Being given a disease label doesn’t always encourage healthy behaviours and it can have long-lasting impacts.
When Dr Justin Coleman started out as a GP some 25 years ago, it was common practice to order imaging for patients with lower back pain and talk about radiological findings as if that explained away the cause of their discomfort.
But a lot has changed in the decades since, not least the language doctors use to describe low back pain, the fifth-most-common reason for all physician visits.
While some clinicians still put their faith in imaging to expose the source of low back pain, many doctors are opting to use phrases such as “wear and tear” to describe what are often normal age-related changes, and to avoid unnecessary imaging that doesn’t improve outcomes but adds to healthcare costs.
“After a while, you learn to use different language which prepares the patient for the eventual outcome of the consultation, that being supportive treatment and observation over time,” says Dr Coleman.
Building on those decades of shared clinical experience, a growing body of research exploring disease labelling is also now providing useful insights about the way patients perceive the medical terminology that their doctors use.
From concerns about slow-growing or non-invasive cancers to opting for surgery when shoulder pain is described as a rotator cuff tear, research shows that the medical terms used to diagnose and describe certain health conditions can influence patients’ preferences for and decisions about treatment.
Give people the more medical sounding name, and they’ll often want medical interventions.
And whether a diagnosis is the answer someone has been longing for or something that they never saw coming, it can have a profound impact on a person’s well-being, increasing anxiety in many circumstances, or provide deep relief for others.
But a diagnosis might also be an inconvenient truth shrugged off by some patients as an unchangeable fate – it varies.
“Part of the role of a high-quality GP is to communicate accurately, and in terms the patient can understand, the nature of the condition and the likely outcomes of any given treatment,” says Dr Coleman. “It follows then that the more we learn about the effects of the labels we use, the better.”
“Without anyone questioning them, we make a whole lot of untested assumptions that labelling a disease is intrinsically important and always does good,” he adds.
A sliding scale
The rationale behind applying disease labels or widening diagnostic criteria is an optimistic one. By giving patients a label to describe their experience or to alert them to health risks, a diagnosis is thought to motivate people to change their diet and lifestyle, or seize the opportunity to take preventive measures.
“People have believed that giving patients a medical diagnosis will help them do that,” says Professor Jenny Doust, a practising GP and public health researcher at the University of Queensland. “But in our research, we’ve never found that that’s happened.”
A recent study, by Professor Doust and her colleagues at the University of Sydney, found that labelling people with blood pressure readings of 130-140mm/Hg as having hypertension or “high-normal blood pressure” increased medication use, reduced people’s sense of control and negatively impacted psychological well-being. But the diagnosis did not motivate them to change their diet or increase exercise.
For these people, who are otherwise at low risk of cardiovascular disease, it suggests being labelled with hypertension may cause harms that outweigh the purported benefits, the researchers say.
“It doesn’t motivate them to institute lifestyle changes, but it does seem to drive them to want more medical interventions” and it can result in more anxiety and depression, says Professor Doust.
Dr Coleman, who chaired the RACGP’s Choosing Wisely initiative, says studies like these, exploring the impact of diagnostic labels through hypothetical scenarios, pave the way for doctors to question the adage that finding and labelling a disease is the “holy grail” of managing a condition.
“I think general practice should be, and can be, at the forefront of educating the general public about the value of careful observation rather than immediate intervention when a disease is diagnosed,” says Dr Coleman.
“That involves a number of things: not overselling a treatment before you decide if it’s really needed, and not overselling the severity of a condition if a patient only just crosses the threshold for having that condition.”
He says GPs tend to be on the receiving end of disease labels and diagnostic guidelines that are handed down from specialist groups which, in some cases, have financial ties to pharmaceutical companies with vested interests.
But GPs, faced with the looming threat of overdiagnosis and overtreatment, are becoming more adept at using subtle language in the lead up to making a diagnosis, Dr Coleman says, for patients hovering around a diagnostic threshold or when the diagnosis is uncertain.
“One of the arts of general practice is listening to patients’ concerns and expectations,” he says. “A good communicator does not particularly need to land upon a specific label in order for the [patient] to feel like they’ve been heard.”
Attuned to patients’ needs
A diagnosis of polycystic ovary syndrome (PCOS) can drastically alter a woman’s life.
Irregular periods, weight gain, risk of infertility and diabetes – “Giving anybody the diagnosis that has all of these implications will have an impact on their sense of wellbeing,” says Professor Doust.
But being diagnosed with PCOS can also have unexpected consequences for some women, including unintended pregnancies (due to the misconception that women with PCOS do not need to be as careful with contraception), as Professor Doust and her colleagues at the University of Sydney have found in their work studying the impact of the diagnostic label ascribed to the common hormonal disorder.
Debate has swirled around whether the condition is overdiagnosed, after diagnostic criteria were expanded, or if PCOS still goes unrecognised.
Professor Doust’s concerns centre on women who are diagnosed with mild PCOS, particularly on the basis of ultrasound results, then told they have a lifelong condition prompting them to make life-altering decisions, when they might not have any significant health consequences down the track.
On the other hand, endocrinologist Professor Helena Teede, who developed the latest iteration of international guidelines for diagnosing and managing PCOS, advocates for prompt and accurate diagnosis to facilitate early intervention, based on the lived experience of women with the condition.
In her research, around two-thirds of women report feeling dissatisfied with their oft-delayed diagnosis experience, and low self-esteem and psychological distress are common. For these women, a diagnosis of PCOS can validate and legitimise their symptoms, she says.
However, clinicians have recently expressed uncertainty and complexities around diagnosing PCOS.
In a small study of Australian GPs, gynaecologists and endocrinologists, “most clinicians felt the diagnosis was beneficial for women provided that it was the correct diagnosis and time was taken to assess patient expectations and dispel misconceptions, particularly concerning fertility”, write University of Sydney researcher Tessa Copp and her colleagues.
With the revised guidelines, which were introduced in 2018 and co-designed by women with PCOS and treating doctors, Professor Teede says clinicians can feel more confident and be more accurate when making a diagnosis of PCOS; it also requires less use of invasive ultrasound investigations than before.
Ultrasounds are no longer necessary for diagnosing PCOS in adults if women have both irregular cycles and raised androgens levels. Doctors should also not be using ultrasound for diagnosing PCOS in adolescents as it is inaccurate in this age group.
Instead, young women who have only one of the two required diagnostic features – irregular periods or hyperandrogenism – should be considered “at risk” with follow-up assessments proposed in years to come.
Caring for these young women should then involve conversations with them and their caregivers, if appropriate, about their personal symptoms and concerns. And doing so while being responsive to their needs, whether they have a diagnosis, are only at risk or otherwise, Professor Teede says.
“If women present with symptoms, it’s our responsibility to explain what the options are – for diagnosis and subsequent management – and what that would mean, and to alleviate and manage any distress that may be concerned,” Professor Teede says.
“Then it’s the patient’s decision as to whether or not they want to go on that journey.”
Addressing personal problems
Research from Professor Doust’s colleagues at the University of Sydney shows, however, that the ramifications of receiving a PCOS diagnosis is personal – and can differ between women with mild symptoms compared with those presenting with more severe symptoms of the disease.
In one small study, women with milder PCOS symptoms often reported feeling shocked and overwhelmed by the diagnosis, experiencing long-lasting anxiety about infertility, with few positive effects and altered life plans.
The findings highlight the possible downsides of diagnosis for some women; it’s clearly not a one-size-fits-all approach. Doctors, therefore, need to have transparent conversations with women to help them understand that outcomes do vary among women diagnosed with PCOS, even fertility, says Professor Doust.
“It’s really important that we do the best we can to address the problems that the patient has, but that doesn’t necessarily mean putting them into this one basket that catches everybody,” she says.
“We really need good longitudinal data on what happens to these women over time”, to improve management practices, she adds.
Professor Doust, like Professor Teede, is digging into data from the Australian Longitudinal Study of Women’s Health on women’s health behaviour following a diagnosis of PCOS in her work at the Centre for Longitudinal and Life Course Research. But she says more research on health outcomes is needed.
“The disease label needs to group together people who are going to have a similar prognosis and response to treatment,” she says, so doctors can provide the most appropriate care.
The bottom line, according to Dr Coleman, is that doctors are managing the symptoms and concerns each patient presents with, especially when a diagnosis is uncertain or consequences of the condition can vary.
“A very important skill for doctors is learning to negotiate that grey, foggy area and walk the patient through the fog,” says Dr Coleman about diagnosis, generally.
“Part of that is recognising we have an individual in front of us, with their unique set of issue and conditions and psychology, and no guideline is ever going to cover the needs of every individual.”
Care with low-risk cancer
It’s a similar story for patients faced with a diagnosis of low-risk or slow-growing cancer.
Concerns for overdiagnosis have prompted research exploring the impact that labels given to low-risk cancers, such as ductal carcinoma in-situ (DCIS) and papillary thyroid cancer, can have on patients’ well-being and treatment preferences.
Many of these impalpable cancers are unlikely to cause harm if left untreated, but they are increasingly detected on imaging, sending rates of “cancer” diagnosis skyrocketing and more patients into surgery.
While researchers and clinicians discuss adjusting the cancer-containing names, more people are also contending with what that six-letter word means to them.
Dr Brooke Nickel, a public health researcher at the University of Sydney, is capturing in her research what doctors have witnessed in their own clinics: the impact of a cancer diagnosis.
Her work also shows how the names given to low-risk cancers can influence people’s preference for surgery, in hypothetical scenarios comparing terms such as “pre-invasive breast cancer cells” and “abnormal cells” for DCIS.
In another group of adults without thyroid cancer, Dr Nickel also found fewer people opted for a total thyroidectomy when a hypothetical diagnosis was described as “papillary lesions” or “abnormal cells”, instead of papillary thyroid cancer; their anxiety levels were also lower.
“Clinicians should ensure that the diagnosis is properly explained and the treatment options are well presented to patients to help reduce any unnecessary anxiety and allow for the consideration of less invasive management options”, including active surveillance, Dr Nickel said.
However, treating clinicians ultimately need to know which cancers will go on to cause harm, and which ones won’t, before recommending non-surgical management options.
Endocrine surgeon Professor Jonathan Serpell says clinicians are well aware of the troubling trend of over-diagnosing cancer but they’re not at a point where they can distinguish between one patient diagnosed with a small and seemingly low-risk papillary thyroid cancer, and the next.
Professor Serpell leads the Australian and New Zealand Thyroid Cancer Registry (ANZTCR) at Monash University. The registry is collecting data on patient outcomes, including people with micropapillary thyroid cancers less than a centimetre in size that are often found on incidental imaging.
Most patients with these tiny tumours will essentially be cured of their disease with surgery, but other micropapillary thyroid cancers of a similar or slightly larger size will spread to lymph nodes in the neck and need to be aggressively treated.
“It’s a matter of working out the difference between the two, and clearly there are dramatic differences,” says Professor Serpell.
Details in the data
There is currently only one centre in the world trialling active surveillance as a way to manage micropapillary thyroid cancers, Professor Serpell says.
Led by endocrine surgeon Professor Akiro Miyauchi, the Kuma Hospital, Center for Excellence in Thyroid Care in Kobe, Japan, has reported favourable outcomes, including fewer surgeries, after active surveillance, with patients’ anxiety about their cancer decreasing over time.
However, there are probably geographic differences between cancers in different parts of the world, and many clinicians say that the evidence is not yet strong enough to support this management approach in Australia.
That being said, Professor Serpell says there is a move towards recommending hemi-thyroidectomies for low-risk micropapillary tumours under four centimetres, instead of removing the whole thyroid – the advantage being most patients can avoid taking replacement thyroid medication for the rest of their life.
“But I think we’re a long way off from a position of being able to say: you’ve got small thyroid cancer, don’t worry about it, we don’t need to treat it,” he says. “We just don’t know which patients those are.”
Having a cancer with an excellent prognosis that still carries a risk of metastases is also a difficult concept for some patients to wrap their head around.
“Obviously, these aren’t easy conversations to have,” says Professor Serpell. “The reality is thyroid cancer will spread to lymph nodes in the neck in around 50-75% of cases but provided that’s treated properly, it’s treatable and curable.”
He says it’s a matter of emphasising to patients the importance of close follow-up, with regular blood tests and ultrasounds, while recognising the anxiety felt by patients as they approach their annual review appointment. Micropapillary thyroid cancer can metastasise anywhere from one to 40 years later, a hard thing for patients to reconcile.
“This is why cancer is such an important diagnosis, because it does really impact on a patient for the rest of their life,” says Professor Serpell.
“I think we do often underestimate the impact of it,” he continued. “We say thyroid cancer is a good cancer to have. We tend to tell patients, don’t worry, it’s treatable and curable.
“But for the patient, they still hear that they’ve got thyroid cancer.”
