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将遗传性乳腺癌和卵巢癌基因咨询和检测纳入主流临床实践:法律和伦理挑战。

Integrating hereditary breast and ovarian cancer genetic counselling and testing into mainstream clinical practice: Legal and ethical challenges.

机构信息

Centre of Genomics and Policy (CGP), McGill University, Montreal, Québec, Canada.

Centre of Genomics and Policy (CGP), McGill University, Montreal, Québec, Canada.

出版信息

Crit Rev Oncol Hematol. 2022 Oct;178:103797. doi: 10.1016/j.critrevonc.2022.103797. Epub 2022 Aug 27.

DOI:10.1016/j.critrevonc.2022.103797
PMID:36031172
Abstract

Health professionals not specialized in genetics are expected to take an increasing role in genetic services delivery. This article aims to identify legal and ethical challenges related to a collaborative oncogenetics service model, where non-genetic health professionals provide genetic services to patients. Through a scoping literature review, we identified issues to the provision of hereditary breast and ovarian cancer, or other hereditary adult cancers, genetic testing under this model. Concerns that arose in the literature were informed consent, lack of adherence to best practice guidelines, lack of education of non-genetic health professionals on the provision of genetic services, psychological impacts of genetic testing, continuity of care, the complexity of genetic test results, confidentiality, risks of medical mismanagement, and the associated medical responsibility liabilities. Despite these challenges, there is a growing consensus towards the feasibility of cancer genetic testing being undertaken by non-genetic healthcare professionals in a collaborative oncogenetics service model.

摘要

预计非遗传专业的健康专业人员将在遗传服务提供中发挥越来越重要的作用。本文旨在确定与协作肿瘤遗传学服务模式相关的法律和伦理挑战,在该模式下,非遗传健康专业人员为患者提供遗传服务。通过范围广泛的文献回顾,我们确定了在该模型下提供遗传性乳腺癌和卵巢癌或其他遗传性成人癌症遗传检测的问题。文献中提出的问题包括知情同意、不遵守最佳实践指南、非遗传健康专业人员在提供遗传服务方面缺乏教育、遗传检测的心理影响、护理连续性、遗传检测结果的复杂性、保密性、医疗管理失误的风险以及相关的医疗责任责任。尽管存在这些挑战,但越来越多的人认为,在协作肿瘤遗传学服务模式中,非遗传医疗保健专业人员进行癌症基因检测是可行的。

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Integrating hereditary breast and ovarian cancer genetic counselling and testing into mainstream clinical practice: Legal and ethical challenges.将遗传性乳腺癌和卵巢癌基因咨询和检测纳入主流临床实践:法律和伦理挑战。
Crit Rev Oncol Hematol. 2022 Oct;178:103797. doi: 10.1016/j.critrevonc.2022.103797. Epub 2022 Aug 27.
2
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.美国临床肿瘤学会政策声明更新:癌症易感性基因检测
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Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics.将癌症遗传学纳入主流:一种将胚系 BRCA 检测纳入常规卵巢癌临床诊疗的模式。
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Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida.佛罗里达州非遗传学专业人员提供的遗传性乳腺癌和卵巢癌的检测前遗传咨询服务。
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引用本文的文献

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The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.遗传性癌症的临床和遗传特征:单个临床诊断实验室的经验。
Cancer Genomics Proteomics. 2024 Sep-Oct;21(5):448-463. doi: 10.21873/cgp.20463.
2
Mainstreaming in parallel with ovarian cancer tumor testing to improve genetic testing uptake.与卵巢癌肿瘤检测并行实施主流化,以提高基因检测的采用率。
Gynecol Oncol. 2024 Apr;183:126-132. doi: 10.1016/j.ygyno.2024.03.005. Epub 2024 Mar 15.
3
Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.
拷贝数变异 (CNVs) 占遗传性癌症检测患者致病性变异的 10.8%。
Cancer Genomics Proteomics. 2023 Sep-Oct;20(5):448-455. doi: 10.21873/cgp.20396.
4
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon's practice in a large US Academic Center.对乳腺癌患者进行主流的基因检测:来自美国一家大型学术中心一位外科医生的实践经验。
Fam Cancer. 2023 Oct;22(4):467-474. doi: 10.1007/s10689-023-00342-3. Epub 2023 Jun 24.