Cancer在线版近期发表了一篇关于癌症早期基因组检测的争议性文章，Women's experiences with genomic testing for breast cancer recurrence risk，来自Lineberger Comprehensive Cancer Center的科学家对乳腺癌患者基因检测提出质疑。 据悉，科学家们对接受基因检测的患者进行跟踪调查，结果发现，有1/3的乳腺癌早期患者在接受基因组检测后，没有感觉到这些检测结果对**行为具有指导意义，因不能理解基因组检测的数据意义无法与主治医生讨论相关**问题，她们普遍关注的问题是，通过基因检测后是否能预测复发的记录。有1/4的患者表示，接受基因检测结果后，感到沮丧。
基因组检测在早期乳腺癌患者中变得越来越常见，基因检测过程主要探测21个与乳腺癌相关的基因，在接受外科手术后，这些基因的表达量可以预示乳腺癌的复发几率。这些检测结果可以帮助患者与医生，指导**策略，比如，是否通过化疗来解决复发问题。
如果被检测者显示出具有较高的复发率，那么医生将给患者更为激烈的**方案；如果被检测者显示出较低的复发率，那么医生将采取相对保守的**方案。
在为期5年的跟踪调查中，科学家们对接受乳腺癌风险基因检测的患者进行问卷调查，结果发现，大部分的患者表示愿意接受这种检测，并且相信这个检测对乳腺癌的**和预防复发具有积极的意义，但是，仍旧有部分（1/3）患者表示，虽然进行了检查，但是却不能了解检测结果的真正含义，有1/4的患者表示，对检测结果表示出更大的焦虑。
这些结果表明，基因检测变得越来越常规，患者也十分接受这种检测，但是，美中不足的是，医生与患者间的沟通解释比较缺乏，还有更一步上升的空间。
21种乳腺癌基因通过芯片检测遁形
基因检测：OncotypeDXge
这一测试检查21种乳腺癌肿瘤中可能存在的不同基因，并且依次预测在手术之后复发的可能性有多大。这能帮助女性患者决定是否继续进行化疗，因为化疗可以引起相当多的副作用，例如恶心、脱发和麻痹等等。这一测试需花费3500美元。
利用21-基因复发评分芯片，在部分病例的石蜡标本中测定21个基因(16个肿瘤相关基因+5个管家基因)，并分析了21基因的复发指数(RS)。结果揭示，RS对于10年无病生存(DFS)和总生存(OS)均有预后价值。接受三苯氧胺**患者RS低、中、高组后的10年DFS分别为60%、49%和43%；10年OS分别为77%、68%和51%。在RS高组别中，患者可以从环磷酰胺+阿霉素和5氟尿嘧啶(CAF)化疗中获益，CAF+三苯氧胺(CAF-T)**组和三苯氧胺(T)**组的10 年DFS分别为55%和43%；在RS低组别中，CAF化疗并未使患者获益；RS中等组别患者的化疗益处尚不明确。患者从CAF化疗中的获益与RS呈线性相关，尤其表现在**后的头5年内；CAF化疗给RS高组别患者带来的获益可延续至术后10年，而且这种获益不依赖于转移**结数量。
推荐原文检索
Women's experiences with genomic testingfor breast cancer recurrence risk. Janice P. Tzeng, Deborah Mayer,Alice R. Richman, Isaac Lipkus, Paul K. Han, Carmina G. Valle, LisaA. Carey, and Noel T. Brewer. CANCER; Published Online: March 8,2010 (DOI: 10.1002/cncr.24990).
Abstract
BACKGROUND:
Few studies have examined how patientsunderstand and use genomic test results when deciding abouttreatment. This study examined how women receive and incorporateresults of Oncotype DX, a genomic test that offers recurrence riskestimates, into decisions about adjuvant treatment for early stagebreast cancer.
METHODS:
Participants in the cross-sectional studywere 77 women with early stage, estrogen receptor-positive breastcancer with 0 to 3 positive lymph nodes who received Oncotype DXbetween 2004 and 2009. Mailed surveys, supplemented by medicalchart review, assessed how women received and understood recurrencerisk information based on the test.
RESULTS:
The most common test results were low(50%, 34 of 68) or intermediate (37%, 25 of 68) breast cancerrecurrence risk. Most women accurately recalled their recurrencerisk based on the test (71%) and felt they understood much of whatthey were told about it (67%). Approximately 25% of women recalledexperiencing test-related distress. Women's perceived recurrencerisk was associated with their actual genomic-based recurrencerisks, having had a previous cancer diagnosis, and worry aboutrecurrence. Women with high recurrence risk typically hadchemotherapy (78%, 7 of 9), whereas only 2 with a low recurrencerisk did (7%, 2 of 30).
CONCLUSIONS:
This is among the first studies todescribe patients' experiences with genomic testing for recurrencerisk. Although many women understood discussions about theirgenomic test results, a third reported not fully understandingthese discussions, suggesting a need to aid and improve riskcommunication and treatment decision making. Cancer 2010. ? 2010American Cancer Society.