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

Dr. Euan Angus Ashley

Feb 2021 · Sold by Celadon Books

About this ebook

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.

Ratings and reviews

This was quite the book! Lots of tiny details to read about the great genome research. I did have a tendency to gloss over some of the technical details when it talked about things like NGLY1 or PhiX174 but I could tell that the author was well versed and knew what he was talking about. I did enjoy the stories of finding the genes to explain certain genetic disorders that started up later on in the book when the author worked with the Undiagnosed Diseases Network and were able to help so many kids. I thought it was cool that once some of the genes were discovered that caused the issues, that sometime the solution to get everything working again was buying a common supplement or vitamin off of Amazon. It boggled my mind how far science has come to learning about the human body and how it all works. It was definitely an odyssey for this genome and this book makes me interested in seeing what is next for the study of genes!

Thank you to Celadon books for an ARC of The Genome Odyssey. This book was a fascinating exploration of advances in genetics and genomics and their applications in medicine. The first section summarizes the history of researching and sequencing the human genome. The middle sections focus on the application of genomic medicine to individual patients, primarily those who have undiagnosed diseases and those with genetic cardiac conditions. It is interesting to learn how many medical mysteries have been solved by sequencing the patient's genome. The final section explores recent advances in genomics, including CRISPR, and the possibilities for future therapies. The Genome Odyssey is well-written, fascinating and relatable, especially with the descriptions of individuals and their families who have benefited from genomic science. The scientists and doctors involved in this field are brilliant and dedicated and I enjoyed reading about them. The author makes a good point about the fiscal side of genome sequence. Although the testing is costly, having a specific diagnosis often saves thousands spent on other diagnostics and therapies. I highly recommend this book if you are interested in genetics, medicine, medical mysteries and science. #GenomeOdyssey #CeladonReads #partner @CeladonBooks

This was quite the interesting look at the first cases of genome sequencing that went from super expensive millions of dollars to only thousands and then few hundred dollars that it is today. I liked the Ferrari analogy that was used to explain this. It starts out with details of the first case not in the millions range being Steve Quake (Patient Zero for the author) and got a cool glimpse into how it was used to individualize his treatment for a heart condition. Also building on it with Richie and figuring out cause of death and the family of John West with blood clots and then on to other interested people. The beginning was very sciencey but it got easier once I got to the cases that were helped at the Center for Undiagnosed Diseases. Those were interesting and it was cool to see how the advance with the study of the human genome was able to help so many people. In summary, this book describes the revolution of the genome and the many people it took to get it up and going. It is definitely not a book that you can just speed through though. Very detailed and well researched. You can see that the author put a lot of effort into it with history going back decades till today.

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.