Genomic Medicine: Putting Our Tools to Use

In the News Focus story “Waiting for the revolution” (4 February, p. [526][1]), E. Marshall discussed the use of genetic diagnostics in medicine. However, an analysis of the medical genetics revolution should focus not only on diagnostics but also on genetic manipulation. The genetic revolution is well under way in microbes and invertebrates. It's even enjoying great progress in mice and moderate progress in rats. The real progress in these organisms has come not from the ability to read their genes; rather, it is a result of our ability to write them. Improving modern treatments, including pharmaceuticals, based on genetic differences is certainly a valuable addition to our medical toolbox. But I predict that the advent of genetic manipulations in humans—whether in embryos or in adults, whether transient or permanent, whether purely genetic or epigenetic—will be considered the real beginning of the genetic revolution. Before we proceed down this road, we must address numerous risks and ethical questions. But we cannot experience any sort of genetic revolution in human medicine until we push through these obstacles and address the benefits to humanity of repairing the aberrantly expanded HTT gene in a middle-aged Huntington's patient or knocking in a copy of the CFTR gene in a child suffering from cystic fibrosis. Diagnostics are just viewing the toolbox through a window. Eventually, we'll need to figure out how to safely pick up the tools and make good use of them. [1]: /lookup/doi/10.1126/science.331.6017.526