Phoenix D D, Lybrook S M, Trottier R W, Hodgin F C, Crandall L A
Department of Health Sciences, College of Nursing, Clemson University, South Carolina, USA.
J Natl Med Assoc. 1995 Nov;87(11):807-12.
The Human Genome Project holds much promise for providing dramatic improvements in our understanding of and means to diagnose and treat many diseases. As this enormously important endeavor proceeds, research on ethical, legal, and social implications of this new science is being conducted to forecast problems and recommend policy option solutions to avoid what might otherwise become adverse consequences. Sickle cell screening is an example of a technology that was introduced in a manner that raised poignant issues. On the basis of sickle cell issues, we examined policy issues likely to occur as new genetic technologies are incorporated into medical practice. Discussion and development of a national consensus on the appropriate content and just delivery of public sector genetic services is vital; otherwise, the impact of Human Genome Project-derived technology may result in misadventures that amplify problems currently evident in newborn screening programs. New DNA-based diagnostic technologies and therapies will soon enter the stream of commerce. The recommendations offered here, while based on examination of sickle cell disease policies, are intended to address both current inequities as well as potential future issues related to stigmatization and distributive justice.
人类基因组计划有望极大地增进我们对许多疾病的了解，并为疾病的诊断和治疗提供手段。随着这项极其重要的工作不断推进，人们正在对这一新兴科学的伦理、法律和社会影响进行研究，以预测问题并推荐政策选择解决方案，避免可能出现的不良后果。镰状细胞筛查就是一个以引发尖锐问题的方式引入的技术实例。基于镰状细胞问题，我们研究了随着新基因技术融入医疗实践可能出现的政策问题。就公共部门基因服务的适当内容和公正提供达成全国共识的讨论和发展至关重要；否则，人类基因组计划衍生技术的影响可能会导致不良后果，加剧目前新生儿筛查项目中明显存在的问题。新的基于DNA的诊断技术和疗法很快将进入商业流通领域。这里提出的建议虽然基于对镰状细胞病政策的研究，但旨在解决当前的不平等问题以及未来与污名化和分配正义相关的潜在问题。
