The cost of whole genome sequencing has dropped drastically since the completion of the Human Genome Project in 2003. A process that previously cost billions is now possible for less than one thousand dollars. Dr. Euan Angus Ashley illustrates this vast decrease with the staggering analogy that a change of the same magnitude would decrease the cost of a Ferrari from $350,000 to merely forty cents. Dr. Ashley, a dual professor of cardiology and genetics at Stanford, also leads the Stanford branch of the Undiagnosed Diseases Network. In “The Genome Odyssey,” he delves into a brief history of genomic medicine from his firsthand perspective as a clinical and research cardiologist. Dr. Ashley clearly and comprehensively covers everything from Sanger sequencing to precision medicine using patient cases.
“The Genome Odyssey” is neatly divided into four parts: I. The Early Genomes, II. Disease Detectives, III. Affairs of the Heart, and IV. Precisely Accurate Medicine. Part I, The Early Genomes, begins in 2009 when Dr. Stephen Quake, Ashley’s colleague, shares his own sequenced genome with Dr. Ashley. Using technology he had invented, Quake sequenced his genome in one week’s time for $40,000. Astounded, Dr. Ashley serendipitously identifies a disease-causing variant in a gene known to cause cardiac disease. He subsequently reviews Quake’s medical and family histories and immediately refers him for cardiac evaluation. What seems to be a monumental moment in medical history becomes the first of many cases in which genome sequencing plays a crucial role in obtaining diagnoses, often before the patient ever displays signs of their condition.
Parts II and III describe how Dr. Ashley, his team, as well as other scientists and medical professionals use patients’ genetic sequences to diagnose otherwise unknown conditions. Many of these patients spent years coping with an undiagnosable condition before the advent of genome sequencing. Part III focuses on Dr. Ashley’s cardiology patients and how pertinent genetic information enables him to make challenging diagnoses and determine when patients are predisposed to cardiac disease.
In Part IV, Dr. Ashley alludes to the future of treatment: precision medicine. This section also discusses “superhumans,” people otherwise protected from disease by their genetic code. Imagine genetic variations that naturally decrease bad cholesterol, increase red blood cell volume or decrease sensitivity to pain. These individuals provide clues into which genes are implicated in everyday medical indications. Sequenced “superhuman” genes can be studied with possible application as future medical treatments.
Anyone seeking to understand the landscape of genomics and its future roles in medicine will enjoy “The Genome Odyssey.” Dr. Ashley’s work is easily digestible, making it ideal for readers with varying levels of genomic knowledge.