从传统到转变:临床遗传学护理的演变模式。

IF 2.5 3区 医学 Q2 PEDIATRICS
Helen Curd, Anita Gorrie, Andrew Paul Fennell
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引用次数: 0

摘要

综述目的:基因组学与主流医疗保健的整合正在将临床遗传学转变为现代医学的基础组成部分。本综述探讨了临床遗传学服务提供的演变,强调了旨在满足不断增长的需求、改善获取和确保公平、以患者为中心的基因组护理的不断发展的护理模式。讨论的主要护理模式包括多学科团队方法、嵌入式遗传咨询师、高级实践提供者、高技能的非遗传学专家、基于实验室的遗传学临床医生、遗传保健的初级保健提供者和自动化/患者导向模型。还讨论了教育需求、资金和辅助工具(如遗传助理、协作远程遗传和数字工具)在支持可持续实施方面的作用。摘要:我们建议卫生组织通过创建基因组医学治理框架、评估工作人员能力、定义患者队列和审查其基础设施准备情况来制定基因组医学路线图。没有一种护理模式适合所有情况。通过明确定义需求、承认限制和识别潜在风险,组织可以选择最合适的模型来处理当前和未来的需求。随着基因组学越来越多地嵌入到日常护理中,我们相信,一种协调的、基于证据的方法对于确保在不同的医疗保健环境中提供良好的耐受性、有效性、可及性、公平和可持续的基因组医学至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
From tradition to transformation: evolving models of care in clinical genetics.

Purpose of review: The integration of genomics into mainstream healthcare is transforming clinical genetics into a foundational component of modern medicine. This review explores the evolution of clinical genetics service delivery, highlighting evolving models of care designed to meet rising demand, improve access, and ensure equitable, patient-centered genomic care.

Recent findings: Key models of care discussed include multidisciplinary team approaches, embedded genetic counselors, advanced practice providers, upskilled non-genetics specialists, laboratory-based genetics clinicians, primary care providers of genetic healthcare and automated/patient-directed models. Educational needs, funding and adjuncts such as genetic assistants, collaborative telegenetics, and digital tools are also discussed for their role in supporting sustainable implementation.

Summary: We recommend health organizations develop a roadmap for genomic medicine through creation of a genomic medicine governance framework, assessment of workforce capacity, definition of patient cohorts, and reviewing their infrastructure readiness. No single model of care is suitable for every context. By clearly defining needs, acknowledging limitations, and identifying potential risks, organizations can select the most appropriate models to address both current and future requirements. As genomics becomes increasingly embedded in routine care, we believe a coordinated, evidence-based approach is essential to ensure well tolerated, effective, accessible, equitable, and sustainable delivery of genomic medicine across diverse healthcare settings.

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来源期刊
CiteScore
6.20
自引率
0.00%
发文量
184
审稿时长
6-12 weeks
期刊介绍: ​​​​​Current Opinion in Pediatrics is a reader-friendly resource which allows the reader to keep up-to-date with the most important advances in the pediatric field. Each issue of Current Opinion in Pediatrics contains three main sections delivering a diverse and comprehensive cover of all key issues related to pediatrics; including genetics, therapeutics and toxicology, adolescent medicine, neonatology and perinatology, and orthopedics. Unique to Current Opinion in Pediatrics is the office pediatrics section which appears in every issue and covers popular topics such as fever, immunization and ADHD. Current Opinion in Pediatrics is an indispensable journal for the busy clinician, researcher or student.
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