Estimated read time: 7-8 minutes
SALT LAKE CITY — Major scientific breakthroughs like mapping the human genome have given researchers the ability to isolate specific genetic markers that can increase one's risk for developing certain diseases.
The technology has been followed by an explosion of interest and hype about so-called precision medicine, where treatments can be developed specifically to respond to a person's genetic makeup and — in theory — provide more effective results when treating diseases like cancers, Alzheimer's disease and Parkinson's disease, among others.
But much of that hype doesn't factor in many of the economic and scientific hurdles that exist, and it also ignores environmental factors that are known to contribute to those diseases, according to University of Utah professor James Tabery.
Tabery teaches at the U.'s Department of Philosophy and is a member of the Center for Health Ethics, Arts and Humanities at the university. He's also the author of the recent book "Tyranny of the Gene: Personalized Medicine and Its Threat to Public Health," in which he charts the enormous investment in gene-based research in recent decades, to the detriment of pursuing more effective health outcomes.
The subject is a personal one for Tabery. The book opens with the story of his father's diagnosis of lung cancer in 2011, and the subsequent months of treatment using a drug called erlotinib, for which his father's cancer was a genetic match.
People are so desperate, and I think that's one of the real selling points of this whole approach to medicine. Everybody knows somebody who'd died of cancer, and to be able to say, 'This is the way to the cure,' or, 'This is a kind of magic bullet,' it's hard not to get excited about that. I think that's one of the things that makes it so hard to combat the hype about this is because people want it to be true.
– James Tabery, University of Utah professor
The treatment initially helped shrink the tumors, giving his father a chance to leave the hospital and continue doing the things he loved, but the cancer returned the next year, and he passed away a little over a year after the original diagnosis.
While it's impossible to quantify how much extra time erlotinib afforded his father, who lived 13 months after receiving an eight-month prognosis, the drug likely helped extend his life.
"I and the rest of my family were really grateful for that," Tabery told KSL.com earlier this month.
But as Tabery learned more about precision medicine treatments, he learned that his father's experience wasn't indicative of all patients, some of whom burned through their personal wealth on costly drugs that did little to improve their health outcomes in the long term.
What is precision medicine?
Precision medicine, also known as personalized medicine, uses "molecular-genetic information about patients to deliver the right treatment, to the right patient, at the right time," Tabery wrote in a recent New York Times piece adapted from his book. Whereas traditional drugs such as ibuprofen or Benadryl are developed to be effective for the widest possible audience, precision medicines segment patients based on genetic markers, promising niche treatments intended to be most effective for a small subset of the population.
Genetic-based drugs have changed the game when it comes to a handful of rare diseases. "Tyranny of the Gene" describes how the approval of imatinib in 2001 turned chronic myelogenous leukemia, a rare blood cancer, from a disease with a life expectancy of less than five years to a chronic condition that could be managed similarly to Type 2 diabetes.
While precision medicine has its success stories, Tabery argues that many diseases are too complex to isolate a handful of genes that can be targeted, meaning most treatments temporarily relieve patients, but at great financial cost.
Unlike "blockbuster" drugs like ibuprofen, precision medicines only work for a small percentage of patients, which drives up the cost to each because of the low demand.
Erlotinib, which Tabery's father took, is on the cheap end of the spectrum at $5,000 a month, but some can cost as much as $50,000, he said. Tabery said his family was lucky to have good health insurance, but families who don't — or who lose health insurance because the provider is sick and can no longer work — are often on the hook and can quickly wipe out any personal wealth trying to keep a loved one alive.
"People are so desperate, and I think that's one of the real selling points of this whole approach to medicine," he said. "Everybody knows somebody who'd died of cancer, and to be able to say, 'This is the way to the cure,' or, 'This is a kind of magic bullet,' it's hard not to get excited about that. I think that's one of the things that makes it so hard to combat the hype about this is because people want it to be true."
Environmental factors and disease
While genetics can play a role in which diseases a person is more at risk of developing, environmental factors like pollution can also increase risk in ways that genomics can't fully account for. That's evident in Salt Lake City, Tabery said, where residents on the west side have higher risk levels for cancer and lower life expectancies compared to residents on the east side.
The same is true in cities across the U.S., where minority and low-income populations face increased risk of disease.
You're always pulled toward treatments and cures because you've got the patients in front of you who are sick and need help. Whereas with prevention, there's this way in which you're kind of dealing with a more abstract idea of a future generation that isn't actually sitting in your clinic yet.
– James Tabery, University of Utah professor
"Tyranny of the Gene" tracks the yearslong effort of the National Children's Study at the National Institutes of Health, which was designed to collect data on environments and child development. After spending over $1 billion on the project, it was terminated in 2014, in part to direct funds to study genetics in response to political pressure focused on the emerging technology.
Rather than spending money on niche precision drugs, Tabery argues that a full environmental study and subsequent mitigation of risks would be the most effective path forward, by reducing the number of people who develop diseases in the first place.
He said that most of the complex conditions that take the biggest toll on the health of a society, such as diabetes, cardiovascular disease and most cancers, are believed to be caused primarily by environmental factors.
Still, he acknowledged that health care professionals and researchers are often tasked with balancing the needs for prevention with the needs of patients who are already sick.
"This is a common phenomenon in medicine, when you're thinking, 'Do we invest in treatments and cures, or do we invest in prevention?'" he said. "You're always pulled toward treatments and cures because you've got the patients in front of you who are sick and need help. Whereas with prevention, there's this way in which you're kind of dealing with a more abstract idea of a future generation that isn't actually sitting in your clinic yet."
On top of that, he said there isn't the same financial incentive for companies to clean up the environment as there is for developing a new pricey drug — in fact, many companies are incentivized not to reduce their pollutants because that could cut into their profits.
'A biological reality'
Tabery cautions readers from drawing the conclusion that the problems described in the book can be resolved by getting rid of bad actors who are ripping patients off.
"There's this sense that there are bad actors somewhere in the system who are just taking advantage of everyone, and if we could just root out that evil, this problem would go away," he said. "I want to make clear that getting rid of the bad actors is not going to make this problem go away. This is a biological reality, it's not an ethical reality. ... I don't think people are really thinking through the actual economic reality and challenge as it exists."
He also doesn't want to give the impression that precision medicine is "complete nonsense." Instead, he's concerned that the hype around the true success stories will overshadow the areas where treatments are not as effective.
And by branding genetic-based treatments as "personalized" or "precision," Tabery said, patients may perceive traditional medical care as somehow impersonal or imprecise, when, in fact, medical practitioners have catered treatments to individual patients for millennia.
He writes: "A patient newly diagnosed with cancer who made his way to this conceptual landscape was led to believe that genomic medicine personalized treatment (it did not), and it alone treated patients as individuals (that's false), and it replaced ambiguity and uncertainty with precision and clarity (not true), and it alone got at the causes of disease (also not true).
"Precision medicine was introduced as a well-intentioned effort to clear up misperceptions surrounding genetics, but the result was the exact opposite. That's a dangerous irony for desperate patients and families making their way to a science surrounded by talk of biomedical breakthroughs and miraculous cures."
"Tyranny of the Gene: Personalized Medicine and Its Threat to Public Health" was published by Knopf on Aug. 15, and is available in hardcover, eBook and audio formats.
