Department of Public Health and Infectious Diseases, Sapienza University of Rome, Piazzale Aldo Moro, 5-00185 Rome, Italy.
Prev Med. 2013 Nov;57(5):477-82. doi: 10.1016/j.ypmed.2013.06.022. Epub 2013 Jul 1.
Genetic testing for cancer susceptibility is an emerging technology in medicine. This study assessed the knowledge, attitudes and professional behavior of Italian physicians regarding the use of predictive genetic tests for breast and colorectal cancer, including the BRCA1/2 and APC tests.
A cross-sectional survey of a random sample of Italian physicians was performed in 2010 through a self-administered questionnaire.
A response rate of 69.6% (1079 questionnaires) was achieved. A significant lack of knowledge was detected, particularly for APC testing. Less than half of the physicians agreed on the importance of efficacy and cost-effectiveness evidence in the selection of predictive genetic tests to be offered to the patients. Multiple logistic regression analyses showed that education had a positive influence on knowledge, attitudes and, to a lesser extent, professional use. The factor most strongly related to the physicians' use of genetic testing was patients requests for breast (odds ratio=12.65; 95% confidence interval 7.77-20.59) or colorectal cancer tests (odds ratio=7.02; 95% confidence interval 3.61-13.64). A high level of interest for specific training was reported by almost all physicians surveyed.
Targeted educational programs are needed to improve the expertise of physicians, and, ultimately, to enhance the appropriate use of genetic tests in clinical practice.
癌症易感性的基因检测是医学领域的一项新兴技术。本研究评估了意大利医生对用于乳腺癌和结直肠癌的预测性基因检测（包括 BRCA1/2 和 APC 检测）的知识、态度和专业行为。
2010 年，通过自填式问卷对意大利医生进行了横断面调查。
应答率为 69.6%（1079 份问卷）。发现存在明显的知识缺乏，尤其是 APC 检测方面。不到一半的医生同意在选择提供给患者的预测性基因检测时，疗效和成本效益证据的重要性。多因素逻辑回归分析表明，教育对知识、态度以及在较小程度上对专业使用有积极影响。与医生使用基因检测最相关的因素是患者对乳腺癌（比值比=12.65；95%置信区间 7.77-20.59）或结直肠癌检测（比值比=7.02；95%置信区间 3.61-13.64）的要求。几乎所有被调查的医生都表示对特定培训非常感兴趣。
需要有针对性的教育计划来提高医生的专业知识，最终促进基因检测在临床实践中的合理应用。
