GIVE 项目:利用虚拟遗传学服务平台,在得克萨斯州服务不足的地区减少健康不公平现象,改善基因组保健的获取途径

IF 4.1 2区 医学 Q1 CLINICAL NEUROLOGY Journal of Neurodevelopmental Disorders Pub Date : 2024-09-09 DOI:10.1186/s11689-024-09560-x
Blake Vuocolo, Roberta Sierra, Daniel Brooks, Christopher Holder, Lauren Urbanski, Keila Rodriguez, Jose David Gamez, Surya Narayan Mulukutla, Ana Hernandez, Alberto Allegre, Humberto Hidalgo, Sarah Rodriguez, Sandy Magallan, Jeremy Gibson, Juan Carlos Bernini, Melanie Watson, Robert Nelson, Lizbeth Mellin-Sanchez, Nancy Garcia, Lori Berry, Hongzheng Dai, Claudia Soler-Alfonso, Kent Carter, Brendan Lee, Seema R. Lalani
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引用次数: 0

摘要

在临床实践中,利用基因组信息改善健康状况的做法越来越普遍。然而,少数族裔、社会经济地位低下者和其他弱势群体在获得基因服务方面仍存在差距。位于得克萨斯州与墨西哥交界处的里奥格兰德河谷(RGV)主要是西班牙裔/拉美裔,贫困率高,获得遗传服务的机会非常有限。在国家促进转化科学中心(National Center for Advancing Translational Sciences)的资助下,GIVE 项目(通过虚拟评估纳入遗传学)于 2022 年启动,旨在缩短诊断时间,增加该地区医疗服务提供者对基因组学的了解,从而改善儿科健康状况。我们介绍了在该地区建立虚拟儿科基因组服务的经验,以快速识别、招募和评估患有未确诊疾病的儿科患者。我们利用一个名为 Consultagene 的创新型电子健康记录(EHR)虚拟远程医疗和教育平台,接收来自 RGV 医疗保健提供者的转介。利用这一门户网站,为患有罕见病的儿童提供基因服务,包括虚拟评估和基因组测序 (GS)。该研究还整合了有效的方法,通过面对面会议和继续专业教育 (CPE) 活动,让社区医疗服务提供者参与进来并接受教育。事实证明,在这个医疗服务不足的地区,利用 Consultagene 开展的招募工作非常成功。随着时间的推移,该项目与当地医疗服务提供者的持续接触使得更多的人转介到该研究中,从而提高了 RGV 地区基因组医疗的包容性和可及性。此外,策划的 CPE 内容也受到了该地区医疗服务提供者的欢迎。GIVE 项目研究允许通过虚拟 Consultagene 门户网站进行高级遗传评估和提供 GS,有效地规避了在这个边境社区获得遗传服务所面临的公认的社会经济和后勤障碍。
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Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas
The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist in accessing genetic services among ethnic minorities, individuals with low socioeconomic status, and other vulnerable populations. The Rio Grande Valley (RGV) at the Texas-Mexico border is predominantly Hispanic/Latino with a high poverty rate and very limited access to genetic services. Funded by the National Center for Advancing Translational Sciences, Project GIVE (Genetic Inclusion by Virtual Evaluation) was launched in 2022 to reduce the time to diagnosis and increase provider knowledge of genomics in this region, with the goal of improving pediatric health outcomes. We describe our experience of establishing a virtual pediatric genomic service in this region to expeditiously identify, recruit, and evaluate pediatric patients with undiagnosed diseases. We have utilized an innovative electronic health record (EHR) agnostic virtual telehealth and educational platform called Consultagene to receive referrals from healthcare providers in the RGV. Using this portal, genetic services, including virtual evaluation and genome sequencing (GS), are being delivered to children with rare diseases. The study has also integrated effective methods to involve and educate community providers through in-person meetings and Continuing Professional Education (CPE) events. The recruitment efforts have proven highly successful with the utilization of Consultagene in this medically underserved region. The project’s ongoing engagement efforts with local healthcare providers have resulted in progressively more referrals to the study over time, thus improving inclusion and access to genomic care in the RGV. Additionally, the curated CPE content has been well received by healthcare providers in the region. Project GIVE study has allowed advanced genetic evaluation and delivery of GS through the virtual Consultagene portal, effectively circumventing the recognized socioeconomic and logistical barriers to accessing genetic services within this border community.
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来源期刊
CiteScore
7.60
自引率
4.10%
发文量
58
审稿时长
>12 weeks
期刊介绍: Journal of Neurodevelopmental Disorders is an open access journal that integrates current, cutting-edge research across a number of disciplines, including neurobiology, genetics, cognitive neuroscience, psychiatry and psychology. The journal’s primary focus is on the pathogenesis of neurodevelopmental disorders including autism, fragile X syndrome, tuberous sclerosis, Turner Syndrome, 22q Deletion Syndrome, Prader-Willi and Angelman Syndrome, Williams syndrome, lysosomal storage diseases, dyslexia, specific language impairment and fetal alcohol syndrome. With the discovery of specific genes underlying neurodevelopmental syndromes, the emergence of powerful tools for studying neural circuitry, and the development of new approaches for exploring molecular mechanisms, interdisciplinary research on the pathogenesis of neurodevelopmental disorders is now increasingly common. Journal of Neurodevelopmental Disorders provides a unique venue for researchers interested in comparing and contrasting mechanisms and characteristics related to the pathogenesis of the full range of neurodevelopmental disorders, sharpening our understanding of the etiology and relevant phenotypes of each condition.
期刊最新文献
Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism. Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field. The utility of wearable electroencephalography combined with behavioral measures to establish a practical multi-domain model for facilitating the diagnosis of young children with attention-deficit/hyperactivity disorder. Early onset and increasing disparities in neurodevelopmental delays from birth to age 6 in children from low socioeconomic backgrounds. The effect of anxiety and autism symptom severity on restricted and repetitive behaviors over time in children with fragile X syndrome.
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