The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them by Euan Angus Ashley

 

I have been interested in genome research since I first heard about it. As a genealogy researcher, I am curious about what we inherit from our ancestors. I seek out family resemblances and inherited traits, finding my eyes in one relative, my body type in another. 

I wonder what health issues I inherited, or did not inherit. My mother had autoimmune diseases, and so do I. My grandfather had horrible ragweed allergies, and so does our son. My father had non-Hodgkin's lymphoma, and so does my cousin. My aunt and her two children struggled with alcoholism. Two grandfathers (aged 52 and 68) and an uncle (age 34) died of heart attacks. 

For some people, their genes are secret time bombs. A healthy athlete suffers a sudden heart attack and dies. A baby's normal progress stops, and even regresses. 

What if there was a test that could warn us of impending or likely health issues so doctors could be prepared to remedy or even cure them? What if it was affordable for everyone? What if if was part of our normal preventative health care insurance?

This could be reality.

The Genome Odyssey is a fascinating narrative of Dr. Ashley's research in genome sequencing and how it was applied to solve medical mysteries. 

The science is very accessible in presentation, so that even non-medical folk like myself can understand how genes and sequencing works. The personal stories of those whose lives were changed through genome sequencing  and genetic therapy are affecting. For some, simple OTC supplements changed their life.

The author addresses the current Sars-CoV-2 pandemic, telling how the scientific community swung into action even as governments floundered, and explaining how vaccines was developed and how the different kinds work on the virus. 

"Could even more widespread use of genomics have gotten us further ahead of this pandemic to begin with?", he asks. He notes that wastewater can predict which community will have the next rise in infections. If we systematically tested wastewater the way we test drinking water, we could be prepared to prevent disease flareups.

In a capitalist, profit-driven health system, the question is who will pay. Will the rich only benefit, or those victims of rare diseases who are covered by research grants? Another issue to be addressed is the privacy of genome information and its use. Ashley adds, "Just because we can, doesn't mean we should. Nor does it mean that we can afford it."

Yet the possibilities of what doctors will be able to do in the future are endless.

I received an ARC from the publisher through Bookish First. My review is fair and unbiased.

The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them 
by Euan Angus Ashley, MD, PhD
Celadon Books
Publication Date: February 23, 2021

hardcover $26.99; ebook $14.99
ISBN 9781250234995

from the publisher

“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

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.