Hi. I'm Art Caplan at the Division of Medical Ethics at New York University (NYU) Langone Healthcare System.
The Orphan Drug Act, something you're probably not thinking about every day or gabbing about around the water cooler, is a very important piece of legislation that has fueled many major activities in healthcare—probably even in your healthcare practice. The law was put in [more than 35 years ago] and was an effort by the federal government to have drug companies pay attention to rare diseases. Indeed, the definition of an orphan disease is one that occurs in fewer than 200,000 people in the United States.
Drug companies and biotech companies were not really trying to find answers and solutions (ie, diagnostic tests or drugs) that would help people who had rare diseases. There are plenty of them. If you total them all up, there are actually large numbers of Americans that have rare diseases. But for any one disease, it didn't seem that it had the market to support a drug company trying to do research and get into that area. So, incentives were built in, such as extra patent protection and financial incentives. We have seen a rush by many pharmaceutical and biotech companies to look for answers and go after many of these rare diseases in the form of gene therapy, targeted drugs, precision medicine, immunotherapy, CAR T-cell therapy, and a wave of other new treatments. Many of the rare diseases that beset children and adults are triggered by simple genetic errors (eg, storage disease), and if you can find some way to handle the pathway problem that the genetic error causes, you may well be able to do something about it.
That is all great. But the industry has shifted over now to chasing perhaps too many rare diseases while ignoring more common problems—or complex, in terms of the genetics. We don't have as many new drugs for diabetes or asthma or other things that reflect the same kind of push that has taken place on the rare disease side. Moreover, prices for rare disease therapy have been going through the roof. This is where we get the $500,000 drug or the $1 million gene therapy, because if there are only 50 patients or 200 patients, the only way to make money is by charging outrageous prices. But those price increases are leaking over to everything, like insulin, and impacting the ability of patients to pay—the problem of financial toxicity and the difficulty in handling copays. Ironically, a well-intended piece of legislation has fueled a price explosion, and perhaps a diversion of research toward [rare] problems, while ignoring things that are more common and seen as less lucrative.
The Act is up for revision this year, and I think we need to take a long, hard look at the incentives that were built in and the pricing structure that has accompanied this explosion of interventions for rare diseases. I'm not saying that we should give up on the battle against rare and orphan diseases. That is important. But we want to make sure that we're not incentivizing every company now to turn every disease into an orphan disease. If you have a genetic basis for disease and can get the number of people who have the genetic mutation for a particular kind of cancer under 200,000, all of a sudden, everything becomes a rare or an orphan disease. That is not the intent behind encouraging attention to truly rare diseases.
My hunch is that we're going to have to give up on the 200,000-or-less defining characteristic of what makes something an orphan disease and replace it with "neglected disease" or some other definition. Perhaps it would be defined by a panel or a group, maybe with [input from] patient advocacy groups who could draw attention to where there really are problems of getting research done with respect to uncommon diseases.
It's time to change the Orphan Drug Act and move it away from how common [orphan disease] is (because drug companies can redefine almost anything as uncommon) and let new legislation serve those who truly are burdened by unusual, rare, or orphaned problems.