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美国临床肿瘤学会声明:癌症易感性基因检测,1996年2月20日通过。

Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996.

出版信息

J Clin Oncol. 1996 May;14(5):1730-6; discussion 1737-40. doi: 10.1200/JCO.1996.14.5.1730.

DOI:10.1200/JCO.1996.14.5.1730
PMID:8622094
Abstract

As the leading organization of physicians who treat people with cancer, the American Society of Clinical Oncology (ASCO) recognizes that cancer specialists must be fully informed of the range of issues involved in genetic testing for cancer risk. The newly discovered and still developing ability to identify individuals at highest risk for cancer holds the promise of improved prevention and early detection of cancers. It also poses potential medical, psychological, and other personal risks that must be addressed in the context of informed consent for genetic testing. ASCO firmly believes that any physician who offers genetic testing should be aware of, and able to communicate, the benefits and limits of current testing procedures, and the range of prevention and treatment options available to patients and their families. For these reasons, ASCO endorses the following principles: ASCO affirms the role of clinical oncologists in documenting a family history of cancer in their patients, providing counseling regarding familial cancer risk and options for prevention and early detection, and recognizing those families for which genetic testing may serve as an aid in counseling. To the greatest extent possible, genetic testing for cancer susceptibility should be performed in the setting of long-term outcome studies. ASCO endorses the formulation and implementation of a national cooperative study/registry with appropriate confidentiality to define the clinical significance of mutations in known cancer susceptibility genes. ASCO is committed to providing educational opportunities for physicians concerning methods of quantitative cancer risk assessment, genetic testing, and pre- and post-test genetic counseling so that oncologists may more responsibly integrate genetic counseling and testing into the practice of clinical and preventive oncology. Oncologists must assure that informed consent has been given by the patient as an integral part of the process of genetic predisposition testing, whether such testing is offered on a clinical or research basis. ASCO recommends that cancer predisposition testing be offered only when: 1) the person has a strong family history of cancer or very early age of onset of disease; 2) the test can be adequately interpreted; and 3) the results will influence the medical management of the patient or family member. As clinical testing becomes more widely available, the Society encourages oncologists to utilize laboratories committed to the validation of testing methodologies, and to facilitate families' participation in long-term outcome studies. ASCO recommends that oncologists include in pre- and post-test counseling discussion of possible risks and benefits of cancer early detection and prevention modalities, which have presumed but unproven efficacy for individuals at the highest hereditary risk for cancer. ASCO endorses efforts to strengthen regulatory authority over laboratories that provide cancer predisposition tests that will be utilized to inform clinical decisions. These regulatory requirements should include appropriate oversight of the products used in genetic testing, interlaboratory comparisons of reference samples, as well as quality control mechanisms. ASCO endorses all efforts including legislation to prohibit discrimination by insurance companies or employers based on an individual's inherited susceptibility to cancer. All individuals at hereditary risk for cancer should have access to appropriate genetic testing and associated medical care, which should be covered by public and private third-party payers. ASCO endorses continued support of patient-oriented research to analyze the psychological impact of genetic testing of at-risk populations.

摘要

作为治疗癌症患者的医师的主要组织,美国临床肿瘤学会(ASCO)认识到癌症专科医生必须充分了解癌症风险基因检测所涉及的一系列问题。新发现且仍在发展的识别癌症高危个体的能力有望改善癌症的预防和早期检测。它也带来了潜在的医学、心理和其他个人风险,这些风险必须在基因检测知情同意的背景下加以解决。ASCO坚信,任何提供基因检测的医生都应了解并能够传达当前检测程序的益处和局限性,以及患者及其家人可获得的预防和治疗选择范围。出于这些原因,ASCO支持以下原则:ASCO肯定临床肿瘤学家在记录患者癌症家族史、提供有关家族性癌症风险及预防和早期检测选择的咨询,以及识别那些基因检测可能有助于咨询的家庭方面所发挥的作用。在可能的最大程度上,癌症易感性基因检测应在长期结果研究的背景下进行。ASCO支持制定和实施一项具有适当保密措施的全国合作研究/登记,以确定已知癌症易感基因中突变的临床意义。ASCO致力于为医生提供有关定量癌症风险评估方法、基因检测以及检测前和检测后基因咨询的教育机会,以便肿瘤学家能够更负责任地将基因咨询和检测纳入临床和预防肿瘤学实践。肿瘤学家必须确保患者已给予知情同意,这是基因易感性检测过程的一个组成部分,无论这种检测是在临床还是研究基础上提供。ASCO建议仅在以下情况下提供癌症易感性检测:1)该人有强烈的癌症家族史或疾病发病年龄非常早;2)检测结果能够得到充分解读;3)结果将影响患者或家庭成员的医疗管理。随着临床检测越来越普及,该学会鼓励肿瘤学家利用致力于检测方法验证的实验室,并促进家庭参与长期结果研究。ASCO建议肿瘤学家在检测前和检测后的咨询中纳入对癌症早期检测和预防方式可能的风险和益处的讨论,这些方式对癌症遗传风险最高的个体的疗效是假定的但未经证实的。ASCO支持加强对提供用于为临床决策提供信息的癌症易感性检测的实验室的监管权力的努力。这些监管要求应包括对基因检测中使用的产品的适当监督、参考样本的实验室间比较以及质量控制机制。ASCO支持包括立法在内的所有努力,以禁止保险公司或雇主基于个人对癌症的遗传易感性进行歧视。所有有癌症遗传风险的个体都应能够获得适当的基因检测和相关医疗护理,公共和私人第三方支付者应予以覆盖。ASCO支持继续支持以患者为导向的研究,以分析对高危人群进行基因检测的心理影响。

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