PDF(Pubmed)
Abstract：
The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our multidisciplinary team followed by discussions on diagnosis, prognosis, and genetic testing. Testing approaches are specific to each patient and can be targeted (single-gene, gene panel), broad (chromosomal microarray, whole-exome sequencing), or a combination. We hypothesize that this clinic model improves patient outcomes and quality of care. A retrospective chart review of patients in the MOGC from July 2020 to October 2022 revealed that the most common referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with 52% syndromic cases. Within this patient cohort, we saw a 76% uptake for genetic testing, among which 33% received a diagnostic test result. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics.
摘要：
密歇根大学凯洛格眼科中心的多学科眼科遗传学诊所（MOGC）旨在为患有遗传性眼部疾病的患者提供医疗和眼科遗传学护理。我们开发了一个临床和转诊工作流程，每个患者都经过我们的多学科团队的协调评估，然后讨论诊断。预后,和基因检测。测试方法对每个患者都有特异性，并且可以有针对性（单基因，基因面板)，广泛(染色体微阵列，全外显子组测序)，或组合。我们假设这种临床模型可以改善患者的预后和护理质量。2020年7月至2022年10月MOGC患者的回顾性图表回顾显示，最常见的转诊诊断是先天性白内障，视神经病变,和小眼症，有52%的综合征病例。在这个患者队列中，我们看到76%的基因检测，其中33%收到诊断测试结果。我们的结果支持针对特定条件的遗传测试的量身定制方法。通过案例，我们强调我们诊所的力量和影响。通过将眼科护理与医学遗传学和咨询相结合，MOGC不仅帮助解决了个体患者的诊断挑战,而且帮助了更多的人群进行新的遗传发现和靶向治疗的研究.
