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【资讯翻译】Genetic Test Showing Increased CRC Risk Prompts No Action

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发表于 2014-10-22 14:48:48 | 显示全部楼层 |阅读模式
Genetic Test Showing Increased CRC Risk Prompts No Action

Genetic testing designed to determine the risk of developing colorectal cancer (CRC) failed to prompt people to sign up for CRC screening, even when the test showed an elevated risk of colon cancer, according to a study published online October 20 in the Annals of Internal Medicine.
The researchers suggest that their findings debunk a common claim in the media that enhanced information about individual genetic makeup will promote healthier behavior.
"It was a surprise," said lead investigator David S. Weinberg, MD, chair of internal medicine and chief of the gastroenterology section at the Fox Chase Cancer Center and Jefferson Medical College in Philadelphia.
Study participants who underwent folate testing combined with genetic screening were no more likely to follow-up with CRC screening than those who received no individual risk profile. "You would think that information about yourself that is so personalized — your own genes, your own level of folate — might be more effective in altering your behavior than being told about risk in the abstract," he told Medscape Medical News.
The study involved 783 people, 50 to 79 years of age, who were at average risk for CRC but had not been adherent to CRC screening recommendations, either fecal occult blood testing or colonoscopy.
These patients were assigned to receive either usual care or genetic testing plus environment risk assessment (GERA).
The environmental risk-assessment portion of the GERA looked at serum folate levels, and the genetic testing evaluated certain polymorphisms of methylenetetrahydrofolate reductase (MTHFR), a regulator of cellular folate metabolism. In combination with low serum folate, certain MTHFR polymorphisms can as much as double the risk for CRC.
In the subsequent 6 months, the rate of CRC screening between the usual care and GERA groups was not significantly different (35.7% vs 33.1%).
Surprisingly, in the GERA group, more people determined to be at average risk than at elevated risk followed-up with CRC screening (38.1% vs 27.9%; odds ratio [OR], 0.75), but the difference was not statistically significant.
The likelihood of undergoing CRC screening failed to reach significance even after adjustment for covariates such as age, sex, race, marital status, education, and multivitamin use.
"Everybody sort of assumed genetic testing would change the way people behaved," Dr. Weinberg said. "We came along and said, 'We are measuring your risk for a common disease before you have it, where we can tell you something and you can do something in the here-and-now to reduce that risk.' There is a widely agreed-upon risk-reduction strategy, but nobody did it."
Dr. Weinberg speculated that a degree of "genetic determinism" might have taken hold in the face of a test that showed an elevated CRC risk. "It becomes fait accompli. I'm going to get this disease, so why bother?"
Furthermore, Dr. Weinberg said, participants might not have understood, despite efforts to inform them, that CRC screening would be the correct next step. Another possibility is that the people didn't distinguish between genetic testing, which can determine risk but not diagnose disease, and screening tests, which can find precancerous and cancerous tissue.
This isn't the first study to show a disconnect between genetic testing and individual behavior. A previous study looked at 2037 individuals who underwent genetic testing (N Engl J Med. 2011;364:524-534). In the 6 months after testing, there were no changes in dietary fat intake, exercise levels, or symptoms of anxiety.

信源地址:http://www.medscape.com/viewarticle/833541

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发表于 2014-10-22 14:49:46 | 显示全部楼层
这篇我领了

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发表于 2014-10-23 10:43:17 | 显示全部楼层
Genetic Test Showing Increased CRC Risk Prompts No Action
尽管基因检测预示较高的直肠癌风险,但人们无动于衷

基因检测是设计用来检测直肠癌(CRC)进展风险的,然而据一篇10月20日发表在《内科学年鉴》(Annals of Internal Medicine)上的文章描述,很少有人因此报名进行CRC筛查,甚至在基因检测显示直肠癌风险较高的时候依然如此。
尽管媒体普遍认为个人基因构成信息增加会促进更健康的行为,然而研究人员却发现他们的研究推翻了这一普遍论点。
“这非常令人惊讶!”David S. Weinberg先生(首席研究员,医学博士,Fox Chase癌症中心和杰弗逊医学院内科医学教授、消化科主任)说。
研究参与人员中,接受与遗传病筛查结合的叶酸检测的人并不比那些接受了非私人化的风险预测的人更有兴趣继续接受CRC筛查。“你可能会认为那些有关你的私人信息,比方说自己的基因或者叶酸水平之类的可能会比理论上描述的风险更能让你改变习惯。”他对Medscape医疗新闻说。
这项研究有783人参与,年龄在50岁到70岁之间。这些参与者有患CRC的平均风险,但是都不是CRC推荐筛查项目(大便潜血实验或者结肠镜检查)的拥护者。
这些患者被分配接受常规护理,或者基因检测加环境风险评估(GERA)。
GERA的环境风险评估部分用来审视血清中叶酸水平,而基因检测则评价亚甲基四氢叶酸还原酶(用来调节细胞叶酸代谢,MTHFR)的特定多态性。与血清叶酸含量低相结合,特定的MTFHR多态性意味着CRC的风险加倍。
在随后的6个月中,常规护理组和GERA组之间的CRC筛查率并无显著差异(35.7% vs 33.1%)。
出人意料的是,GERA组中,经过CRC筛查后发现CRC风险在平均水平的患者比风险较高的患者多(38.1% vs 27.9%; 让步比[OR], 0.75),但是这种差异并不显著。
经过CRC筛查后的似然结果未能达到显著水平,哪怕是调整了相关变量,比如年龄、性别、种族、婚姻状况、受教育程度以及是否服用多种维生素剂。
“人们一定程度上都假定基因测试会改变一个人的行为方式。” Weinberg博士说,“我们走过来对你说:‘我们正在衡量的是你患上一种常见疾病的风险,在你真的得病之前。因此我们可以告诉你一些事以及此时此刻你能做哪些事来降低这种风险。’事实上有一种广泛认可的降低风险的策略,但遗憾的是没人去做。”
Weinberg博士推测,“基因决定论”一定程度上可能仅仅只抓住了测试的表面意思——测试显示患CRC的风险较高。“这变成了既定事实。我马上要得这种病了,那我还费心什么?”
此外,Weinberg博士说,尽管已经努力去告诉参与者CRC筛查是正确的下一步骤,但是他们可能还不理解。另一个可能是,人们并不能区分基因检测(只能评估风险,并不能确诊疾病)和筛查检测(能发现癌前病变和癌症组织)的差异。
这不是第一个揭示基因检测与个体行为之间没有关联的研究。早先的一个研究审视了2037名参试人员在经历基因检测后的行为(N Engl J Med. 2011;364:524-534)。在检测后的6个月里,这些参试人员的饮食习惯、运动水平以及焦虑症状没有任何改变。

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 楼主| 发表于 2014-10-23 13:08:52 | 显示全部楼层
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