背景:利用基因组信息改善健康状况在临床实践中逐渐变得越来越普遍。尽管如此,少数民族在获得遗传服务方面仍然存在差距,社会经济地位低的人,和其他弱势群体。德克萨斯州-墨西哥边境的里奥格兰德河谷(RGV)主要是西班牙裔/拉丁美洲人,贫困率很高,获得遗传服务的机会非常有限。由国家促进转化科学中心资助,项目GIVE(通过虚拟评估进行遗传纳入)于2022年启动,以减少诊断时间并增加该地区基因组学的提供者知识,以改善儿科健康结果为目标。我们描述了我们在该地区建立虚拟儿科基因组服务的经验,以迅速识别,招募,并评估患有未诊断疾病的儿科患者。
方法:我们利用了一种创新的电子健康记录(EHR)不可知的虚拟远程健康和教育平台Consultagene,在RGV中接受医疗保健提供者的转诊。使用这个门户,基因服务,包括虚拟评估和基因组测序(GS),正在运送给患有罕见疾病的儿童。该研究还整合了有效的方法,通过面对面的会议和继续专业教育(CPE)活动来参与和教育社区提供者。
结果:在这个医疗服务不足的地区,使用Consultagene的招聘工作被证明是非常成功的。随着时间的推移,该项目与当地医疗保健提供者的持续参与努力导致了越来越多的转介研究,从而改善RGV中基因组护理的纳入和获得。此外,策划的CPE内容受到了该地区医疗保健提供者的好评。
结论:项目GIVE研究允许通过虚拟咨询门户对GS进行高级遗传评估和交付,有效规避在该边界社区内获得遗传服务的公认社会经济和后勤障碍。
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.