Abstract IA07: Using genetic information in screening and prevention: Perspective of clinicians and policy-makers

D. Ransohoff
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Abstract

How can genetic information be effectively used in screening and prevention? The conceptual framework and rules of evidence for answering this question - widely used by clinicians, policy-makers, and payors - has been developed over decades in the field of Evidence-Based Medicine, exemplified by the approach of the USPSTF (US Preventive Services Task Force) and EGAPP (Evaluation of Genomic Applications in Practice and Prevention). The framework9s principles include using the best evidence (clinical trials where available, and observational data where necessary) assessed in systematic searches that consider quality of each study using specific rules of evidence. Outcomes are projected quantitatively to assess net benefit (benefits vs harms) of prevention and screening strategies. In this framework, genetic data may provide information about the magnitude of lifetime risk of developing a specific cancer, while other data (including genomic data) may provide information about the current risk that a cancer is present. Risks of appropriate magnitude may direct interventions that can prevent cancer (for example chemoprevention or preventive surgery) or that can detect the presence of early curable cancer or an important precursor. This talk will describe the quantitative conceptual framework and its rationale, along with the implications, challenges, and opportunities for the use of genetic and genomic information for cancer prevention and screening. Citation Format: David F. Ransohoff. Using genetic information in screening and prevention: Perspective of clinicians and policy-makers. [abstract]. In: Proceedings of the AACR Special Conference: Improving Cancer Risk Prediction for Prevention and Early Detection; Nov 16-19, 2016; Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2017;26(5 Suppl):Abstract nr IA07.
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摘要:遗传信息在筛查和预防中的应用:临床医生和决策者的观点
如何将遗传信息有效地用于筛查和预防?回答这个问题的概念框架和证据规则——被临床医生、政策制定者和付款人广泛使用——已经在循证医学领域发展了几十年,以USPSTF(美国预防服务工作组)和EGAPP(基因组在实践和预防中的应用评估)的方法为例。该框架的原则包括使用在系统检索中评估的最佳证据(可用的临床试验和必要的观察性数据),使用特定的证据规则考虑每个研究的质量。定量预测结果以评估预防和筛查策略的净收益(收益与危害)。在这一框架下,遗传数据可以提供有关患某种特定癌症的终生风险大小的信息,而其他数据(包括基因组数据)可以提供有关癌症存在的当前风险的信息。适当程度的风险可以指导可以预防癌症的干预措施(例如化学预防或预防性手术)或可以检测早期可治愈的癌症或重要前兆的存在。本讲座将描述定量概念框架及其基本原理,以及在癌症预防和筛查中使用遗传和基因组信息的含义、挑战和机遇。引文格式:David F. Ransohoff。利用遗传信息筛查和预防:临床医生和决策者的观点。[摘要]。摘自:AACR特别会议论文集:改进癌症风险预测以预防和早期发现;2016年11月16日至19日;费城(PA): AACR;Cancer epidemiology Biomarkers pre2017;26(5增刊):摘要nr IA07。
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