Nelson W B, Swint J M, Caskey C T
Am J Hum Genet. 1978 Mar;30(2):160-6.
The resolution of policy questions relating to medical genetic screening programs will not be without considerable difficulty. Examples include such issues as the optimal degree of screening program expansion, the relative values of screening for different genetic diseases, the appropriate sources of program funding (public vs. private), and the relative value of funding expanded genetic screening programs vs. research directed toward elimination of genetic traits themselves. Information on the net impact of the relevant alternatives is greatly needed, and this need will increase if the National Genetics Act receives funding approval. We have provided what is hopefully a contribution toward this end. While our analysis pertains to a specific disease and a specific screening program for that disease, the methodology is readily generalizable to other genetic diseases, as well as programs of any size or structure. Hopefully, this will serve to stimulate further research efforts that we believe are needed for the objective consideration of resource allocation alternatives.
解决与医学基因筛查项目相关的政策问题并非易事。例如,这些问题包括筛查项目扩大的最佳程度、针对不同遗传疾病进行筛查的相对价值、项目资金的合适来源(公共资金与私人资金),以及为扩大基因筛查项目提供资金与资助旨在消除遗传特征本身的研究的相对价值。非常需要有关相关替代方案净影响的信息,如果《国家遗传学法案》获得资金批准,这种需求将会增加。我们希望为此做出了一份贡献。虽然我们的分析涉及一种特定疾病及其针对该疾病的特定筛查项目,但该方法很容易推广到其他遗传疾病以及任何规模或结构的项目。希望这将有助于激发我们认为对客观考虑资源分配替代方案所需的进一步研究努力。