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改善美国癌症遗传学服务提供的干预措施:范围综述。

Interventions to improve delivery of cancer genetics services in the United States: A scoping review.

机构信息

Cancer Prevention and Control Platform, Moon Shots Program, The University of Texas MD Anderson Cancer Center, Houston, TX; Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX.

Department of Gynecologic Oncology & Reproductive Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX.

出版信息

Genet Med. 2022 Jun;24(6):1176-1186. doi: 10.1016/j.gim.2022.03.002. Epub 2022 Apr 7.

DOI:10.1016/j.gim.2022.03.002
PMID:35389342
Abstract

PURPOSE

Interventions that decrease barriers and improve clinical processes can increase patient access to guideline-recommended cancer genetics services. We sought to identify and describe interventions to improve patient receipt of guideline-recommended cancer genetics services in the United States.

METHODS

We performed a comprehensive search in Ovid MEDLINE and Embase, Scopus, and Web of Science from January 1, 2000 to February 12, 2020. Eligible articles reported interventions to improve the identification, referral, genetic counseling (GC), and genetic testing (GT) of patients in the United States. We independently screened titles and abstracts and reviewed full-text articles. Data were synthesized by grouping articles by clinical process.

RESULTS

Of 44 included articles, 17 targeted identification of eligible patients, 14 targeted referral, 15 targeted GC, and 16 targeted GT. Patient identification interventions included universal tumor testing and screening of medical/family history. Referral interventions included medical record system adaptations, standardizing processes, and provider notifications. GC interventions included supplemental patient education, integrated GC within oncology clinics, appointment coordination, and alternative service delivery models. One article directly targeted the GT process by implementing provider-coordinated testing.

CONCLUSION

This scoping review identified and described interventions to improve US patients' access to and receipt of guideline-recommended cancer genetics services.

摘要

目的

减少障碍和改善临床流程的干预措施可以增加患者获得指南推荐的癌症遗传学服务的机会。我们旨在确定并描述在美国提高患者接受指南推荐的癌症遗传学服务的干预措施。

方法

我们在 Ovid MEDLINE 和 Embase、Scopus 和 Web of Science 上进行了全面检索,检索时间为 2000 年 1 月 1 日至 2020 年 2 月 12 日。合格的文章报告了在美国改善患者识别、转介、遗传咨询(GC)和遗传检测(GT)的干预措施。我们独立筛选标题和摘要,并审查全文文章。通过按临床流程对文章进行分组来综合数据。

结果

在 44 篇纳入的文章中,17 篇针对合格患者的识别,14 篇针对转介,15 篇针对 GC,16 篇针对 GT。患者识别干预措施包括肿瘤检测的普遍应用和医疗/家族史筛查。转介干预措施包括医疗记录系统的调整、标准化流程和提供者通知。GC 干预措施包括补充患者教育、将 GC 纳入肿瘤学诊所、预约协调以及替代服务提供模式。有一篇文章通过实施提供者协调的检测直接针对 GT 过程。

结论

这项范围综述确定并描述了在美国提高患者获得和接受指南推荐的癌症遗传学服务的干预措施。

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Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.2012-2019 年乳腺癌或卵巢癌诊断女性的种系基因检测及结果的时间趋势。
J Clin Oncol. 2021 May 20;39(15):1631-1640. doi: 10.1200/JCO.20.02785. Epub 2021 Feb 9.
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Racial and Ethnic Disparities in Germline Genetic Testing of Patients With Young-Onset Colorectal Cancer.
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Genet Med Open. 2024 Dec 14;3:101913. doi: 10.1016/j.gimo.2024.101913. eCollection 2025.
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A Review of Genomic Testing and SDH- Deficiency in Gastrointestinal Stromal Tumors: Getting to the GIST.胃肠道间质瘤的基因组检测与琥珀酸脱氢酶缺陷综述:深入了解胃肠道间质瘤
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J Community Genet. 2024 Dec;15(6):681-686. doi: 10.1007/s12687-024-00744-5. Epub 2024 Oct 14.
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