Malinowski M J, Blatt R J R
Eunice Kennedy Shriver Center for Mental Retardation, USA.
Tulane Law Rev. 1997 Mar;71(4):1211-312.
Many women fear being diagnosed with breast cancer, and rightfully so. Despite the capabilities of modern medicine, the cumulative lifetime risk of getting the disease has risen to one in eight and, despite decades of research, no cures exist. In this Article, the authors explore the commercialization of so-called breast cancer gene tests, based upon genetic alterations linked to the disease. Although the authors fully address this specific technology, they use what constitutes the seminal case of predictive genetic testing to analyze the adequacy of the existing regulatory framework. The authors conclude that the present regulatory system is inadequate and places a dangerous amount of reliance on primary care physicians. Their conclusion is grounded in the observation that most primary care physicians lack sufficient knowledge about this evolving investigative technology--which is highly subject to misinterpretation, and, though potentially helpful to some "high risk" patients, offers questionable clinical value for the general public. The authors set forth numerous proposals to promote both the quality and clinical value of predictive genetic testing so that it conforms to public health standards and can be properly integrated as a reliable component of medical care in specific situations.
许多女性害怕被诊断出患有乳腺癌，这是有道理的。尽管现代医学有诸多能力，但患这种疾病的终生累积风险已升至八分之一，而且尽管经过了数十年的研究，仍然没有治愈方法。在本文中，作者探讨了基于与该疾病相关的基因改变的所谓乳腺癌基因检测的商业化问题。尽管作者全面探讨了这项特定技术，但他们利用预测性基因检测的典型案例来分析现有监管框架的充分性。作者得出结论，目前的监管体系是不充分的，并且过度依赖初级保健医生。他们的结论基于这样的观察：大多数初级保健医生对这项不断发展的检测技术缺乏足够的了解——这项技术极易被误解，而且尽管对一些“高风险”患者可能有帮助，但对普通公众而言其临床价值存疑。作者提出了许多建议，以提高预测性基因检测的质量和临床价值，使其符合公共卫生标准，并能在特定情况下作为医疗保健的可靠组成部分得到妥善整合。
