Disease aware-mess

Do you know why we do not screen everybody for every disease that we can diagnose? Yes, it would be expensive but beyond that. If money was no problem, and logistically we could pull it off, would we test everybody for every disease?

The short answer is no because screening for disease can do more harm than good. That sounds counter intuitive but there are a few obvious examples that can start to make the point. Firstly, think about incurable disease. Is there any benefit to knowing ahead of time that you will be screwed in the future? Some will say yes, but others will say no. Let me enjoy my life in ignorant bliss until I become symptomatic.  

Luckily there are not many campaigns to raise awareness of diseases without a cure. The commercial appetite to diagnose is not there if nobody has a drug to sell. There are however plenty of companies that do have drugs to sell and that stand to benefit from disease awareness. In the most part this kind of work is fine, helping people recognise jaw pain as a potential symptom of heart disease, or urgency to urinate as requiring a trip to the proctologist are sensible campaigns that can provide a net-positive impact on healthcare outcomes. But not all disease awareness is born equal, and it worries me that agencies are unaware of certain healthcare concepts that they need to consider in the work they do.

There have been several changes to drug regulation that has encouraged pharmaceutical companies to invest in orphan drug development. So, in recent times, it is great to see treatments coming to market for particularly rare diseases. They usually cost a lot though because fewer patients mean that developmental costs and profits need to be recouped from fewer prescriptions and many of them use very sophisticated drug discovery and manufacturing techniques.

Also, rare diseases can take on average 4 or 5 years to diagnose and every circulating patient awaiting an accurate diagnosis, is millions of pounds in pharmaceutical revenue tantalisingly out of reach (yes yes it will be good for the patient too).

Operation ‘Find the Patient’.

Communications agencies are often front and centre of campaigns to help expedite diagnosis of the relevant rare disease. The time to diagnosis is an emotive unmet need. Imagine what it is like to live with uncertainty, with untold testing and medication taking, whilst edging closer to the correct diagnosis through a process of elimination. Agencies can help, they have the tools to bring a rare disease to people’s attention and leave it there. Front of mind for healthcare professionals and patients, will mean quicker diagnosis.

But rare disease awareness may not have a net-positive impact on people’s health. It is for similar reasons that we rarely screen for rare disease. The delay in diagnosis (whilst not desirable) does provide one benefit, we vastly reduce the amount of ‘long-shot’ testing for rare disease. Let me explain.  Almost as rare as the disease itself is testing error. Imagine that a test had an error rate of 1 in a million and a rare disease occurred at a similar frequency, in 1 in a million. If you tested a million people at random, then you may diagnose 2 people. One who has the disease and one person who was falsely diagnosed by an erroneous test. Ruling out more common diseases first leaves a testing population that will have a much higher prevalence of disease than the general population. Suddenly, for every 1 million people you test, 25 have the disease and only one false diagnosis occurs.

 Now these figures are used to emphasise a point and not indicative of a real-world example. I am of course not saying that we should not be raising awareness of rare disease, especially in the right populations. Nor am I suggesting 5-years of misdiagnosis is a good thing. But whilst testing error exists, agencies need to ask whether the rare disease awareness campaign they have just been asked to support, is a responsible piece of work to run with. I certainly do not believe in public rare disease awareness. Besides, we already have enough things to worry about.

Incidentally having a rare-disease is much more common than you would think. 1 in 17 people will suffer from a rare-disease in their lives - there are a lot of different rare diseases to go around.