The son of a Scottish physician, Dr. Ashley displays an infectious enthusiasm for medicine throughout his chronicle, and he delights in side-journeys into the history of technologies like the electrocardiogram and the defibrillator ... Dr. Ashley’s ardent positivity propels his story though at times threatens to overtake it ... Still, as a physician at the cutting edge of the genomics revolution, Dr. Ashley is aware—more acutely than most—of the limitations of science. He shares the stories of brave patients like Bertrand Might, whose parents worked heroically to establish a diagnosis, cultivate a community and search for a cure ... As much as Dr. Ashley cheers the remarkable progress of genetic medicine over the past two decades, and believes more wondrous advances are on the way, the patients at the center of his world keep him grounded, reminding him—and us—how far genetics still has to go.
While the science is impressive and the health-care team devoted, the patients are the heroes ... Ashely discusses the NIH Undiagnosed Diseases Network, pharmacogenomics, superhuman mutations, precision medicine, and a molecular autopsy of heart tissue, offering a peek at the promise of genetic therapy now and in the near future.
While Ashley highlights several emotional and moving stories of patients, the title’s primary focus is on the scientific aspect of genetic medical treatment. Readers seeking up-to-date information on genomic science and technology will be richly rewarded ... This engaging, accessible book will appeal to anyone interested in medical ethics, genetic disease, and the use of cutting-edge science and technology within the field of medicine. Recommended for all libraries.
... enthusiastic ... the author offers numerous intriguing descriptions of brilliant scientists in this field and their work on individual genomes ... 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.
... surprisingly moving ... Stories of [Ashley's] patients bring the science to life ... The concern he shows for his patients and the camaraderie he shares with his collaborators is touching. By providing insight into the people undertaking this critical work, Ashley has created a study that is at once personal and informative.