The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them

by Euan Angus Ashley

Overview

In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease.

Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley’s team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000.

For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human.

In The Genome Odyssey, Dr. Ashley details the medicine behind genome sequencing with clarity and accessibility. More than that, with passion for his subject and compassion for his patients, he introduces readers to the dynamic group of researchers and doctor detectives who hunt for answers, and to the pioneering patients who open up their lives to the medical community during their search for diagnoses and cures.

He describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome.

These patients inspire Dr. Ashley and his team as they work to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, where medicine can be tailored to treat specific diseases and to decode pathogens like viruses at the genomic level, and where our medical system as we know it has been completely revolutionized.

Product Details

ISBN-13:	9781250234995
Publisher:	Celadon Books
Publication date:	02/23/2021
Pages:	400
Sales rank:	521,582
Product dimensions:	6.30(w) x 9.30(h) x 1.30(d)

About the Author

Euan Ashley is a professor of medicine and genetics at Stanford University. He was born in Scotland and graduated from the University of Glasgow. He attended Oxford University, completing a Ph.D. there before moving to Stanford University, where he trained in cardiology, led the team that carried out the first medical interpretation of a human genome, and holds the Roger and Joelle Burnell Chair in Genomics and Precision Health. Ashley has received awards from the National Institutes of Health and the American Heart Association. He was recognized by the Obama White House and received the Medal of Honor from the American Heart Association.

Dr. Ashley’s articles have appeared in many journals, including Lancet, the New England Journal of Medicine, the Journal of the American Medical Association, Nature, and Cell. He appears regularly on local and national radio and TV. He is the founder of three companies and advisor to several Silicon Valley companies. With three young children, he spends his spare time trying to understand American football, playing the saxophone, and conducting research on the health benefits of single malt Scotch whisky.

Table of Contents

Preface ix

Part 1 The Early Genomes

1 Patient Zero 3

2 Team of Teams 19

3 Once Removed 39

4 Genome Illumination 48

5 First Family 56

6 Buffalo Buffalo Buffalo 62

7 Starting Up, Reaching Out 74

Part II Disease Detectives

8 Undiagnosed 91

9 The Luck of the Irish 103

10 Next-Day Delivery 113

11 Hoofbeats in Central Park 121

Part III Affairs of the Heart

12 Whisky à Go-Go 143

13 How Many Genomes Are You? 156

14 Shake, Rattle, and Roll 170

15 River of the Land of Pine Trees 196

16 Songs in the Key of Life 223

Part IV Precisely Accurate Medicine

17 Superhumans 245

18 Precision Medicine 264

19 Genome Surgery 291

20 The Road Ahead 318

Acknowledgments 333

Notes 337

Index 369

Editorial Reviews

11/23/2020

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. (Feb.)

Publishers Weekly

01/01/2021

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

Library Journal

2020-11-05
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.

Kirkus Reviews

This wonderful page-turner captures the excitement, peril, wonder and anticipation of the so-called “genomics” era — the era that has begun us to allow us to sequence the entirety of DNA carried within our bodies, and to understand the functions of parts of this genome. Dr Ashley, one of the pioneers of gene sequencing technologies, writes with authority, elegance and simplicity to enable an in-depth understanding of the most exciting scientific developments of our times. Every curious reader must read this book.”
—Siddhartha Mukherjee, Pulitzer Prize-winning and #1 New York Times bestselling author of The Emperor of Maladies and The Gene

“The Genome Odyssey is destined to be a landmark narrative in the canon of modern science. Like Ulysses, Ashley has had a front row seat on this journey by virtue of his own scientific work which has been instrumental in bringing us to this place of great precision in diagnosis. Ashley's prose is brilliant and makes for compelling reading."
—Abraham Verghese, New York Times bestselling author of Cutting for Stone, Professor and Senior Associate Chair of Internal Medicine, Stanford University

"Cracking the genome's code to solve medical mysteries requires a special kind of detective work, and The Genome Odyssey walks us through the most nerve-wracking, heart-in-your-throat cases to show us how it's done. With a storyteller's flair and a doctor's devotion, Euan Ashley explains a host of astonishing breakthroughs, each accomplished with human lives on the line. Taken together, his and his colleagues' work will leave you breathless."
—Robert Kolker, #1 New York Times bestselling author of Hidden Valley Road

"Dr. Euan Ashley's book opens a window into the future of medicine and shows us firsthand how genetic information is transforming lives. In The Genome Odyssey, he shares compelling stories of real patients facing rare diseases and the life-changing breakthroughs made possible by decoding their full genetic makeup."
—Anne Wojcicki, Co-founder and CEO of 23andMe

“I have known first-hand the heart ache wrought by rare and undiagnosed disease. I have also seen up close the power of the human genome to provide answers and, in time, treatments to families affected with genetic disease. In this book, one of the world’s foremost experts lays out the astonishing advances in our application of the human genome to medicine. The science is thrilling. The hope and compassion Professor Ashley brings to his patients and to his subject matter are compelling. Political leaders should take note if they want to ensure their countries harness the power of the human genome and stay in the vanguard.”
—The Right Honourable David Cameron, Former Prime Minister, United Kingdom, and Initiator of 100,000 Genomes Project, Genomics England

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