Perspectives
Eric Topol, Professor of Genomics and Director of the Scripps Translational Science Unit in La Jolla, San Diego, California, seems to have the perfect job. He combines one day a week in the clinic, imparting 30 years of knowledge as a leading cardiologist, with his real passion—research in what he sees as the greatest revolution medicine has ever seen. By this he means smart medicine, the era of big data, bioinformatics, and consumer genomics, enthusiastically articulated in his 2015 book The Patient Will See You Now. A history of poor health in Topol’s family shaped his career from an early age. Brought up in New York City, as a child he witnessed his father’s severe diabetes. “I was always curious to understand why poor health seemed to run in my family, so a career in genetics seemed the right direction for me”, he says. A part-time job cleaning respirator equipment in an intensive care unit while a student at the University of Virginia proved to be transformative. “I saw really sick patients, sometimes coming back to life from the brink of death, and I knew I had to get involved directly in medicine”, he recalls. After studying medicine at the University of Rochester, New York, and following an internship at the University of California, San Francisco, he met Kanu Chatterjee, who opened Topol’s eyes to the world of cardiology. “Cardiology in the early 1980s was a very exciting specialty to be in, with the emergence of clotbusting therapy and angioplasty”, Topol says. 3 years spent as a fellow in cardiovascular medicine at Johns Hopkins Hospital, Baltimore, was an exciting time for Topol: he was the first clinician to give tissue plasminogen activator (tPA) to a patient after heart attack and this period was the start of his prolific authorship in cardiology research. Topol’s first faculty job took him to the University of Michigan at Ann Arbor in 1985. There, he combined his development in cardiology research with state-of-the-art clinical work in angioplasty—patients were often flown in by helicopter to his treatment centre. “These were the heady early days of reperfusion therapy”, he recalls, “and in tPA we had a new molecule that offered a novel approach for managing heart attack. Our work was pioneering, and we felt that we were pushing new frontiers in medicine.” It was after he moved to the Cleveland Clinic, in 1991, as Professor of Medicine and Head of Cardiology that Topol realised the potential of genetics to shape his approach to medicine. “What cardiology had told us up until then was that recent advances could help us make a small difference, in the way we were managing heart attack”, he says. “To me there was a much greater question that we were barely addressing at that time: how to prevent heart attack in the first place, from a biological perspective, which meant a new approach to cardiology through the lens of genetics”, he www.thelancet.com Vol 387 March 26, 2016
says. At Cleveland Clinic, Topol set up the first cardiovascular disease gene bank, based on the acquisition of DNA and electronic personal records for 10 000 consecutive patients treated at the cardiology clinic. This led to the discovery of multiple gene variants underpinning susceptibility to heart attack. Also while at Cleveland, Topol somehow found time to create a new medical school, the Lerner Medical College, which remains one of his proudest career achievements. In 2000, Topol was asked by a colleague to review some data that implicated the COX-2 inhibitor rofecoxib (Vioxx) with heart attack. “I really stumbled across the Vioxx problem, data safety not really being my area”, he recalls. The Vioxx story has been widely documented in both the medical literature and mainstream media. “There was much public furore after the withdrawal of Vioxx in 2004”, Topol recalls. “In the aftermath of it all, I was informed that the position of Provost at Lerner College of Medicine was to be eliminated. I knew then that it was time to move on”, he says. Moving on came in the shape of an offer from Scripps to head up a new genomics programme. And so for the past 9 years, Topol has been at the forefront of the digital revolution which is starting to transform medicine. “We’re already entering a phase where patients will start to take control of their data, whereby the conventional paternalistic doctor–patient relationship will change forever”, he says. Topol sees the sequencing of the human genome, together with the increasing availability of genomic data to potentially shape treatment and ultimately prevent disease, as an enormous opportunity. “The challenge now is in developing the algorithms that can be applied to interpret the big data of each individual: the human genome, along with biosensors and the multiple layers of ‘omic’ information that comprise highdefinition human beings. This is the key area of research that my team at Scripps is working on right now”, he says. Topol, a passionate advocate of smartphone technology in the clinical setting, favours a handheld ultrasound device to the stethoscope—as proposed in this week’s The Art of Medicine. His translational research at Scripps is undoubtedly leading the way in the smart medicine revolution. But when does he think that the brave new world of individualised medicine and consumer genomics will become mainstream? “That’s a tricky one”, Topol concedes, “I’d like to say in around 10 years from now, but I am notoriously impatient, so maybe two decades from now is more realistic. I just hope I am still alive and well when we no longer talk of personalised medicine, or smart medicine. It will just be called ‘medicine’. Won’t that be fantastic?”
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Profile Eric Topol: innovator in cardiology and digital medicine
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