The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment by Jessica Wapner

The Philadelphia Chromosome by Jessica Wapner is placed partially on top of a silver matchbook with stickers and partially on a chunk hand-woven grey and blue blanket that is reminiscent of chromosomesWhereas my last review was for a book focused more on the individuals and retelling of an important historical period, this next book seamlessly blends the stories of the individuals and researchers with that of the science they were involved in. The Philadelphia Chromosome: A Genetic Mystery, a Lethal Cancer, and the Improbable Invention of a Lifesaving Treatment by Jessica Wapner tells a detailed story that spans from the discovery of a DNA mutation to the creation and implementation of a therapy to treat individuals afflicted with the cancer caused by said mutation. Wapner paints a very vivid scene of one individual who was diagnosed with the cancer, a type of leukemia, going in for a check-up following treatment with the therapy that could save his life. As a scientist who is used to working with blood samples, I know that bone marrow samples must be retrieved during check-ups for leukemia patients. Even still, when Wapner colorfully describes the gruesome bone marrow retrieval process, I’ll admit that I got a bit queasy. Eventually, we are invited into the immense relief that individual experienced when he was told the therapy was working and he had years more to live that he had never anticipated having. The story-telling here and in the rest of the book is masterful in the sense that we begin to fully appreciate the plight of these leukemia patients and just how important science and the resulting therapy was for them.

This book is about a particular genetic mutation (The Philadelphia Chromosome) that involves the movement of a piece from one chromosome to another, which then drives the formation of a type of leukemia or blood cancer. Starting from the discovery of the mutation in 1959, Wapner details every step along the way to the eventual creation and use of the therapy (2001) called Gleevec that targets this mutation and more often than not, halts the progress of the leukemia. Such a lengthy scientific history might seem daunting or too difficult to read, but Jessica Wapner simplifies each scientific term or concept every time a new one arises. On top of that, at the back of the book there’s an abbreviated and dated timeline to help orient readers, as well as a comprehensive glossary to redefine anything that the reader may have forgotten. What I also found really helpful for any potential non-science readers were the figures in the middle of the book, which provided cartoon depictions of the more complicated concepts or processes discussed in the book. Perhaps what’s more present than the science itself are the depictions and stories of the relative army of individuals, both scientists and patients, who were involved in this nearly 50-year odyssey to create a drug that saves countless lives.

The sense you get when reading this book is just how serendipitous a lot of the discoveries were. Originally when the mutation was identified, it was believed that a chunk was just missing from one chromosome, making it abnormally small. But it took one scientist, Janet Rowley, learning a new technique to image chromosomes, for it to be made clear that it was really one chunk moving from one chromosome to another. Other scientists integral in this history were in the right place at the right time: like those that were at an institution because they originally were studying the effects of nuclear fallout, or those that went to work for the government at the National Institutes of Health to avoid being drafted in the Vietnam war, or those who fortuitously worked on a floor above or below future collaborators or experts in a particular niche subject that was necessary to piece each aspect of the mystery of this mutation together. Throughout the book you can see all of the little pieces being figured out, but it takes special encounters with the right person to really put everything together and do something useful with that information. This process creeps along over the years and even when we figure out what is wrong, science hits another roadblock in the way of drug design and testing. The immense sum of money that goes into the initial research is further amplified at this point; one drug often takes upwards of 15 years and hundreds of millions to billions of dollars to create and get onto the market. In the case of Gleevec, drug design first began in the 1980s, and it wasn’t until the early 2000s that the final drug compound was approved and put onto the market. With odds like these, it’s a wonder that any drug is created and available for use. The dauntless work of scientists, and even patients in the case of this drug, keeps the process trickling along with the hopes that one day it could make a positive impact on someone’s life.

The Philadelphia Chromosome, the mutation at the center of Wapner’s book, is one of the great success stories of applying science in order to improve patient health. It was the first mutation identified that directly caused a cancer and was then targeted with an effective drug. After the discovery of this mutation, the world realized just how much of a genetic disease cancer was and set out to treat it and study it as such. Countless other discoveries happened because of this new mindset and cancer treatment, while still brutal most times, has begun to change and become ever more targeted towards each particular cancer and its characteristics. The potency of Gleevec and the subsequent survival of patients who used to accept death with their diagnosis gave a lot of people hope for the future of science and medicine. We may not have had such robust successes with new drugs since Gleevec, but the passion of scientists is still there. Quotes in the book like the one from Naomi Rosenberg in 1973 about why she went into the field she did “The idea that something so small could have such devastating consequences – I just find it fascinating” particularly resonated with me because almost 30 years after she said that, I said almost the same thing for why I wanted to study DNA. The drive to figure out every detail of a problem will always be present in generations of scientists, and eventually, we’ll find better solutions to cancer treatment.