加快工作流程自闭症谱系障碍在儿科遗传学诊所。

IF 1.5 Q4 GENETICS & HEREDITY
Claire Barton, Gauri Anand, Jodi Hoffman
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引用次数: 0

摘要

随着对遗传服务的需求不断增加,以及美国医学遗传学与基因组学学院(ACMG)建议对自闭症谱系障碍(ASD)和发育迟缓患者进行遗传评估,需要替代的遗传护理服务模式来提高效率。基于网络的工具增强了获得临床遗传学内容和服务的途径,特别是对于有ASD等常见转诊指征的患者。波士顿医学中心儿科遗传学诊所报告了快速自闭症谱系障碍遗传学诊所(EAGC)的创建,该诊所包括候诊室问卷调查、教育视频、身体检查和基因测试的血液工作。这段教育视频是用英语和西班牙语制作的,反映了自闭症谱系障碍典型遗传学访问的基因测试教育内容。由于EAGC允许每次门诊就诊的患者更多,ICD-10 F84.0 (ASD)就诊人数从2022年10月至12月的18例增加到2023年10月至12月的32例。与所有新患者相比,EAGC中ASD患者从转诊到首次预约日期的天数也显着减少,无论转诊原因如何,从2022年10月到12月([公式:见文本])。asd相关基因检测预约等待时间的减少增加了这一患者群体获得遗传学服务的机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Expedited workflow for autism spectrum disorder in a pediatric genetics clinic.

With increasing demand for access to genetic services and the American College of Medical Genetics and Genomics' (ACMG) recommendation that individuals with autism spectrum disorder (ASD) and developmental delay be offered genetic evaluation, alternative service models for genetic care are needed to increase efficiency. Web-based tools have enhanced access to clinical genetics content and services, particularly for patients with common referral indications such as ASD. The Boston Medical Center pediatric genetics clinic reports on the creation of an Expedited ASD Genetics Clinic (EAGC) which includes a waiting room questionnaire, educational video, physical examination, and blood work for genetic testing. The educational video, created in English and Spanish, mirrors the genetic testing educational content of a typical genetics visit for ASD. As the EAGC allows for more patients to be seen per clinic session, the number of visits with ICD-10 F84.0 (ASD) increased from 18 patients seen October to December 2022 to 32 patients seen October to December 2023. There was also a significant decrease between the number of days from referral to first offered appointment date for the patients with ASD seen in the EAGC compared to all new patients, regardless of referral reason, seen October to December 2022 ([Formula: see text]). This decreased wait time for an appointment for ASD-related genetic testing increases access to genetics services for this patient population.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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