The Genome Odyssey

November 23, 2020
Ashley, Professor of medicine and genetics at Stanford, debuts with a surprisingly moving take on the history and potential of genome squencing. He opens by musing on how wonderful it would be “if your doctor could actually peer into your genome and choose the medication and dose that was right for you.” Using stories of his patients “whose care has been transformed by knowledge of their genome,” and describing scientific teams he has led, Ashley breaks down the history of developments in medicine involving the genome, bringing it up to the present. Along the way, he explains DNA sequencing, basic genetics, and biochemistry. Stories of his patients bring the science to life, such as one about a baby born in 2014 whose heart stopped the day she was born; genome sequencing allowed the doctors to identify the cause of her condition and save her life. The concern he shows for his patients and the camaraderie he shares with his collaborators—among them coworker Stephen Quake, “the first patient in the world to walk into a doctor’s office for a checkup with his genome”—is touching. By providing insight into the people undertaking this critical work, Ashley has created a study that is at once personal and informative. Agent: Mary Evans, Mary Evans Inc.

December 1, 2020
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.

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December 1, 2020
The potential of genomic medicine for predicting diseases prior to their manifestation and precisely intervening to modify or eradicate them is astounding. In his examination of the burgeoning field of gene-based medical care (testing, diagnosis, counseling, and treatment), cardiologist Ashley acquaints readers with inspirational patients suffering from inherited heart diseases, his colleagues, and researchers. While the science is impressive and the health-care team devoted, the patients are the heroes. Most are children and young adults with rare genetic conditions, including metabolic disorders, heart rhythm disturbances, cardiac tumors, and the abnormal enlargement of heart muscle. Ashley labels the patients' plight a ""medical odyssey,"" given their emotional journey of uncertainty and self-doubt, isolation and suffering. The ""doctor detectives"" treating them often rely on faint clues and powers of observation rivaling the acumen of Sherlock Holmes, but their efforts are ultimately bolstered by the enormous data generated by gene sequencing. 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.

COPYRIGHT(2020) Booklist, ALL RIGHTS RESERVED.

January 1, 2021

Over the past decade, the field of genomics has revolutionized the practice of medicine, and the treatment of genetic diseases in particular. Sequencing part or all of a patient's genome can give doctors the ability to pinpoint the causes of disease and offer targeted, personalized treatments. Ashley has been on the front lines of this revolution at his clinic for genetic cardiac diseases at Stanford. Here, he provides an overview of the rapid changes in technology that have made genomic advances possible, and introduces readers to some of the major players in the collaborative effort by scientists and doctors around the world to investigate genetic disease. The author also addresses some of the main ethical, psychological, and financial repercussions of genomic medicine and is refreshingly willing to admit that doctors don't have all the answers yet. 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. VERDICT 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.--Kelsy Peterson, Forest Hill Coll., Melbourne, Australia

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