An enthusiastic report on the state of the field of genomics.
Observers predicted miracles following the discovery of the genetic code in the 1950s, genetic engineering in the 1980s, and sequencing the human genome in 2003. Now, we are beginning to reap the rewards of that work. Cardiologist Ashley, professor of medicine and genetics at Stanford, makes a convincing case that the floodgates are opening. From several billion dollars in 2003, the cost of sequencing an individual genome has dropped to under $1,000. “Today, a physician can order a genome almost as easily as ordering a cholesterol test,” writes the author. “Health insurance companies increasingly list it as a covered benefit, acknowledging that transformative insights can emerge.” Although essential, knowing the makeup of every gene is only a first step. After explaining how that was achieved, Ashley describes how he and fellow researchers are learning what each gene accomplishes (a process well along), what happens when they malfunction (some progress), and how to fix them, which is more difficult and frustrating. But there is light at the end of the tunnel, as the author offers numerous intriguing descriptions of brilliant scientists in this field and their work on individual genomes. One major advance was the 2008 establishment of the NIH Undiagnosed Diseases Program, which devotes government money to the research of previously unknown genetic abnormalities. Ashley goes on to describe several bizarre cases, which, after a great deal of investigation, turned out to be the result of a defective gene. These make fascinating reading, but readers may suspect that this is another expert account of a spectacular technological development that raises the possibility of curing disease…but not quite yet. The final chapters are particularly interesting, as the author describes efforts to repair defective genes that have, in the past few years, permanently improved the lives of victims of a few rare diseases, even common ones such as hemophilia.
An excellent update on genomic medicine, which is finally bringing home the bacon.