
通讯作者：
Kelley, RI
影响因子：
1.9
作者：
Scott Schwoerer J;Clowes Candadai S;Held PK
通讯作者：
Held PK
DOI：
10.1002/ajmg.1320410122
发表时间：
1991-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
MORTON, DH;BENNETT, MJ;KELLEY, RI
通讯作者：
KELLEY, RI
影响因子：
5.9
作者：
Sieren, Shelby;Grow, Meghan;Seroogy, Christine M.
通讯作者：
Seroogy, Christine M.