This time last year we published an Insight on why we at OHE care about rare, summarising OHE’s relevant research over the past several decades. Today, we publish our latest Insight highlighting current policy challenges and solutions in the rare disease space.
It is a hugely exciting time for treatment innovation. This week alone, OHE colleagues have been sharing insights on whether HTA methods are fit to judge the value of Cell and Gene Therapies, and solutions for improving access to advanced therapies in rare disease. There is no denying that the potential to treat these conditions is expanding exponentially.
Yet, my personal experience of rare disease feels very different. I have a young son with an ultra-rare neurodevelopmental condition called Malan Syndrome. Only around 350 other people share the diagnosis, globally. There are no treatments. It took nearly 5 years for us to get a diagnosis. While the condition is extremely rare, our experience is very common.
There are around 7,000 rare diseases (impacting fewer than 1 in 2000 people) globally; 85% of them affect fewer than one in a million. 8 in 10 are genetic in origin. 95% lack any kind of approved treatment. The average time to diagnosis is 5 years.
Today, I want to celebrate diagnostic advances and advocate for more widespread, speedier access in this space. 25 years ago the Human Genome Project sequenced the entire human genome for the first time. It took a decade to complete and cost billions of pounds. Now, we can sequence a person’s entire genetic material (“genome”) in just a few days, at a cost of less than £1,000. This is a groundbreaking advance in the potential to diagnose rare conditions. Launched in 2014, the project reached its 100,000th person 10 years later. My son is one of those 100,000.
An accurate diagnosis unlocks so much: access to existing support, to the right medical teams, to communities of other families going through the same, and the ability to both learn from and contribute to the data collection and evidence building that can inspire and enable the treatments of tomorrow.
