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一种主流的肿瘤基因组学模型:改善林奇综合征的识别

A mainstreaming oncogenomics model: improving the identification of Lynch syndrome.

作者信息

O'Shea Rosie, Crook Ashley, Jacobs Chris, Kentwell Maira, Gleeson Margaret, Tucker Katherine M, Hampel Heather, Rahm Alanna Kulchak, Taylor Natalie, Lewis Sarah, Rankin Nicole M

机构信息

Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Discipline of Genetic Counselling, Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia.

出版信息

Front Oncol. 2023 May 26;13:1140135. doi: 10.3389/fonc.2023.1140135. eCollection 2023.


DOI:10.3389/fonc.2023.1140135
PMID:37305562
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10256118/
Abstract

INTRODUCTION: "Mainstreaming" is a proposed strategy to integrate genomic testing into oncology. The aim of this paper is to develop a mainstreaming oncogenomics model by identifying health system interventions and implementation strategies for mainstreaming Lynch syndrome genomic testing. METHODS: A rigorous theoretical approach inclusive of conducting a systematic review and qualitative and quantitative studies was undertaken using the Consolidated Framework for Implementation Research. Theory-informed implementation data were mapped to the Genomic Medicine Integrative Research framework to generate potential strategies. RESULTS: The systematic review identified a lack of theory-guided health system interventions and evaluation for Lynch syndrome and other mainstreaming programs. The qualitative study phase included 22 participants from 12 health organizations. The quantitative Lynch syndrome survey included 198 responses: 26% and 66% from genetic and oncology health professionals, respectively. Studies identified the relative advantage and clinical utility of mainstreaming to improve genetic test access and to streamline care, and adaptation of current processes was recognized for results delivery and follow-up. Barriers identified included funding, infrastructure and resources, and the need for process and role delineation. The interventions to overcome barriers were as follows: embedded mainstream genetic counselors, electronic medical record genetic test ordering, results tracking, and mainstreaming education resources. Implementation evidence was connected through the Genomic Medicine Integrative Research framework resulting in a mainstreaming oncogenomics model. DISCUSSION: The proposed mainstreaming oncogenomics model acts as a complex intervention. It features an adaptable suite of implementation strategies to inform Lynch syndrome and other hereditary cancer service delivery. Implementation and evaluation of the model are required in future research.

摘要

引言:“主流化”是一种将基因检测整合到肿瘤学中的提议策略。本文的目的是通过确定卫生系统干预措施和实施策略,以实现林奇综合征基因检测的主流化,从而开发一种主流化肿瘤基因组学模型。 方法:采用实施研究综合框架,进行了包括系统评价以及定性和定量研究在内的严格理论方法。将基于理论的实施数据映射到基因组医学综合研究框架,以生成潜在策略。 结果:系统评价发现,林奇综合征和其他主流化项目缺乏理论指导的卫生系统干预措施和评估。定性研究阶段包括来自12个卫生组织的22名参与者。林奇综合征定量调查共收到198份回复:分别来自基因健康专业人员和肿瘤健康专业人员的回复占26%和66%。研究确定了主流化在改善基因检测可及性和简化护理方面的相对优势和临床效用,并且认识到需要调整当前流程以进行结果传递和随访。确定的障碍包括资金、基础设施和资源,以及对流程和角色界定的需求。克服障碍的干预措施如下:配备专职主流基因咨询师、通过电子病历进行基因检测预约、结果跟踪以及主流化教育资源。通过基因组医学综合研究框架将实施证据联系起来,从而形成了一个主流化肿瘤基因组学模型。 讨论:提议的主流化肿瘤基因组学模型是一种复杂的干预措施。它具有一套可适应的实施策略,为林奇综合征和其他遗传性癌症服务提供指导。未来的研究需要对该模型进行实施和评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0279/10256118/3dfae05a59ef/fonc-13-1140135-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0279/10256118/711a8947ec62/fonc-13-1140135-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0279/10256118/3dfae05a59ef/fonc-13-1140135-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0279/10256118/711a8947ec62/fonc-13-1140135-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0279/10256118/3dfae05a59ef/fonc-13-1140135-g002.jpg

相似文献

[1]
A mainstreaming oncogenomics model: improving the identification of Lynch syndrome.

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[2]
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[3]
Understanding implementation success: protocol for an in-depth, mixed-methods process evaluation of a cluster randomised controlled trial testing methods to improve detection of Lynch syndrome in Australian hospitals.

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[4]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Barriers and Facilitators in Diagnostic Pathways That Align Universal Tumor Screening and Mainstream Genetic Testing for Lynch Syndrome in Colorectal Cancer: Protocol for a Scoping Review With a Narrative Synthesis.

JMIR Res Protoc. 2025-6-10

[2]
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland.

Fam Cancer. 2024-11-15

[3]
What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability.

Eur J Hum Genet. 2024-4

本文引用的文献

[1]
Health system interventions to integrate genetic testing in routine oncology services: A systematic review.

PLoS One. 2021

[2]
Stakeholders' views of integrating universal tumour screening and genetic testing for colorectal and endometrial cancer into routine oncology.

Eur J Hum Genet. 2021-11

[3]
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative.

Genet Med. 2021-4

[4]
Embedding a genetic counselor into oncology clinics improves testing rates and timeliness for women with ovarian cancer.

Gynecol Oncol. 2021-2

[5]
Genetic counselors' perspectives on population-based screening for BRCA-related hereditary breast and ovarian cancer and Lynch syndrome.

J Genet Couns. 2021-2

[6]
Setting a baseline: A 7-year review of referral rates and outcomes for serous ovarian cancer prior to implementation of oncologist mediated genetic testing.

Gynecol Oncol. 2020-8

[7]
How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens.

Genet Med. 2020-9

[8]
Population-based Genetic Testing for Precision Prevention.

Cancer Prev Res (Phila). 2020-8

[9]
Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.

Genet Med. 2020-7

[10]
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).

Gut. 2019-11-28

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