Holtzman N A
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, USA.
Environ Health Perspect. 1996 Oct;104 Suppl 5(Suppl 5):987-90. doi: 10.1289/ehp.96104s5987.
This article is intended to acquaint those whose principal concerns are the health and safety of workers with genetic screening and some of the medical and ethical issues it raises. Population-based genetic screening increasingly is being considered for predicting future disease in the person being screened. A major problem in screening for alleles that contribute to the development of common, multifactorial disorders is low sensitivity and positive predictive value. In many instances, no demonstrably effective prophylaxis or treatment is available to help those with positive test results. This creates ethical problems of assuring that testing is in the person's best interest and raises in turn issues of autonomy, discrimination, and privacy. Instead of screening for genetic predispositions to harm from workplace exposures, other means of improving the health of workers may bring greater benefits to a higher proportion of workers. The current state of genetic tests for chronic beryllium disease are considered. None are suitable for screening.
本文旨在让那些主要关注工人健康与安全的人了解基因筛查以及它所引发的一些医学和伦理问题。基于人群的基因筛查越来越多地被用于预测受检者未来的疾病。在筛查导致常见多因素疾病发生的等位基因时，一个主要问题是敏感性和阳性预测值较低。在许多情况下，对于检测结果呈阳性的人，没有明显有效的预防或治疗方法。这就产生了确保检测符合个人最大利益的伦理问题，进而引发了自主性、歧视和隐私等问题。与其筛查因工作场所接触而导致伤害的遗传易感性，其他改善工人健康的方法可能会给更高比例的工人带来更大的益处。文中还考虑了慢性铍病基因检测的现状。目前没有一种检测方法适用于筛查。
