There’s an idea in linguistics known as the Whorfian hypothesis. It proposes that language is inexorably linked with how we perceive and think about the world. The classic argument is this: an Inuit person, possessing different names for snow, has the ability to think about, and even see, subtle differences in snow that speakers of some other languages do not.
Could the same apply to biomedicine?
Last week, a panel convened by the US National Institutes of Health (NIH) released a series of recommendations about how best to study and diagnose a common hormonal disorder in women known as polycystic ovary syndrome (PCOS). At the top of their list: a call for a name change.
It might seem counterintuitive that a name could be critical to scientific investigation. After all, a disease such as PCOS, which affects one in ten women of reproductive age and is a major cause of infertility, is still just that—no more or less common, no more or less severe, regardless of the name. Still, the semantics of a particular moniker can have potential repercussions, from levels of research funding to how patients find the right doctor.
PCOS affects an estimated five million women in the US and encompasses a range of symptoms, including high levels of the male hormone androgen, insulin-resistance, an increased risk of type 2 diabetes, abnormal hair growth and growths on the ovaries. However, little is known about the underlying causal mechanisms of the disease. As a result, there are currently no cures, only treatments for symptoms. Combined with the fact that many women express only some of these symptoms, the diagnostic criteria for PCOS are still under debate.
A distraction and an impediment
Late last year, the NIH called for an independent panel—four experts not involved in PCOS research—to assess this issue. Over the course of the December 2012 workshop, the panelists soon came to a realization: “We believe the name ‘PCOS’ is a distraction and an impediment to progress. It causes confusion and is a barrier to effective education of clinicians and communication with the public and research funders,” panel member Robert Rizza, executive dean for research at the Mayo Clinic in Rochester, Minnesota, said in a teleconference last week unveiling the committee’s findings.
After reviewing the current state of research and different diagnosing standards, Rizza and his colleagues concluded that the presence of “polycystic ovary”—which is actually a misnomer, as the numerous ‘cysts’ on the ovary are really immature eggs known as follicles—is not sufficient to diagnose PCOS. Some women with excess follicular growth show no signs of having the disease; others show some combination of symptoms but have no ovarian abnormalities.
In their report, the panelists agreed with the relatively-contentious ‘Rotterdam criteria‘, which require patients to have two out of three major symptoms—increased androgen levels, irregular periods, and “polycystic ovary”—for a diagnosis. Therefore, they wrote, “It is time to expeditiously assign a name that reflects the complex metabolic, hypothalamic, pituitary, ovarian and adrenal interactions that characterize the syndrome,” and not just focus on one particular symptom. But being outsiders to PCOS research, they declined to propose a new name.
“Our feeling was that this was the right time to rebrand,” panelist Timothy Johnson, chair of the department of obstetrics and gynecology at the University of Michigan Medical School in Ann Arbor, told Nature Medicine. “The new name would really make people think about the disease in a broader way, do research in a broader way and get a broader range of funding.”
What’s in a name?
Efforts to retool inaccurate or imprecise names are not a rare occurrence in research. Juvenile diabetes, a disease in which pancreatic islet cells stop producing insulin, successfully underwent a transformation into type 1 diabetes after researchers realized adults and children were both susceptible. Yet, much of the time, once a name sticks it can be hard to dislodge. Attempts at changing ‘restless leg syndrome’ to Willis-Ekbom disease, say, or ‘chronic fatigue syndrome’ to myalgic encephalomyelitis or a host of other names have yet to see any meaningful momentum, even though many patient advocates and researchers view the existing names as inaccurate and often trivializing of their inherent suffering. Having restless legs doesn’t sound so bad, right? But who wants Willis-Ekborn?
Beyond affecting public perception, the rebranding of a disease like PCOS could boost clinicians’ awareness, too. “I think having the name ‘ovary’ has led [doctors] to think that it’s just a reproductive disorder,” says Andrea Dunaif, an endocrinologist at Northwestern University’s Feinberg School of Medicine in Chicago, who spoke at the workshop. When reproductive disorders are diagnosed, patients are usually referred to OB/GYNs who treat infertility and ovarian issues. But these specialists usually have little expertise in the metabolic and endocrinological aspects of PCOS—which often cause pre-diabetes and increase the risk for full-blown type 2 diabetes down the line. “Right now these women are terribly underserved,” Dunaif says.
A better name could also open new funding opportunities. Historically, PCOS research has for the most part been funded by the NIH’s National Institute of Child Health and Human Development, which handles most women’s health studies. “Now,” notes Dunaif, “in an era of shrinking or stagnant funding, [the name] makes it easy for [other] institutes to say ‘that’s not my area.’” A more accurate name could generate “broader recognition among the funding bodies,” she says, and help make sub-characteristics of PCOS more attractive research targets at institutes such as the National Institute for Diabetes and Digestive and Kidney Diseases or the National Heart, Lung and Blood Institute.
But not all researchers agree. “There should be confusion, because we don’t understand [PCOS],” says Richard Legro, an OB/GYN at the Pennsylvania State University College of Medicine in Hershey and president of the Androgen Excess and PCOS Society. “If we understood it then we would have a better name.” For a disorder with unknown underlying causes and even controversy over what combination of symptoms are necessary for a diagnosis, Legro believes that a name change is a distraction. “I think we could better spend our time trying to understand the disorder and develop new treatments for it—and not lobby for a name change,” he says.
The issue of a PCOS name change remains controversial among researchers in the field. Names such as “metabolic reproductive syndrome” and “syndrome XX” have been thrown around, but as of yet, no major organization or group has proposed or endorsed anything. Still, while the future of the name ‘polycystic ovary syndrome’ remains unclear, the context of the debate is not. “The ultimate purpose of this is to have the women at risk for [PCOS] to be properly cared for, and that’s not happening right now,” says Dunaif.