One of the most basic ways to understand the world is to count something. Often, that’s easier said than done.
A lot of my recent professional life has centered around the question, how many patients would benefit from the medicine my company is thinking of developing or buying from another biotech? This is important because we can’t develop or buy all the medicines out there, so we want to focus on where the biggest unmet need is.
Conveniently for me, business and moral imperatives are aligned in that respect. Inconveniently for me, the number of patients for a given disease is also a lot harder to determine than I’d have thought possible before I started obsessing about it. There are thousands of the rare, severe genetic disorders that I work on, and we have precise estimates of their prevalence only for a few dozens which are included in newborn screening panels. For the others, we only have order of magnitude estimates at best. There are ways to improve those estimates, but none of them are perfect.
One problem is that we don’t know the prevalence, i.e. the proportion of people with the disease. I used to think that the denominator, i.e. the number of people out there, is the easy part. This is true for developed countries like the US or Europe, but as David Oks argues, for a lot of the developing world, we simply don’t know how many people there are
Nehaveigur 