The Ethical Quandary of Precision Medicine: Who Gets Left Out?

Dec 6, 2016 11:20 AM

“Scientists are not detached observers of nature. They are constantly making decisions about what they will consider significant, and these choices are not merely individual or idiosyncratic, but reflect the society in which scientists live and work.”  

–Barbara Katz Rothman, 2001 

Whether you’re a family doctor weary of one-size-fits-all approaches to treating your patients, a science junkie, or the parent of a child with a mysterious, undiagnosed disease, it’s easy to get excited about the budding promise of precision medicine. 

The implications are dizzying: We’re approaching an era in which we may be able to pinpoint the exact genes causing our newborn’s birth defects, Grandma’s sickle cell anemia and our own cancer. What’s more, we may also gain access to treatments and therapies tailored specifically to each one of us, based on our genomes, lifestyles and environments. 

Full speed ahead, right? 

Not quite, said panelists at the University of Utah’s Frontiers in Precision Medicine conference during a session dedicated to the “ethics of access,” held Thursday at the S.J. Quinney College of Law. 

Because huge health disparities—based on race, ethnicity, sex, disability, socioeconomic status and other factors—persist in the U.S., it’s crucial that precision medicine doesn’t further entrench the problem. 

Most often—said Jessica Roberts, J.D., of the University of Houston Law Center—when we consider health disparities across different groups, we focus on “downstream” access issues, such as prohibitive costs, geographic location and access to technology. But, Roberts said, it’s crucial that we pay attention to “upstream” barriers too, which can be unwittingly built into the system and can limit certain populations from benefiting from precision medicine. 

One key example centers on choosing what to study in the first place. Since many diseases disproportionately impact one race over another, Roberts said it’s vital that we use resources to benefit everyone equally. 

“Now, I don’t mean to say that we should ignore population-specific kinds of conditions, but we want to be aware that if that’s what we’re studying, we then go and study a condition that has an impact in another population,” she said. “So if we’re going to study cystic fibrosis [common in whites], we then might in turn go study sickle cell anemia [common in blacks].” 

Another upstream access issue surrounds who we choose to study. In 2015, blacks made up just 5 percent of participants in U.S. clinical trials even though they account for 12 percent of the population. Hispanics were far less represented; though they comprise 16 percent of the population, they made up just 1 percent of research participants. If they’re not even included in studies, how can they benefit?

“We have to think about what precision medicine is really aiming to do,” said panelist Maya Sabatello, Ph.D., of Columbia University. “Is it only for scientific purposes or is it intended to curtail health disparities? If it’s the latter one, we have to put much more effort into recruiting diversity.” 

Attempting to build trust in science in various communities (Roberts’ suggestion) and making information more accessible by presenting it in plain language and in formats such as Braille (Sabatello’s suggestion), may help. 

In addition to facing different kinds of barriers, Sabatello pointed out that varying populations have their own unique criticisms about what the genetic research required to make precision medicine a reality may mean for them. 

For example, people with disabilities have expressed concern that disability-based selection that comes about from prenatal and preimplantation genetic diagnoses may lead to a low tolerance of human diversity and eradication of differences. The consequences of such selections can be dark: Sabatello noted that the Third Reich once tried to eliminate “bad genes.” 

And, while a whopping 22 percent of adults in the U.S. and 13 percent of children are categorized as disabled, the concept of what makes someone disabled is far from clear-cut. Sabatello provided the deaf community as an example: Many deaf people view their deafness as something to be proud of and cherished rather than stamped out. 

“These are issues we have to think about, and we have to think about them early on,” Sabatello said. “The more we wait and run with precision medicine without those considerations, the harder it will be to incorporate those groups later on.”

By: Natalie Dicou

Natalie Dicou is a Communications Specialist for University of Utah Health Sciences.