Every year the World Health Organization (WHO) shines a light on the quality and availability of healthcare worldwide. This year focuses on access to healthcare for everyone, a multi-layered problem for which there is no one solution. Half the world’s population doesn’t have access to the essentials and for some 100 million people, their healthcare costs alone push them into extreme poverty.
Access to effective healthcare can also be blocked by the ability to find a diagnosis. For the vast majority of diseases and conditions, prompt and accurate diagnosis not only increases the chances of the patient’s survival and recovery, it reduces the cost of therapy. An emphasis on good diagnosis also contributes to medical knowledge and feeds valuable data into systems that can prevent epidemics and improve healthcare worldwide.
The barriers to proper diagnosis are many, ranging from a lack of doctors and equipment, inadequate training of medical personnel, distance and poor transportation. Societal changes can also be a factor. The rise of non-communicable diseases (NCDs), such as diabetes, poses new healthcare challenges, and late diagnosis of NCDs vastly increases the cost of treatment.
Inequality in available and affordable care is not just a problem between rich countries and poor, but also between urban and rural populations and between the sexes. The patient can also be a barrier. The stigma of mental illness or obesity can be a deterrent to seeking medical help—and can also make examination of the patient more complicated.
Only a fraction of people with mental health problems actually seek a diagnosis, largely because of societal attitudes, studies show. And people with mental illnesses or disabilities seeking a diagnosis for a physical problem can have trouble communicating their medical histories.
For obese patients, body image can be a barrier to actively looking for a diagnosis, and standard equipment may not accommodate the largest patients. “Unfortunately, many of our imaging machines are not designed to handle people who are morbidly obese,” Dr. Bryan C. Bordeaux at Johns Hopkins University School of Medicine, told the journal HemOnc Today. “Sometimes the tables cannot safely support the patient’s weight, they might be too narrow to prevent them from falling, or the machine openings are too narrow, in the case of a CT or MRI machine.”
Discrimination and sexism can also discourage people with symptoms from receiving healthcare. The medical profession is not immune from the inequalities present in society at large. And reports, including a major paper by the WHO, detail the extent to which healthcare systems fail women and girls around the world. An investigation by the BBC found that “in the medical industry, there’s a long history of dismissing women’s pain. More difficult to determine is whether this is due to gender bias, a lack of medical research on women, or actual differences between how the sexes interpret pain.”
Living in diagnosis limbo
Patients with rare diseases often spend years in diagnosis limbo, with their symptoms remaining static or deteriorating, their daily lives on hold. This is commonly called the “rare disease diagnostic odyssey”.
“For those patients who know they have specific symptoms, not having a diagnosis is really a burden,” Sébastien Martel, Global Head of Rare Diseases at Sanofi, said in an interview. “It’s kind of like having a cloud above your head, not knowing when it is going to rain.”
Sanofi’s The Lantern Project addresses an access barrier faced by some by providing free genetic testing for patients in the United States who suffer from specific types of rare lysosomal storage disorders (LSDs).
But with rare diseases, one of the biggest obstacles is a lack of awareness, both in the general public and among physicians, Martel added, so Sanofi works with physicians across several different specialties and with patient advocacy groups to build awareness.
Most rare diseases are genetic, so we are “supporting activities around family tree mapping, for example, so that when someone with an ultra-rare disease is diagnosed, that person’s relatives have an opportunity to also be tested, if appropriate” said Martel.
Technology for early diagnosis
The benefits of early diagnosis allow people to move forward and optimize their chances of getting better. According to Cancer Research UK, more than 90% of women diagnosed with breast cancer at the earliest stage survive for at least five years, compared to around 15% for women diagnosed with the most advanced stages of disease.
Machine learning and other artificial intelligence techniques are starting to provide doctors with a new level of diagnostic insights. A French start-up, VitaDx, is using fluorescent imaging and machine learning to improve early diagnosis of bladder cancer by analyzing the shape, physiology and metabolism of potentially cancerous cells. The company is hoping to apply the technology later to early diagnosis of cancers of the lungs, stomach and thyroid. “Our goal is to massively reduce the medical impact of bladder cancer and its cost for health systems," Allan Rodriguez, CEO of VitaDx, said.
A start-up called Viz.ai, which uses machine learning techniques to read brain scans and assist in prioritizing patients, received approval from U.S. regulators last year to sell its stroke-detecting software to hospitals.
Big data and a better understanding of the human genome are also providing medical professionals with better tools to make faster, more accurate diagnoses and deliver more personalized treatments. Large, multinational databases of clinical data called patient registries can also play a key role in the study of rare diseases.
“We are really trying to leverage technology in order to shorten the diagnosis journey,” said Martel. One of our projects involves working with physicians on next generation gene sequencing to screen for several rare neuromuscular diseases at once.
Faster, cheaper mobile technology will also help doctors make remote diagnosis and allow medical professionals to supervise treatments of chronic diseases like diabetes more closely.
Life after diagnosis
Living without a diagnosis can be an isolating and lonely experience. We talked to our patients from around the world to hear how their diagnosis has freed them to take the next step on their healthcare journey, whether it was finding the courage to face a seemingly hostile world or the ability to fulfil a childhood dream.