Are We OK Letting Diagnosis Alone Be The Treatment?
We as a (Western) society have generally held three truths about how healthcare outcomes should be monitored and addressed in society.
Truth #1: If something is actually “wrong” with our health, doctors (elders/grandmothers) will be able to name it (the diagnosis thesis).
Truth #2: If one has a diagnosis for something being wrong, there will be a treatment prescribed/recommended in order to alleviate/improve these symptoms (the treatment thesis).
Truth #3: If a treatment is available and recommended for a specific diagnosis, the person will be able to use/benefit from it (the accessibility thesis).
However, as most people reading this realise at least by bullet three, these are — more often than not — fallacies rather that truths across the board, and even more so when it comes to healthcare conditions disproportionately (or exclusively) affecting women.
For the purposes of focus, I’m zooming into women’s health here, though I do want to draw attention to the fact that even in the most developed economies truth 3 rarely holds up, even when 1 and 2 could be argued to be acceptable given resource and research constraints. Treatment accessibility is beyond the scope of this discussion and deserves its own appropriate coverage (which shall be granted)ne. In women’s health, however, diagnosis itself is often still lauded as a privilege afforded to the few.
Ziwig Biotech, a French startup, just launched their EndoTest — a saliva-based diagnostic for endometriosis promising women the answer to whether they have endometriosis within a few days. For those less familiar, the reason this is important is because an estimated 10% of women are believed to have endometriosis — a severe condition with the tissue similar to that in the uterus growing where it shouldn’t, and causing extreme pelvic as well as (often neglected) psychological pain. However, despite the prevalence, many women (and those assigned female at birth (AFAB)) still have to fight and go through (on average) over 8 years and 10+ specialist doctor appointments before being able to receive a diagnosis. This often causes additional distress and pain to people with the condition, who feel that their needs are ignored (see here on the 7 things I learned about the gender pain gap in the last couple of years); while also often frustrating gynaecologists, who (wrongly or rightly) think that women may hold on to wanting “endometriosis” to be their diagnosis due to its familiarity even when that’s not the case. Normally, in order to confirm a diagnosis of endometriosis, an invasive procedure (a laparoscopy) needs to be performed. So, in that context, one can see how revolutionary a saliva-based test can be in allowing many more women access a diagnosis in a less invasive and potentially less safe-guarded way.
However, as exciting as this new technology is, one may become distracted from the reality that in the case of endometriosis, as is the case for most women-specific conditions, no real treatment exists (treatment options are very limited, see here if you’re seeking treatment), even with a diagnosis. And on the flip side, many people living with endometriosis can live without symptoms for many years and not even suspect they may have it.
For many years clinicians and scientists (myself very much included) strongly advocated for the fact that diagnosis is the first step in the treatment journey. On the one hand, it’s because a diagnosis is what doctors are trained to believe is the key to unlocking a treatment pathway (transitioning from thesis 1 to thesis 2 of our healthcare systems), but also because as online and IRL patient communities have blossomed in the last 5–10 years (like Nancy’s Nook for endometriosis), diagnosis opened up access for patients to groups of people with shared experiences, understanding and advice.
However, the more time I have spent working with women specifically, the more I have begun to recognise the inherent fallacy in promising women that diagnosis is a step in the trajectory to treatment, especially as most diagnoses begin and end with just that, leaving women with a name to their feelings of pain and distress, but rarely with options on what to do next.
So, the question then begs for itself — should we scale diagnostics prior to scaling treatment?
Or in other words, are people better off not knowing they have a condition labelled as such if we can’t provide treatment for it? In my view, this question of course applies across medicine (and most obviously in rare diseases), and leads to the following👇
People get diagnoses with (very limited to) no treatment options → Most of them are unlikely to see a treatment within their lifetimes but start advocating for more research + treatment development based on their diagnoses → The next generation of those diagnosed get treatment.
So, where I have come is that in the age of citizen science (and increasingly -citizen medicine as we’re seeing with the development of medical AI starting to assist GPs and surgeons in training as well as individuals experiencing symptoms at home that they may not be comfortable sharing with their doctors and consulting (conscious or not as they may be) bots instead) is that diagnosis empowers patients to have a voice that can stand up to that of doctors, scientists, or others wearing cloaks of authority. Often — by finding communities of shared experience. When that shared experience is one of frustration due to lacking research and solutions for their needs — these communities organise themselves into advocacy bodies pushing for change, more research and better solutions. Without this push — and without a name, a diagnosis, to create a short-hand if not an explanation for those shared needs– this advocacy work would be really challenging, if at all possible.
Finally, if you’ve entertained with me the idea that while not ideal (especially for the first generation of those diagnosed at scale), diagnosis without treatment options is still better (the personal benefits of knowledge and early detection, and community support, and the societal benefit to society of advocacy) than no diagnosis or treatment, I’ll leave you with a question that still challenges me as a scientist, an entrepreneur and an advocate: is it appropriate that community-led advocacy groups, such as IAPMD, are tasked with pushing society from the first boundary (diagnosis) to the second boundary (treatment)?
Is that inherently the role of patient communities, or is it a role that has been so grossly under-performed by researchers, governments, businesspeople, and clinical educators that communities have had to step in? In other words, is what we’re seeing — the system working well or poorly?
I’m keen to share the words of patients on the value –and burden, sometimes– of their communities to them in another piece. In the meantime, you may be interested to see that the way government funding bodies administer research dollars doesn’t seem to be fully linked to disease burden, even for diseases that have held diagnoses -and scalable diagnostics- for a while. Is, then, the prevalence of diagnosis and its severity, or the voice of the people behind them, what dictates where the research and innovation dollars will go in the future?
