相关实验视频

Updated: Jan 7, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

增加对具有特定疾病专业知识的遗传顾问的访问:开发一个集中式囊性纤维化遗传咨询远程医疗模型的开发

Elinor Langfelder-Schwind¹, Melissa Basile², Rachel Moyal-Smith³

¹Northwell, New Hyde Park, NY and Department of Pulmonary, Critical Care and Sleep Medicine, Lenox Hill Hospital, New York, New York, USA.

Pediatric pulmonology

|December 26, 2025

概括

对囊性纤维化 (CF) 遗传咨询的新远程医疗服务改善了获得护理的机会. 这种CF特异性遗传咨询远程医疗 (CFgc-T) 模式受到患者和提供者的青,解决了劳动力短缺问题.

科学领域:

遗传学和基因组学在
远程医疗服务是远程医疗服务.
医疗保健提供医疗保健提供

背景情况:

基因和基因组测试在临床实践中越来越多地使用.
获得遗传咨询师 (GC) 的机会有限,而且需求很高.
需要一种新的,公平的解决方案来应对这些挑战.

研究的目的:

收集社区对集中化囊性纤维化特异性遗传咨询远程医疗服务 (CFgc-T) 的反.
确定实施CFgc-T模型的障碍和促进因素.
为设计一个可扩展和公平的遗传咨询服务提供信息.

主要方法:

与各种利益相关者进行了虚拟聚焦小组,包括提供商,转介者,消费者和付款人.
副本是使用演和归纳方法编码的.
实施研究综合框架 (CFIR) 指导了对障碍和促进因素的评估.
分享了CFgc-T模型的视频描述,并通过调查从临床医生和消费者收集了反.

主要成果:

利益相关者支持CF特定的遗传咨询,强调灵活性,可用性和解决系统性障碍.
消费者希望准确,易于理解的信息,并愿意为可访问的服务共同支付费用.
临床医生对试点站点表现出兴趣 (58%),消费者很可能会推其他人 (96%).
担忧包括通过远程医疗讨论敏感话题,技术障碍和成本.

结论:

具有CF专业知识的集中CFgc-T服务可以增强对遗传咨询的公平获取.
远程医疗服务可以缓解专业遗传咨询方面的劳动力短缺.
CFgc-T模型受到好评,为CF护理提供了一个可扩展,公平的解决方案.

关键词:

在CFTR中,CFTR是最重要的.囊性纤维化症是什么遗传咨询遗传咨询遗传咨询远程医疗服务是远程医疗服务.

更多相关视频

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

相关概念视频

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Cystic Fibrosis: Management

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...