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

Feb 28, 2021 David Rubenstein rated it it was amazing

Shelves: medicine, technology

This is a fantastic book about using DNA to develop personalized treatments for patients with rare diseases. Dr. Ashley is a cardiologist, and at Stanford, he is a professor of medicine and genetics. He uses genomic medicine to predict what treatments are best for individuals with diseases. He uses the patient's DNA, along with that of the patient's family and a DNA database that he helped develop. It is personalized genetic medicine.

And the author belongs to the UDN--the Undiagnosed Diseases N This is a fantastic book about using DNA to develop personalized treatments for patients with rare diseases. Dr. Ashley is a cardiologist, and at Stanford, he is a professor of medicine and genetics. He uses genomic medicine to predict what treatments are best for individuals with diseases. He uses the patient's DNA, along with that of the patient's family and a DNA database that he helped develop. It is personalized genetic medicine.

And the author belongs to the UDN--the Undiagnosed Diseases Network. This is a diverse network of doctors and genetics researchers who team together to solve very difficult cases and develop individualized treatments. The UDN is successful because of NIH support, because the tests involved are not limited to those covered by medical insurance. In addition, genetic sequencing of family members allows researchers to narrow down the list of suspect genes. Ultimately, the extra genetic testing ends up saving a lot of money by avoiding extra days in an ICU. Before coming to the UDN, medical costs averaged over $300,000. UDN evaluation is less than $20,000. Early diagnosis can be transformative.

The book stresses the importance in the Bayh-Dole Act of 1980, which allows U.S. universities to benefit financially from intellectual property developed with federal research funds. This act allowed the swift development and refinement of DNA sequencing and genome analysis.

Sherlock Holmes is mentioned a number of times, as this book is a collection of real detective stories. For example, there is an amazing story about a young family that had a baby with a rare genetic defect that caused huge developmental issues. They undertook numerous trips to get genetic diagnoses, and enlisted the help of two genetics teams to independently seek the genes that cause the disease. The teams agreed on one particular defective gene as the culprit. The father also did a lot of biochemistry research, and found that the gene breaks down a bond between a particular protein and a sugar molecule. Then he found that Amazon sells that particular sugar in a supplemental tablet form. He tried out the tablet on himself with no significant ill effects. He then tried it out on the baby at a correspondingly lower dosage--and it worked! The genome analysis of the baby and the parents had other benefits as well; the teams concluded that a second baby would not be likely to acquire the same disease. This was confirmed early in a subsequent pregnancy, that the genetic variant was not present. Then the parents set up the Grace Science Foundation, to help families and researchers working on that gene. There are now over 50 patients worldwide with this illness. While patients are not 100% cured, their lives have been greatly helped.

The author uses wonderful analogies to help readers understand how the rare illnesses are caused by genetic defects. These analogies really help puts this book into a league of its own. They help deepened my understanding of the biochemical concepts.

One of the great advantages of genomics (the analysis and understanding of a genome), is that it helps to prove cause and effect. This is an invaluable aid in the pharmaceutical development of new medicines. The book has an excellent discussion of the dichotomy between correlation and causation. Many of our assumptions about medicine are faulty. For example, the author shows why taking medication to boost the HDL cholesterol level and thereby lower the LDL/HDL ratio does not reduce heart disease. There is a correlation between low ratios and lower risk of heart disease, but not a causative mechanism. This new understanding comes from massive genomic studies. This book is up-to-date; the development of the new vaccines against the coronavirus is discussed.

I love to read scientific books where the author conducts a significant amount of research in the field. It is so much more engaging when the author writes "I discovered ..." or "we found that ..." instead of "they found that ...". My predilection for this type of book is conditioned on whether the book is well-written. In this case, Dr. Ashley is not only a great researcher, but a phenomenal author; he makes complex stories come alive.

(Truth in advertising: I received this book as a pre-publication copy, in return for an honest review.) ...more

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Sep 04, 2023 CatReader rated it really liked it

Shelves: cnet

3.5 stars rounded up. As a fellow MD/PhD practicing in genomics, I thought Dr. Ashley did a very nice job of writing an engaging, fascinating book about his area of clinical focus, cardiovascular disease with germline origin/predisposition. I loved how he integrated so many patient stories into his work, and gave his impressions about the future of the field with the introduction of genetic therapies, direct-to-consumer genomics companies, and many of the ways in which our genetic makeup will pe ...more

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Mar 29, 2024 Alyssa Tuininga rated it it was amazing

Shelves: physical-books-i-have, science, nonfiction

Fantastic book about using genetics to figure out rare genetic disorders. Well researched, well organized and easy to read. Outstanding book for a lay person to a science nerd. He gives lots of stories of patients to help explain.

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