Could Rush to Genomics Damage Public Health?

Marcia Frellick

September 11, 2018

The race toward "precision public health" (PPH) may jeopardize public health's core mission of enhancing population health, experts argue in a perspective article published online September 5 in the New England Journal of Medicine.

PPH, which marries the fields of public health and precision medicine, can be more or less narrowly focused on genomics, write Merlin Chowkwanyun, PhD, MPH, from the Center for the History and Ethics of Public Health with the Department of Sociomedical Sciences at Columbia University in New York City, and colleagues.

The narrower approach, which appears to have the most traction at the moment according to Chowkwanyun and colleagues, is exemplified by the National Institutes of Health's All of Us research project. The project, launched in May, aims to collect genetic, demographic, and behavioral health data from 1 million volunteers in the United States. It comes with a price tag of $1.45 billion.  

But Chowkwanyun and colleagues caution that a full-scale turn toward genomics is much more than a semantic change. "Precision medicine starts with the individual. Insofar as it considers groups that may be at increased risk for disease, vulnerability is conceptualized biologically, and particularly genomically. Improved population health follows from improved health of multiple individuals. In contrast, public health begins with populations. Increased vulnerability is framed as the consequence of structural factors, including social class, ethnic background, gender and sexual identity, and physical environment, among others."

The "tension" between individual- and population-based approaches is not new to public health, they note, but moving too far in one direction has the potential to exaggerate already existing health inequities in the United States.  "Such a conceptualization of PPH could become a quixotic search for magic bullets that undermines belief in broader social determinants as foundational," they write.

Arthur Caplan, PhD, director of the Division of Medical Ethics at New York University's Langone Medical Center, New York City, told Medscape Medical News that he agrees with the authors in their caution and says there is a great temptation to funnel funding to precision medicine and miss addressing social determinants that shape gene expression.

"That is a real problem and it's what I call genetic reductionism," he said, "Reducing everything to its genetic cause and chasing that, as opposed to saying, for example, the way to combat obesity isn't necessarily to find the right marker for metabolism; it may be to put a tax on sugary beverages or something else," he said.

"We're so obsessed — whether it's [DNA testing company] 23andMe or [National Institutes of Health] grants or industry hunting for gene editing interventions — that sometimes we're ignoring obvious public health routes to taking on problems," he said.

Caplan used smoking reduction as an example. "It wasn't genetics," he said. Rather, raising the price of cigarettes, adding warnings to the labels, and limiting places people could smoke were the major drivers of smoking reduction and in the concomitant improvements in population health.

Moreover, even if people know the root causes of disorders, that won't help with getting better at behavior changes, he continued. For example, knowing who's at highest risk for alcoholism or drug addiction doesn't help figure out how to guard against abuse.

Caplan also worries about the shifting of blame to the individual rather than external environments.

"It has a danger of a blame-the-victim problem" that labels a person as having defective genes. Instead of seeing asthma as a problem associated with air pollution or other external factors, people may start to see it as a problem of people having " bad genes," he said. "It puts the locus of the problem in the person."

Compounding the issue is the enticement of monetary gain. For large pharmaceutical companies, the money is in precision medicine and finding new drugs and therapies that target illness individually and efficiently, he said.

Caplan and the authors note that the most successful approaches will need to use personal data but also look beyond an individual, genetically based approach to health.

"We need to be thinking hard about what's the best way to go at large-scale, chronic illness in terms of prevention and intervention. Is it going to be precision medicine or is it going to be environmental and behavioral change? I think you can make the case that it's got to be both," Caplan said.

The authors also say a combination approach is critical.

"If the PPH concept aids integration of technological developments into work that responds to social concerns and helps produce demonstrable results, it may be a welcome development," they write.

For his part, Eric Dishman, director of the All of Us research project,  said in a statement to Medscape Medical News that the promise of All of Us goes far beyond genetic traits and reaches groups that have traditionally been bypassed in research.

"By accounting for variations, not just in genetic traits, but also lifestyle and environment, the All of Us research program seeks to enable research to understand how the convergence of these factors can inform better prevention and treatment options. In particular, All of Us is committed to including people who have been historically underrepresented in biomedical research. This is a unique opportunity to impact the health of the nation in a way that's not been possible before," he said.

Chowkwanyun reports receiving a grant from Amazon outside of the current work; the other coauthors have disclosed no relevant financial relationships. Caplan has served as a director, officer, partner, employee, advisor, consultant, or trustee for Johnson & Johnson's Panel for Compassionate Drug Use (unpaid position), and he currently serves as a contributing author and adviser for Medscape.

N Engl J Med. Published online September 5, 2018. Full text

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