Funanage Vicky L
Executive Director, Research, Nemours Children's Health.
Dela J Public Health. 2021 Dec 15;7(5):10-11. doi: 10.32481/djph.2021.12.005. eCollection 2021 Dec.
Advances in the field of human genetics over the past three decades have led to improvements in human health through development and availability of novel genetic testing approaches for diagnosis, prognosis, treatment therapy, safety, preventive screening and population-based risk assessment. In this commentary, I highlight the current landscape of genetic testing in Delaware with a focus on the genetic etiology and molecular diagnosis of pediatric disease, tailored treatment efficacy and safety through novel clinical trials and pharmacogenomics, and training in the application of genomic approaches to rare and common diseases. Future opportunities include integrating application of genetic information into clinical practice, improving genetics education, focusing on disparities and access, and advancing genomics and digital health technologies.
在过去三十年里，人类遗传学领域的进展通过开发和应用用于诊断、预后、治疗、安全性、预防性筛查及基于人群的风险评估的新型基因检测方法，改善了人类健康状况。在这篇评论中，我重点介绍了特拉华州基因检测的现状，内容涉及儿科疾病的遗传病因和分子诊断、通过新型临床试验和药物基因组学实现的个性化治疗疗效与安全性，以及针对罕见病和常见疾病应用基因组学方法的培训。未来的机遇包括将基因信息的应用整合到临床实践中、加强遗传学教育、关注差异与可及性，以及推动基因组学和数字健康技术的发展。
