Even though it only happens once a year, it seems like it was just Rare Disease Day. We still live in a world where there are over 300 million people living with over 6,000 rare diseases. That’s enough to populate the world’s 3rd largest country. They have family, friends, coworkers, fellow students and people they don’t even know in their world. Doesn’t seem very rare, does it? It’s not. Collectively we are not rare at all.
So, if it isn’t really rare, why do these diseases often take so long to diagnose? The simple answer is that it often doesn’t have to. As a society we make choices. We invest in roads and bridges and healthcare. When something is important, we make it happen. I just read about a pipeline that’s billions of dollars over budget. You know that money will be found somewhere. I think it’s fair to say that we live in a world where diagnosis takes too long, because we choose it to.
The cost of delayed diagnosis to the person and their family is obvious. Loss of quality of life, pain, relationships, friends, work, and life itself. We don’t often enough think about the opportunity cost though. While these families are busy struggling to look after themselves, they aren’t designing new hi-tech cars, brokering peace, or delivering babies. It’s hard to measure these things, but there is a real cost that we aren’t appreciating. Remember, we’re talking about over 300 million people!
I believe there is going to be a paradigm shift in how we develop treatments and what eventually become available to patients. The vast majority of these diseases have no treatments at all. How can this be when over 70% are genetic? This will happen, but even now we aren’t getting current therapies to patients quick enough. That has to change.
How do we shorten diagnostic time? Two ways. First, where appropriate, newborn screening. We need to re-evaluate our criteria for screening. We don’t live in the 1960s. Screening can be used to save babies, but also eliminate years of suffering for others. Is it really ethical not to do that?
Second, genetic testing. It’s time we invested in the people and infrastructure to make this a more reasonable option. We need to train more geneticists, genetic counselors and technologists. Add more seats in schools. There’s no longer any reason for this service to be more complicated than sending a person for an x-ray. We spend billions of dollars on pipelines, aren’t people just as important? No excuses, just do it.