ZIP code vs. genetic code
Precision medicine advances amid public health concerns
PRECISION MEDICINE is often touted as the next frontier of healthcare. In 2015, then-President Barack Obama called it “one of the greatest opportunities for new medical breakthroughs that we have ever seen,” as he geared up to announce the launch of the White House’s Precision Medicine Initiative, which lives on. The initiative is underpinned by some of healthcare’s more exciting innovations, like technology that performs rigorous analysis of mountains of patient data and the opportunity to glean insights from genetic code.
But a contingent of public health experts is worried that a focus on the individual—and on genetics—overlooks the more rudimentary building blocks that underpin human health.
“The science is exciting, the research is exciting,” said Ronald Bayer, a professor of socio-medical sciences at Columbia University’s Mailman School of Public Health in New York City. In part responding to Obama’s precision medicine push, he co-authored a 2015 perspective in the New England Journal of Medicine calling precision medicine “a distraction from the goal of producing a healthier population.”
For Bayer, precision medicine’s promise to peak into genetics and offer personalized treatments diverts attention from more foundational health concerns that could benefit far more people. “It’s very boring to say: ‘We have to take care of poverty,’ ” Bayer said.
In the past 20 years, the scientific agenda has gone “all in” on precision medicine, said Dr. Sandro Galea, dean of the Boston University School of Public Health and co-author on the perspective with Bayer—possibly “at the expense of much else that we could be doing,” he said.
That so-called all-in approach includes the All of Us Research Program, a project Obama hinted at in his 2015 speech.
All of Us, which is housed in the National Institutes of Health, launched in May of last year.
It fulfills a mandate of the 21st Century Cures Act, a landmark piece of legislation signed into law during the final month of the Obama administration in 2016 (See related story, p. 34).
The Cures Act allocated nearly $1.5 billion over 10 years for a research project to collect information, including genomic data, “voluntarily provided by a diverse cohort of individuals that can be used to better understand health and disease.” That’s supplemented with additional funding from Congress, which appropriated $190 million for both fiscal 2018 and 2017 for the project on top of the funding outlined in the Cures Act.
That’s not chump change, particularly as HHS as a whole has faced funding cuts.
“There’s a real concern that (precision medicine) is a distraction from more fundamental approaches that we can take, and that we know will generate population health,” Galea said.
People and populations
Researchers like Galea and Bayer don’t dispute that precision medicine’s potential to advance clinical care is real. But they see an inherent tension between a focus on individual treatment and risk management that may only help a limited number of patients, and public health’s desire to take more broad preventive steps, often by targeting social—rather than
“There’s a real concern that (precision medicine) is a distraction from more fundamental approaches that we can take, and that we know will generate population health.”
Dr. Sandro Galea, dean of the Boston University School of Public Health
Today, “we just take from the trial, or the study, and we treat all people the same.”
Dr. Eric Topol, director of the Scripps Research Translational Institute
clinical—concerns at the population level.
There are stark racial and socio-economic health disparities throughout the U.S., with racial disparities for mortality actually widening for some groups in recent years. By some estimates, low socio-economic status is linked with a 2.1year reduction in life expectancy for people ages 40 to 85.
Findings like the above contribute to the oft-cited public health refrain that ZIP code, not genetic code, tends to matter more for health outcomes.
“The reasons that the lives of Americans look poor compared to other advanced industrial nations, why we have gross disparities in the health and longevity of people … is because of social inequalities,” Bayer said. And closing those gaps will likely require investments in public health—addressing factors like food and housing insecurity—rather than advancements in clinical interventions.
The concern is that precision medicine is taking up a disproportionate piece of the pies—one being health funding and the other public attention. Galea believes that needs to be recalibrated to address disparities and improve the health of the American population at large. “At a fundamental level, yes, we should do both,” Galea said of investments in precision medicine and population health. “I have no difficulty with that. But my point on that is: Well, we haven’t been doing both.”
Galea cited an analysis he conducted on research papers focused on population health, compared to papers focused on personalized, individual or precision medicine, published over the past 15 years.
While the two approaches each made up around 0.05% of total papers published on PubMed—a database of life sciences and biomedical publications—in 2009, precision medicine has since shot up to nearly 0.3%, while population health remains at less than 0.1% of total research.
That analysis hasn’t been published, but points at what Galea sees as precision medicine being a “distraction from doing other work.”
A focus on precision treatments could divert attention from proactive population-level interventions that tackle root causes of many conditions. As an example, Bayer pointed to research that used genetics to create personalized nicotine patches for smoking cessation; he thinks that’s misplaced attention that could be better spent on broader policy and education efforts targeting smoking prevention.
Fascination with precision and genetically driven treatment “diverts our attention to this micro level, when the issue really is a macro factor,” he said.
Finding a balance
While policy and public health approaches might make most sense for some health concerns, many need both population-level approaches—like improvements in access to care and addressing social determinants—as well as individual interventions that target specific medical issues.
By and large, there’s not enough individualization in medicine today, said Dr. Eric Topol, director of the Scripps Research Translational Institute, which researches how to improve patient health by bringing together data like genomics and digital sensors. Today, “we just take from the trial, or the study, and we treat all people the same,” Topol said.
By getting more granular patient data, Topol believes providers could not only better manage diseases, but also work with patients at risk to prevent them from developing certain conditions. But “it’s still largely a research narrative,” Topol said of what he calls individualized medicine. That’s what researchers like Topol are working on now. “You need proof that you’re changing the outcomes for people, and that takes time,” he said.
Dr. Muin Khoury, director of the Centers for Disease Control and Prevention’s office of genomics and precision public health, believes precision medicine advancements will actually lead to improvements in population health; he doesn’t see them as contending with one another. He founded the office of genomics and precision public health in 1997 based on that vision, with the goal of applying principles from precision medicine to public health and disease prevention.
Although tailoring care and treatment based on genetics is a part of precision medicine, he pushed back on the idea that it’s the main component.
“Part of the reason why precision medicine was launched was in a large
part due to genomics,” Khoury said. But while genomics might have launched the field—and might continue to be one of the most eye-catching components—today precision medicine is more holistic than that, also encompassing traditional health data and social factors, he said.
More precise data analysis, according to Khoury, could help target resources to at-risk patients and improve the ability to track diseases in particular populations, leading to improvements not just in individual, but also in population-level, health. “We’re going to use all the information, including genomics, to improve the health of the population,” he said.
The CDC’s office of genomics and precision public health was allocated roughly $1.14 million in funding in fiscal 2019.
While a debate between precision medicine and population health may be taking place in the wider health space, some say that doesn’t change a health system’s role in the health ecosystem.
It’s part of a health system’s responsibility to adopt new treatments as evidence mounts, said Dr. Kaveh Safavi, senior managing director for Accenture’s global healthcare business. And as evidence emerges about personalized and genetically driven treatments, these will become part of the standard of care.
“It’s not something that hospitals get to choose to participate in or not,” Safavi said of precision medicine. “It’s ultimately an evolution of science.”
Medicine has always aimed to be precise, said Sanjay Shukla, director of the Marshfield Clinic Research Institute’s center for precision medicine research. Shukla’s work leading the center includes bringing genomics research projects into patient care at the Marshfield (Wis.) Clinic, such as with clinical decision-support alerts that flag when a patient’s genetics might respond better to one drug over another.
“When it comes to patient care, it’s one patient at a time,” Shukla said. “It’s just now, with the help of genomics and the help of modern technology, it’s making it more efficient.”
Use cases for precision medicine are emerging, particularly for cancer and pharmaco-genomics. But there’s also “a lot of hype around genomics and precision medicine,” Khoury acknowledged, since much of the research coming out today is still being debated. Like with all aspects of clinical care, he said precision medicine “has to be driven by the evidence that supports it.”
Hospitals tentative
Health systems seem to be taking a wait-and-see approach, with the majority of health system leaders expressing an interest in precision medicine, even if they haven’t fully integrated it into their care practices.
Most health systems have plans to expand their current precision medicine efforts or launch an initial program, according to a recent survey of about 50 health system leaders conducted by KLAS Research and the Center for Connected Medicine, a center jointly operated by GE Healthcare, Nokia and UPMC.
However, based on health systems’ responses, KLAS Research and the Center for Connected Medicine categorized just 12% of their precision medicine programs as mature. In fact, a plurality of health systems—38%—were designated as having low maturity in their precision medicine programs. That’s not surprising, as much of precision medicine is still in a research phase.
Whether health systems decide to participate in research related to precision medicine is up to them, as a strategic choice, Safavi said. But as medical findings related to new, safe and effective precision medicine treatments continue to solidify, integrating those discoveries is necessary.
“There’s really no business case for care that doesn’t have biological precision, when we know that it matters,” Safavi said. “That becomes a basic standard of care, and a basic quality issue.”
Bayer acknowledged that, once a patient is in the hospital, the best care and treatment should be available—which might be precision medicine. “Of course that’s what we want for people,” he said. But he also called on health system leaders to work in communities to confront disparities that “are making people vulnerable to illness,” as well as to encourage such work.
Health system leaders “should say, ‘We know we have an obligation to treat people. But we believe that the society has an obligation to prevent them from getting sick,’ ” Bayer said. ●