"Moonshot Medicine": Putative Precision vs. Messy Genomes

Biopolitical Times
A colorful illustration of a scalpel

Like so many medical terms, “precision medicine” is a combination of both wishful thinking and obfuscation.  In this case, it also carries a somewhat unsettling suggestion: if medicine has not up until now been precise, then what has it been? 

Precision medicine started being touted in the specialized journals in the late aughts as part of a “new era” being ushered in by coordinated and integrated care, fiscal transparency, and patient-centered practice.  It was one of a suite of approaches that promised to bring costs down while improving outcomes.   The idea was that by looking at drugs and other therapies according to how they succeeded (or didn’t) in people sharing particular gene variations and similar physical traits, physicians could make more intelligent choices patient-by-patient, selecting the treatment with a greater chance of working. 

Big Pharma saw promise in the approach and made strategic partnerships (Pfizer and Medco Health Solutions in 2011, for example, and Novartis and Genoptix that same year); startups and researchers rushed to secure patents; while medical groups such as the American Society of Clinical Oncology devoted sessions at their annual conferences to precision medicine’s potential benefits now that speedier gene sequencing was bringing costs down sufficiently to make it possible to contemplate tailor-making cancer drugs.

At the same time, some in the burgeoning field saw major structural hurdles.  For example, most work on biomarkers—the substances or physical signs that a disease is present or a drug is working—is done in university and government research labs, and it takes time for any given biomarker to be proven accurate, as well as to be adopted by physicians in the clinic.  Finding biomarkers that not only show whether a drug is present but whether it is affecting the target cells to reduce disease presented a further challenge. 

Soon enough, though, proponents were touting precision medicine in scientific meetings as “revolutionizing oncology,” and medical programs launched courses in whole genome sequencing.  Dean Dennis Charney of Mt. Sinai School of Medicine gave the rationale for their decision to start offering an elective course “Practical Analysis of Your Personal Genome” in 2012, "For precision medicine to become a routine in the medical clinic, we need to train the next great generation of physicians to harness sequencing-driven medical genetics."

Genome sequencing, though, wasn’t enough, argued some.  That same year, Peter Taylor, director of the Victorian Life Sciences Computational Institute at the University of Melbourne, wrote in The Australian,

Medicine today is as much about statistical literacy as it is about bedside manner or learning about anatomy. As the world heads towards the field of personalised, or, as I prefer to put it, precision, medicine where treatments are designed for individual patients based on their genetics, cancer type and family history, the next generation of doctors need to know about statistics, errors and measurements so they can understand how the almost daily announcements of breakthroughs, recalls of medicines and clinical trial results impact on their patients.

In addition to advocating a renaming of the field by replacing the previously used word “personalized” with “precision,” and championing the value of statistics for future physicians, Taylor delivered a zinging backhand indictment of the med school status quo: “These tools they will be using will be produced by mathematicians and bio-statisticians, not just the anatomists of old.”

Precision medicine made the leap out of medical circles and into the mainstream around this time.  Google Trends shows the term emerging onto the interwebs in March 2012 with 11 news headlines and then blipping along at about the same level until February 2015, when it leaps to a new plateau of about 100 in the wake of President Obama’s announcement of a $215 million precision medicine initiative in his State of the Union address. 

Critics offered a raft of objections to the announcement.  Even those in favor of increased use of genetic testing predicted it would be years before there were enough sufficiently trained physicians and genetic counselors to ensure that patients received accurate readings; until then, the complexities of genomics would likely result in an unsettlingly large number of faulty diagnoses.  Others said it would just bring about more problems related to genetic privacy

Writing in The New York Times, Mayo Clinic physician Michael Joyner leveled a much more sweeping critique of the entire precision medicine effort, one that can’t be answered better privacy protections or more doctors with training in genetics.  Joyner argued that Obama's plan, which he dubbed "moonshot medicine" is unlikely to prevent disease and a misdirection of effort. He cites the “unexpected findings” emerging from the Human Genome Project, including the growing scientific consensus that genetic variants don't account for most common complex diseases, and the “missing heritability” problem.  His advice:

We would be better off directing more resources to understanding what it takes to solve messy problems about how humans behave as individuals and in groups. Ultimately, we almost certainly have more control over how much we exercise, eat, drink and smoke than we do over our genomes.

As a colleague said to me recently, precision medicine is also a non-starter when it comes to social justice:  in the U.S., dollars could be better spent on providing primary and preventive care to more people who, even with the Affordable Care Act still cannot access medical treatment on a regular basis. 

But the hype, with its hopeful but unlikely message, is so much easier to sell than the not-terribly encouraging reality. And in research and medical circles, the funding being directed at gene-based health care is a powerful  lubricant of enthusiasm. So the megaphones will likely be blaring the precision medicine tune for some time to come.

Gina Maranto is a fellow at the Center for Genetics and Society. She is Professor and Director of Ecosystem Science and Policy and Coordinator of the Environmental Science and Policy program at the University of Miami's Leonard and Jayne Abess Center. Her articles, opinion pieces, and reviews have appeared in Discover, The Atlantic Monthly, Scientific American, The New York Times, and other publications. She is the author of Quest for Perfection: The Drive to Breed Better Human Beings.

Previously on Biopolitical Times:

Image via Wikimedia, with color added