American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility
American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility
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DOI：
10.1200/jco.2003.03.189
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发表时间：
2003-06-15
影响因子：
45.3
通讯作者：
Bruinooge, SS
中科院分区：
文献类型：
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作者：
Bruinooge, SS
作为代表癌症专家参与患者护理和临床研究的领先组织，美国临床肿瘤学会（ASCO）重申其致力于将癌症风险评估和管理，包括癌症易感基因的分子分析纳入肿瘤和预防医学的实践。这一努力的主要目标是促进向受遗传性癌症综合症影响的患者和家庭提供更多的医疗服务，并使其不断取得进展。1996年ASCO关于癌症易感性基因检测的声明提出了具体的建议，涉及临床实践、研究需求、教育机会、知情同意的要求、基因检测的适应症、实验室的管理、免受歧视的保护，以及癌症遗传学服务的获取和报销。在更新本声明时，ASCO赞同以下原则：基因检测的适应症：ASCO建议在以下情况下进行基因检测：1)个体具有提示遗传癌症易感性状况的个人或家族史特征；2)该检测可以充分解释；3)结果将有助于诊断或影响患者或具有遗传癌症风险的家庭成员的医学或外科治疗。ASCO建议基因检测只在检测前和检测后的咨询中进行，其中应包括讨论癌症早期检测和预防模式的可能风险和益处。儿童癌症易感性检测中的特殊问题：ASCO建议，在决定为潜在受影响的儿童提供检测时，应考虑到基于证据的降低风险策略的可用性以及儿童时期发生恶性肿瘤的可能性。如果风险降低策略是可用的，或者癌症主要发生在儿童时期，ASCO认为父母有权决定是否进行检测。在没有增加儿童恶性肿瘤风险的情况下，ASCO建议推迟基因检测，直到个体达到足够的年龄，以便对此类检测做出明智的决定。就像在儿科护理的其他领域一样，临床癌症遗传学专业人员应该是儿童最佳利益的倡导者。关于检测后医疗管理的咨询ASCO建议肿瘤学家在测试前和测试后咨询中讨论癌症早期检测和预防模式的可能风险和益处，其中一些对遗传癌症风险增加的个体有推测但未经证实的功效。基因检测的监管：ASCO建议加强对提供临床癌症易感性检测的实验室的监管。这些质量保证机制应包括对基因检测所用试剂的监督、参考样品的实验室间比较、实验室基因检测报告的标准化以及能力检测。防止保险和就业歧视：ASCO支持制定一项联邦法律，禁止健康保险提供者和雇主基于个人对癌症的遗传易感性而进行歧视。防止基因歧视的保护措施应适用于有团体保险的人、有个人健康保险的人和没有保险的人。服务的覆盖范围：ASCO支持努力确保所有遗传性癌症风险显著增加的个人都能获得适当的遗传咨询、检测、筛查、监测以及所有相关的医疗和外科干预措施，这些应由公共和私人第三方付款人承担而不受处罚。家族风险的保密和沟通。ASCO建议提供者共同努力保护遗传信息的机密性。然而，他们应该提醒患者将测试结果告知家庭成员的重要性，作为测试前咨询和知情同意讨论的一部分。ASCO认为，癌症护理提供者对有风险的亲属的义务（如果有的话）最好通过与接受检测的人沟通家庭风险来履行，强调与家庭成员分享这些信息的重要性，这样他们也会受益。遗传学教育机会：ASCO致力于继续为医生和其他医疗保健提供者提供有关癌症风险评估方法、遗传性癌症易感性综合征的临床特征以及与基因检测相关的一系列问题的教育机会，包括检测前和检测后的遗传咨询和风险管理。因此，卫生专业人员可以负责任地将对癌症遗传风险增加的人的护理纳入临床和预防性肿瘤学实践。与人体组织基因研究有关的特别问题。ASCO建议，所有计划使用或储存人类生物标本进行遗传研究的研究人员应咨询负责的机构审查委员会（IRS）或专门评估人体组织研究的类似机构，以确定正在考虑的研究的特定保护要求。该咨询应在项目启动之前进行。确定此类研究是否需要知情同意或授权，应取决于研究是否涉及对已知临床意义的遗传标记进行测试，以及研究数据是否将与受保护的健康信息联系起来，以及拟议研究特有的其他考虑因素。还应特别注意的是：1)未来的研究结果是否会向研究参与者披露，2)是否计划未来与参与者的联系，3)是否以及如何保护组织捐赠者的健康信息，以及试验结束后研究标本将发生什么。此外，ASCO确认，根据联邦隐私法规，向数据库提供组织的人有权撤销他们的许可。
As the leading organization representing cancer specialists involved in patient care and clinical research, the American Society of Clinical Oncology (ASCO) reaffirms its commitment to integrating cancer risk assessment and management, including molecular analysis of cancer predisposition genes, into the practice of oncology and preventive medicine. The primary goal of this effort is to foster expanded access to, and continued advances in, medical care provided to patients and families affected by hereditary cancer syndromes. The 1996 ASCO Statement on Genetic Testing for Cancer Susceptibility set forth specific recommendations relating to clinical practice, research needs, educational opportunities, requirement for informed consent, indications for genetic testing, regulation of laboratories, and protection from discrimination, as well as access to and reimbursement for cancer genetics services. In updating this Statement, ASCO endorses the following principles:Indications for Genetic Testing: ASCO recommends that genetic testing be offered when 1) the individual has personal or family history features suggestive of a genetic cancer susceptibility condition, 2) the test can be adequately interpreted, and 3) the results will aid in diagnosis or influence the medical or surgical management of the patient or family members at hereditary risk of cancer. ASCO recommends that genetic testing only be done in the setting of pre- and post-test counseling, which should include discussion of possible risks and benefits of cancer early detection and prevention modalities.Special Issues in Testing Children for Cancer Susceptibility: ASCO recommends that the decision to offer testing to potentially affected children should take into account the availability of evidence-based risk-reduction strategies and the probability of developing a malignancy during childhood. Where risk-reduction strategies are available or cancer predominantly develops in childhood, ASCO believes that the scope of parental authority encompasses the eight to decide for or against testing. In the absence of increased risk of a childhood malignancy, ASCO recommends delaying genetic testing until an individual is of sufficient age to make an informed decision regarding such tests. As in other areas of pediatric care, the clinical cancer genetics professional should be an advocate for the best interests of the child.Counseling About Medical Management After Testing. ASCO recommends that oncologists include in pre- and post-test counseling the discussion of possible risks and benefits of cancer early-detection and prevention modalities, some of which have presumed but unproven efficacy for individuals at increased hereditary risk of cancer.Regulation of Genetic Testing: ASCO recommends strengthening regulatory oversight of laboratories that provide clinical cancer predisposition tests. These quality assurance mechanisms should include oversight of the reagents used in genetic testing, interlaboratory comparisons of reference samples, standardization of laboratory genetic test reports, and proficiency testing.Protection From Insurance and Employment Discrimination: ASCO supports establishing a federal law to prohibit discrimination by health insurance providers and employers on the basis of an individual's inherited susceptibility to cancer. Protections against genetic discrimination should apply to those with group coverage, those with individual health insurance policies, and the uninsured.Coverage of Services: ASCO supports efforts to ensure that all individuals at significantly increased risk of hereditary cancer have access to appropriate genetic counseling, testing, screening, surveillance, and all related medical and surgical interventions, which should be covered without penalty by public and private third-party payers.Confidentiality and Communication of Familial Risk. ASCO recommends that providers make concerted efforts to protect the confidentiality of genetic information. However, they should remind patients of the importance of communicating test results to family members, as part of pretest counseling and informed consent discussions. ASCO believes that the cancer care provider's obligations (if any) to at-risk relatives are best fulfilled by communication of familial risk to the person undergoing testing, emphasizing the importance of sharing this information with family members so that they may also benefit.Educational Opportunities in Genetics: ASCO is committed to continuing to provide educational opportunities for physicians and other health care providers regarding the methods of cancer risk assessment, the clinical characteristics of hereditary cancer susceptibility syndromes, and the range of issues related to genetic testing, including pre- and post-test genetic counseling, and risk management, so that health professionals may responsibly integrate the care of persons at increased genetic risk of cancer into the practice of clinical and preventive oncology.Special Issues Relating to Genetic Research on Human Tissues. ASCO recommends that all researchers proposing to use or store human biologic specimens for genetic studies should consult either the responsible institutional review board (IRS) or a comparable body specifically constituted to assess human tissue research, to determine the requirements for protection specific to the study under consideration. This consultation should take place before the project is initiated. The determination of the need for informed consent or authorization in such studies should depend on whether the research involves tests for genetic markers of known clinical significance and whether research data will be linked to protected health information, as well as other considerations specific to the study proposed. Special attention should also be paid to 1) whether future research findings Will be disclosed to the research participants, 2) whether future contact of participants is planned, 3) whether and how protected health information about the tissue donors will, be stared, and what will happen to study specimens after the trial ends. In addition, ASCO affirms the right of people contributing tissue to a databank to rescind their permission, in accordance with federal privacy regulations.