Personalized medicine and rare diseases go hand in hand. With the help of advancements in genomics and the U.S. Food and Drug Administration’s Orphan Drug Act, more than 350 new therapies were approved for rare diseases between 1983 and 2011 [PDF].
But with close to 7,000 known rare diseases, it’s a space that’s still in need of innovation.
Mike Scott is chairman of the board of directors of the National Organization for Rare Disorders, and he’s spent 40 years working in scientific and medical communication. In an interview with MedCity News, he explained what’s helping bring new rare disease treatments to market and what needs to be done to keep them coming.
Big Pharma and small biotech companies both seem to be showing interest in developing rare disease therapeutics. What’s been the biggest contributing factor to their interest?
First of all, the potential to make profit from drugs that are valuable for rare diseases is not inconsiderable. If you can have the only drug that’s effective in treating a well-defined rare disease, you have a pretty good chance of being able to charge whatever the market will pay for that.
The second thing is the increasing ability to identify these diseases. The cost of genetic profiling has fallen, so we can now carry out genomic analysis at something like $1,000 to $5,000 per piece of DNA as opposed to hundreds of thousands of dollars. It is becoming increasingly easy to identify patients, so this contributes to the ability to commercialize a therapy because you can carry out a trial in a very specific subpopulation of patients.
It’s also become possible to build virtual discovery companies that can actually identify appropriate patients and carry out appropriate trials without enormous mechanisms that are necessary in large drug companies.
So these things have been enough to get investors interested, too?
When you put all of that together, the amount of money someone might have to put into a company can be a pretty good return on investment. We’re seeing quite a few venture capitalists — although not as many as I’d like — that are really interested in these diseases. At the same time, major drug companies that have had trouble developing the next blockbuster drugs are also seeing these as opportunities.
What about diagnostics for rare diseases?
Within the next 10 to 15 years, the ability to combine a diagnostic with a therapy is probably going to be almost required to get an orphan drug through the FDA. The most recent example is Pfizer’s Xalkori. With drugs that are based on the ability to genetically diagnose disease, we’re seeing more and more of this type of research coming to market. It also means you’re more likely to get an effective product.
How will achieving the $1,000 genome affect rare disease research?
If we get the cost of this sort of test down to the $100 level — which people are telling me they think is perfectly reasonable — you’ve transformed the way we go about diagnosing disease. It becomes something we can test a child for at birth and again throughout life. On the other hand, that on its own is not enough. It’s not just about what the genes are doing, it’s what proteins are expressed, how much they’re expressed and the ability of people to cope with those. The possibilities are multitudinous.
What are some of the barriers keeping orphan drug research development from moving forward?
The hardest thing is when you cannot identify a biomarker. If you can’t prove efficacy, that’s a problem. But there is a great deal of willingness on the part of the patient community to work with the FDA to better define the willingness of the patients to take risk. We’ve historically thought about these things in terms of risk of dying because the risk of dying from these diseases was quite high. That risk is falling and the problem now is living with the disease, which will kill you sooner or later. We’re now getting better at diagnosing these diseases, which means we are finding them earlier. But how aggressively do you treat them early on? We are in danger of overdiagnosing and overtreating some diseases. Our ability to make technological advances is not necessarily coordinated with how to apply it.