Abstract IA25: Implementation of risk prediction to improve health: The promises and challenges of precision

B. Kramer
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Abstract

Advances in the understanding of risk factors have transformed oncology, providing leads for prevention and, in particular, screening. Part of this transformation has been fueled by studies of molecular changes and genetic mutations that are inherited or that precede cancer by years, potentially leading the way to a new era of precision screening and prevention. However, these new leads bring important challenges that demand caution. As Sean Carroll has pointed out, it turns out that life from the molecular scale all the way up to the ecological scale is usually governed by longer chains of interactions than we first imagine, with more links in between (Serengeti Rules: The Quest to Discover How Life Works and Why It Matters, 2016). Rather than screening for existing asymptomatic disease, we have entered the era of screening for risk factors, or even screening for risk factors for risk factors (disease risk predisposition). This is a double-edged endeavor, because genes may influence fate, but not in a linear or straightforward manner. Therefore, prediction of outcome is far less precise than measurement of the predisposing genetic and molecular alterations. Many people may be labeled as carriers of risk factors that will never develop the clinical forms of the disease predicted by the genetic changes, a form of genetic overdiagnosis. So the new era of risk prediction can bring both benefits and harms. A critical tool in determining the balance of benefits and harms of increasingly sensitive omics technologies is the use of a formal analytic framework, to be discussed in the presentation. Citation Format: Barnett S. Kramer. Implementation of risk prediction to improve health: The promises and challenges of precision. [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 IA25.
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IA25:实施风险预测以改善健康:精度的承诺和挑战
对危险因素的理解的进步已经改变了肿瘤学,为预防,特别是筛查提供了线索。这种转变的部分动力来自于对分子变化和基因突变的研究,这些变化和基因突变是遗传的,或者是在癌症发生多年之前发生的,可能会引领人们进入一个精确筛查和预防的新时代。然而,这些新的线索带来了需要谨慎对待的重大挑战。正如肖恩·卡罗尔所指出的那样,事实证明,从分子尺度一直到生态尺度的生命通常是由比我们最初想象的更长的相互作用链所控制的,它们之间有更多的联系(塞伦盖蒂规则:探索生命如何运作以及为什么它很重要,2016)。而不是筛查现有的无症状疾病,我们已经进入了筛查危险因素的时代,甚至是筛查危险因素的危险因素(疾病风险倾向)。这是一把双刃剑,因为基因可能影响命运,但不是以线性或直接的方式。因此,对结果的预测远不如对易感基因和分子改变的测量精确。许多人可能被贴上风险因素携带者的标签,这些人永远不会发展成由基因变化预测的疾病的临床形式,这是一种基因过度诊断。因此,风险预测的新时代既可以带来好处,也可以带来坏处。确定日益敏感的组学技术的利弊平衡的一个关键工具是使用正式的分析框架,将在演讲中讨论。引文格式:Barnett S. Kramer。实施风险预测以改善健康:精确度的承诺和挑战。[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 IA25。
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