Shillington Amelle, Lamy Martine, Dominick Kelli C, Sorter Michael, Erickson Craig A, Hopkin Robert
Cincinnati Children's Hospital Medical Center, Department of Human Genetics, Cincinnati, OH, United States.
Cincinnati Children's Hospital Medical Center Department of Psychiatry, Cincinnati, OH, United States.
Front Genet. 2022 Jun 13;13:901458. doi: 10.3389/fgene.2022.901458. eCollection 2022.
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for people with neurodevelopmental disorders. There are known barriers to care in accessing clinical genetics evaluation for this patient population. We created a collaborative psychiatric-genetics consultation service and psychiatric-genetics outpatient clinic with the goal to improve care delivery to patients with neurodevelopmental disorders. Two years after the launch of this pilot program, our data demonstrate improved access to genetics evaluation with shorter wait times and fewer patients lost to follow-up. Perhaps most importantly, new genetic diagnoses changed medical care for the majority of patients.
神经发育障碍,包括自闭症谱系障碍、智力残疾和全面发育迟缓,是转诊进行临床遗传学评估最常见的指征之一;临床遗传学检测适用于患有神经发育障碍的人群。对于这一患者群体而言,在获得临床遗传学评估方面存在已知的医疗障碍。我们创建了一个协作性的精神科-遗传学咨询服务和精神科-遗传学门诊,目标是改善对神经发育障碍患者的医疗服务。在这个试点项目启动两年后,我们的数据表明,获得遗传学评估的机会有所改善,等待时间缩短,失访患者减少。也许最重要的是,新的基因诊断改变了大多数患者的医疗护理。