【佳学基因检测】基因发现和表征的集成设计

肿瘤基因检测回扣机会

参加学术会议时成人肿瘤与儿童肿瘤基因检测序列的异同点《肿瘤治疗效果与基因检测结果的相关性》《J Natl Cancer Inst Monogr》在. 1999;(26):71-80.发表了一篇题目为《基因发现和表征的集成设计》肿瘤靶向药物治疗基因检测临床研究文章。该研究由L P Zhao , C Aragaki, L Hsu, J Potter, R Elston, K E Malone, J R Daling, R Prentice等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

同国外肿瘤基因检测相比，优势是如何建立的：

表征,基因组图谱,乳腺癌,高通量技术,遗传,流行病学

肿瘤靶向治疗基因检测临床应用结果

最近的进展，包括接近完成的人类基因组图谱，不断改进的高通量技术，以及发现慢性病相关基因的成功，刺激了遗传流行病学的进一步发展。遗传流行病学的主要任务是发现和表征导致人类疾病的基因，无论是独立于环境因素还是与环境因素相互作用。为了完成这样的使命，遗传流行病学需要整合遗传和流行病学方法。这种综合方法面临的挑战之一是确定对基因发现和表征都有效的研究设计。由于单独的基因发现设计和单独的基因表征设计已在其他两个小组中进行了详细说明，因此本文的重点是描述可能对共同发现和表征有用的设计，包括病例家族和病例对照-家庭设计。描述了集成设计的示例，并使用在 Fred Hutchinson 癌症研究中心进行的乳腺癌研究进行说明。最后，还讨论了相关的分析问题。

肿瘤发生与复发转移国际数据库描述：

Recent advances, including near completion of the human genome map, ever improving high-throughput technologies, and successes in discovering chronic disease-related genes, have stimulated the further development of genetic epidemiology. The primary mission of genetic epidemiology is to discover and characterize genes, whether independent of or interactive with environmental factors, that cause human diseases. To accomplish such a mission, genetic epidemiology needs to integrate both genetic and epidemiologic approaches. One of the challenges facing such an integrated approach is the identification of study designs that are efficient for both gene discovery and characterization. Because designs for gene discovery alone and designs for gene characterization alone have been elaborated in the other two panels, the focus of this paper is to describe those designs that may be useful for discovery and characterization jointly, including case-family and case-control-family designs. Examples of integrated designs are described, and studies of breast cancer conducted at the Fred Hutchinson Cancer Research Center are used for illustration. Finally, related analytic issues are also discussed.