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遗传性癌症易感基因检测的伦理学问题

The Ethics of Genetic Testing for Inherited Cancer-Predisposing Genes.

作者信息

Sorscher Steven, Detroye Alisha T

机构信息

From Biotheranostics, Inc./A Hologic Company, San Diego, California.

Atrium Health Wake Forest Baptist, Wake Forest University School of Medicine, Winston-Salem, North Carolina.

出版信息

J Adv Pract Oncol. 2024 Mar;15(2):137-140. doi: 10.6004/jadpro.2024.15.2.6. Epub 2024 Mar 1.

Abstract

Once an individual has been identified as a carrier of an inherited cancer-predisposing gene or pathogenic germline variant (PGV), there are measures that have been proven to prevent and diagnose the associated cancers at an earlier, more curable stage. Consequently, patients who are offered and undergo testing are afforded opportunities and health-care information that profoundly affect their lives and the lives of their family members who choose to be tested as well. For years, the debate over the controversial topic of whether all patients should be offered germline testing for cancer-predisposing PGVs centered around questions of the analytical sensitivity of the assays (i.e., the ability of the test to correctly identify those who carry a PGV), legal implications for those identified as PGV carriers, cost to the health-care system, and the uncertain management implications of test results. Currently, the standard of care is to offer testing to individuals where the anticipated benefits of testing outweigh the harms. Here, the ethical question of whether all patients have the right to testing for PGVs is considered.

摘要

一旦个体被确定为遗传性癌症易感基因或致病性种系变异(PGV)的携带者,就有一些措施已被证明可以在更早、更可治愈的阶段预防和诊断相关癌症。因此,接受检测的患者会获得对其生活以及选择接受检测的家庭成员的生活产生深远影响的机会和医疗保健信息。多年来,关于是否应为所有患者提供癌症易感PGV的种系检测这一争议性话题的辩论,主要围绕检测方法的分析敏感性问题(即检测正确识别携带PGV者的能力)、被确定为PGV携带者的法律影响、医疗保健系统的成本以及检测结果不确定的管理影响。目前,护理标准是向检测预期益处超过危害的个体提供检测。在此,考虑了所有患者是否有权进行PGV检测这一伦理问题。

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