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

The genome odyssey: a colorful book cover highlighting a journey through medical mysteries and genomic solutions, authored by renowned physician-scientist dr. euan angus ashley.

From Dr. Euan Angus Ashley, Professor of Medicine and Genetics at Stanford University, comes The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them. With clarity and accessibility, Dr. Ashley details the groundbreaking medicine behind genome sequencing, introducing 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.

In the following excerpt, Dr. Ashley relates the story of his patient, Eric Dishman, who battled a mystery cancer for decades, until precision medicine produced a breakthrough that changed his life.


By the time I met Eric in 2015, he was a seasoned professional in the prime of his career. He had spent the past several years of his life at Intel as vice president of the Health and Life Sciences group, thinking up ways technology could improve the health care experience and, specifically, make it more patient-centered. As we sat having breakfast at Peet’s Coffee in the Clark building at Stanford one morning in the summer of 2018 (he was giving a talk a couple of hours later at our annual Big Data in Biomedicine conference), he pulled out a handful of pill bottles and plopped them on the table. “Burdens of being a transplant patient,” he said with a rueful smile as he swallowed a handful of pills. “At least I’m alive.” He laughed. Later, in his talk, he added a more celebratory note: “I just turned fifty! I mean, it’s a miracle I turned fifty. I was never supposed to turn twenty, thirty, or forty.”

In person, Eric is warm, gracious, with an infectious laugh and a relaxed conversational style. Yet you can feel, just below the surface, a fierce sense of urgency to make a difference, to really use this time he’s been given to give back. He is prone to phrases like from an “impatient” patient perspective.

As it happened, the doctors never really worked out what type of tumor Eric had. After the conversation in the Duke library that day with his friend, he changed his approach. He would take all the chemotherapy, but he would live every day to the fullest. He no longer listened when doctors told him his time was limited. What did they know?

After ten years of chemotherapy and being told pretty much every year that he wouldn’t live another year, he was also ready to dictate the terms of his acquiescence. He went to his doctors and asked if, from now on, they would tailor the chemotherapy regimens to his love of the mountains and especially his love of winter sports. Since electronic health records don’t generally have a field for patient goals, he asked them to put his preferences in the “Nickname” field. From then on, he wanted his record to read, “Eric Dishman (optimize for snow time).” And if that didn’t fit, he requested, “Eric Dishman (Snow Dude).” He had a point. So much of medicine is organized around the existing culture, history, and traditions of doctors. It is not focused on the beliefs, goals, and desires of the patient. By asking his doctors to optimize their choice of chemotherapy to maximize his time on the mountains (and even specifying his preference for nausea over headache as a side effect), he bought himself back some control of his narrative. He became more than the next patient in line. That experience was to shape his career.

Originally trained as a social scientist, with an interest in anthropology and ethnography, he was well attuned to humans and how they organize (or don’t organize) themselves. He became familiar with the qualitative research methodologies common in sociology and psychology before entering the world of tech in the early 1990s as the first intern for Microsoft cofounder Paul Allen’s think tank, Interval Research. When he later moved to Intel Corporation, he got to know another computer age pioneer: Andy Grove, Intel’s CEO and a legendary business leader. Grove was, in his later life, diagnosed with prostate cancer and Parkinson’s disease—and devoted a significant portion of his fortune, as well as his influence at Intel, toward improving health care. He and Eric shared the same passion for putting the patient at the center of their own experience: “Own your own health care data, like your life depends on it,” Grove was fond of saying.

As a VP at Intel, Eric was looking for opportunities to bring twenty-first-century Silicon Valley tech to what at times felt like eighteenth-century medicine. Genomics appeared to be a good fit. The computer programs that were used to crunch through genomic data were often written by professors and their students (like me and mine), not by professional software engineers like those at Intel. By enlisting a team of professional software engineers, Intel’s Health and Life Sciences group was able to greatly speed up the open-source software used for interpreting genome sequences. This work exposed him to many start-up companies in the genome sequencing space. In 2011, as his kidneys failed and he tried to avoid dialysis so he could continue his cancer treatment, a contact at one of those companies offered to sequence his tumor. After all, the doctors had never really managed to classify the tumor effectively or to identify the gene mutations fueling its growth. Maybe this company could give it a try?

By this time, genomics had begun to impact the world of cancer in revolutionary ways. Early genetics studies from the 1990s had focused on specific mutations that patients were born with that predisposed them to cancer later in life (mutations in the BRCA1 and BRCA2 genes are good examples). By the early 2000s, however, focus was shifting to new mutations that arose in the cancer cells themselves that turned up the throttle on unrestricted growth. As a result, oncologists were beginning to understand and classify cancer not according to the tissue in which it first occurred (the traditional way of classifying cancer—as “lung” or “breast” cancer) but, rather, according to the unique biology of the tumor. Certain genetic causes of unrestricted tumor growth tend to recur, they found, and these might be good places to focus therapy. Sometimes, the best treatment might not be the one usually used to treat a cancer arising from that organ or tissue but rather one focused on the cell growth pathway that was disturbed.

In Eric’s case, a genetic comparison between his normal cells and his kidney tumor cells revealed cell growth pathway perturbations more common to pancreatic tumors. This was probably why his kidney doctors had been confused for all these years. But that also meant there was a chance he could benefit from chemotherapy normally reserved for pancreatic tumors. The idea of tuning chemotherapy to the underlying genetics of the tumor was new, and he was the first patient his oncologists had worked with where they had access to full genome sequencing both of the patient and the tumor. But Eric was no ordinary patient. They agreed to try the pancreatic cancer chemotherapy. Within a short time, Eric went into full remission. The personalized approach worked beautifully, like no prior treatment had. After a period of being deemed cancer-free, he then proved his original doctors wrong again by becoming a transplant candidate. At forty-four years old, a full twenty-five years after being given nine months to live, he received a new kidney and a new life.

During a 2013 TED Talk about his experience, Eric brought his kidney donor up on stage. The audience stood for an ovation that celebrated the courage it takes to survive decades of treatment for a mystery cancer, and the selfless altruism manifest in donating a kidney to a complete stranger.

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