打破障碍:通过创新的护理模式和技术促进儿科基因组学的公平获取。

IF 3.1 3区 医学 Q1 PEDIATRICS
Sabrina Malone Jenkins, Rachel Palmquist, Brian J Shayota, Chelsea M Solorzano, Joshua L Bonkowsky, Paul Estabrooks, Martin Tristani-Firouzi
{"title":"打破障碍:通过创新的护理模式和技术促进儿科基因组学的公平获取。","authors":"Sabrina Malone Jenkins, Rachel Palmquist, Brian J Shayota, Chelsea M Solorzano, Joshua L Bonkowsky, Paul Estabrooks, Martin Tristani-Firouzi","doi":"10.1038/s41390-025-03859-8","DOIUrl":null,"url":null,"abstract":"<p><p>The integration of genomic medicine into pediatric clinical practice is a critical need that remains largely unmet, especially in socioeconomically challenged and rural areas where healthcare disparities are most pronounced. This review seeks to summarize the barriers responsible for delayed diagnosis and treatment, and examines diverse care models, technological innovations, and strategies for dissemination and implementation aimed at addressing the evolving genomic needs of pediatric populations. Through a comprehensive review of the literature, we explore proposed methodologies to bridge this gap in pediatric healthcare, with a specific emphasis on understanding and speeding implementation approaches and technologies to mitigate disparities in underserved populations, including rural and marginalized communities. There are both external and internal factors to consider in demographic and social determinants when evaluating patient access. To address these barriers, potential solutions include telegenetic services, alternative care delivery models, pediatric subspecialist expansion, and non-genetic provider education. By improving access to pediatric genomic services, therapeutic interventions will also be more available to all pediatric patients. IMPACT STATEMENT: Genomic testing has clinical utility in pediatric populations but access for people from diverse demographic and social-economic groups is problematic. Understanding barriers responsible for delayed genetic diagnosis and treatment in pediatric populations will improve reach, adoption, implementation, and maintenance of genomic medicine in pediatric healthcare context. Innovative care models, adaptation of appropriate technologies, and strategies aimed at addressing pediatric genomic needs are needed.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies.\",\"authors\":\"Sabrina Malone Jenkins, Rachel Palmquist, Brian J Shayota, Chelsea M Solorzano, Joshua L Bonkowsky, Paul Estabrooks, Martin Tristani-Firouzi\",\"doi\":\"10.1038/s41390-025-03859-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The integration of genomic medicine into pediatric clinical practice is a critical need that remains largely unmet, especially in socioeconomically challenged and rural areas where healthcare disparities are most pronounced. This review seeks to summarize the barriers responsible for delayed diagnosis and treatment, and examines diverse care models, technological innovations, and strategies for dissemination and implementation aimed at addressing the evolving genomic needs of pediatric populations. Through a comprehensive review of the literature, we explore proposed methodologies to bridge this gap in pediatric healthcare, with a specific emphasis on understanding and speeding implementation approaches and technologies to mitigate disparities in underserved populations, including rural and marginalized communities. There are both external and internal factors to consider in demographic and social determinants when evaluating patient access. To address these barriers, potential solutions include telegenetic services, alternative care delivery models, pediatric subspecialist expansion, and non-genetic provider education. By improving access to pediatric genomic services, therapeutic interventions will also be more available to all pediatric patients. IMPACT STATEMENT: Genomic testing has clinical utility in pediatric populations but access for people from diverse demographic and social-economic groups is problematic. Understanding barriers responsible for delayed genetic diagnosis and treatment in pediatric populations will improve reach, adoption, implementation, and maintenance of genomic medicine in pediatric healthcare context. Innovative care models, adaptation of appropriate technologies, and strategies aimed at addressing pediatric genomic needs are needed.</p>\",\"PeriodicalId\":19829,\"journal\":{\"name\":\"Pediatric Research\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2025-01-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1038/s41390-025-03859-8\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41390-025-03859-8","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0

摘要

将基因组医学整合到儿科临床实践中是一项重大需求,但在很大程度上仍未得到满足,特别是在社会经济困难和医疗差距最明显的农村地区。本综述旨在总结导致诊断和治疗延迟的障碍,并探讨旨在解决儿科人群不断变化的基因组需求的各种护理模式、技术创新以及传播和实施策略。通过对文献的全面回顾,我们探讨了弥合儿科医疗差距的建议方法,特别强调理解和加快实施方法和技术,以减轻服务不足人群(包括农村和边缘化社区)的差距。在评估患者可及性时,人口和社会决定因素需要考虑外部和内部因素。为了解决这些障碍,潜在的解决方案包括远程遗传服务、替代护理提供模式、儿科专科扩展和非遗传提供者教育。通过改善获得儿科基因组服务的机会,所有儿科患者也将更容易获得治疗干预措施。影响声明:基因组检测在儿科人群中具有临床效用,但对于来自不同人口统计学和社会经济群体的人群的获取是有问题的。了解造成儿科人群基因诊断和治疗延迟的障碍,将提高儿科医疗环境中基因组医学的覆盖面、采用、实施和维护。需要创新的护理模式,适应适当的技术,以及旨在解决儿科基因组需求的战略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies.

The integration of genomic medicine into pediatric clinical practice is a critical need that remains largely unmet, especially in socioeconomically challenged and rural areas where healthcare disparities are most pronounced. This review seeks to summarize the barriers responsible for delayed diagnosis and treatment, and examines diverse care models, technological innovations, and strategies for dissemination and implementation aimed at addressing the evolving genomic needs of pediatric populations. Through a comprehensive review of the literature, we explore proposed methodologies to bridge this gap in pediatric healthcare, with a specific emphasis on understanding and speeding implementation approaches and technologies to mitigate disparities in underserved populations, including rural and marginalized communities. There are both external and internal factors to consider in demographic and social determinants when evaluating patient access. To address these barriers, potential solutions include telegenetic services, alternative care delivery models, pediatric subspecialist expansion, and non-genetic provider education. By improving access to pediatric genomic services, therapeutic interventions will also be more available to all pediatric patients. IMPACT STATEMENT: Genomic testing has clinical utility in pediatric populations but access for people from diverse demographic and social-economic groups is problematic. Understanding barriers responsible for delayed genetic diagnosis and treatment in pediatric populations will improve reach, adoption, implementation, and maintenance of genomic medicine in pediatric healthcare context. Innovative care models, adaptation of appropriate technologies, and strategies aimed at addressing pediatric genomic needs are needed.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Pediatric Research
Pediatric Research 医学-小儿科
CiteScore
6.80
自引率
5.60%
发文量
473
审稿时长
3-8 weeks
期刊介绍: Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of children''s diseases and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信