Rogowski Wolf H, Grosse Scott D, Khoury Muin J
Helmholtz Center Munich, German Research Center for Environmental Health, Ingolstädter Landstrasse 1, Neuherberg 85764, Germany.
Nat Rev Genet. 2009 Jul;10(7):489-95. doi: 10.1038/nrg2606.
Research in genetics and genomics has led to an expanding list of molecular genetic tests, which are increasingly entering health care systems. However, the evidence surrounding the benefits and harms of these tests is frequently weak. Here we present the main challenges to the successful translation of new research findings about genotype-phenotype associations into clinical practice. We discuss the means to achieve an accelerated translation research agenda that is conducted in a reasonable, fair and efficient manner.
遗传学和基因组学研究催生了越来越多的分子遗传学检测方法，这些检测方法正日益进入医疗保健系统。然而，关于这些检测方法利弊的证据往往并不充分。在此，我们阐述了将有关基因型-表型关联的新研究成果成功转化为临床实践所面临的主要挑战。我们探讨了实现以合理、公平且高效的方式开展加速转化研究议程的方法。
