The new director of the National Institutes of Health and former leader of the government’s project to map the human genome is upbeat about personalized medicine—using genetics and family history to determine your risk for disease and designing appropriate treatments accordingly.
Collins (The Language of God: A Scientist Presents the Evidence for Belief, 2006) anonymously investigated three leading commercial firms offering genetic analyses by sending them a cheek swab or saliva sample to be measured against gene variants associated with a range of diseases, as well as sensitivity to some commonly used drugs. Gratifyingly, the firms were consistent in their results, although the costs ranged from a few hundred to a few thousand dollars. Already Collins has adopted some lifestyle changes to improve his odds of avoiding conditions for which he is at risk. His point is that personalized medicine is here now, even though scientists have just scratched the surface of conditions for which genetic risk can be identified. Soon the science will accelerate and the costs will come down. Unfortunately, there are no cures for Huntington’s or Alzheimer’s disease, so some people may not want to know their risk. Others may want to know if they or an intended spouse are carriers of a recessive disease. Indeed, there are many moral/ethical issues that Collins raises as he reviews the science. He is a first-rate, entertaining expositor, taking the reader through Genetics 101 and providing case studies about genetic medicine in relation to common cancers, aging, the brain, infections and immunity. One striking case was that of an AIDS patient with leukemia who received a stem-cell transplant from a donor with a mutation preventing the AIDS virus from infecting immune cells. The transplant took and the patient was cured of his leukemia and AIDS. Collins does not demean the role of environment and accidents in his enthusiasm for personalized medicine, and he only lightly treads on issues of genes for sexuality, intelligence, etc., professing skepticism.
Even if readers aren’t ready to swab their cheeks today, they will learn a lot about the current state of DNA science and its potential.