Is it ethical to fund research into rare diseases?

Due to the biological complexity of humans, it is no surprise that thousands of diseases exist, many of which currently have no cure. Much of today's medical research is focused on explicating etiology and evaluation efficacy of novel treatments. However, with the multitude of diseases, it is sometimes difficult to allocate funding and resources.

Rare diseases and orphan drugs that are targeted to (sometimes much) less than 200,000 people have been historically controversial. Compared to conditions like Alzheimer's Disease, which affects more than 50 million people worldwide and still has no adequate treatment, diverting the limited amount of government research funding (as well as researchers themselves) to rare diseases is sometimes considered unethical. On the other hand, completely withholding funding means not everyone is guaranteed the same right to life. Without any form of research, people from rare diseases inevitably go through the course of the disease without effective intervention.

First, even if a rare disease is deemed scientifically worthy of studying (i.e., research findings have other applications), it is difficult to maintain confidentiality. With so few subjects, mentioning characteristics such as age, gender, and race may be enough to identify a patient. As sometimes the push for research involves some degree of publicity, such as extensive social media presence and viral crowdfunding campaigns, this lack of confidentiality may exist on a large-scale.

Financial considerations are even more problematic. Two main sources of funding are governmental and private. Critics of funding rare disease research point out that this depletes the budget allowed for research into prevalent illnesses, making it unjustifiable from a utilitarian approach. From a business standpoint, however, rare drugs may be profitable. Little competition for the same treatment that creates a sense of desperation for patients who have no other options and allows businesses to hold monopolies over a drug, setting the price artificially high.

Furthermore, there is not enough government money to fund research into every rare disease. Thus the question arises: What makes a disease worthy of funding? Is a rare disease that is 'less rare', affecting more people, more worthy of funding? What about diseases that can contribute more to larger scientific conversations? Finally, what about diseases that affect some prominent or wealthy figure?

Private funding often focuses on the last case. While, unless directly affecting a government entity, it is difficult to justify research on the basis of individual benefit, private funding may be awarded solely in attempts to same a particular person. For instance, wealthy parents may be able to fund the a large portion of research and treatment efforts for their child. Similar efforts are unavailable to people with a lower socioeconomic status, revealing economic disparities.

Overall, despite the multiple ethical reasons against funding rare diseases, it may be more unethical to knowingly avoid funding research where therapeutic benefits are possible, especially in life-or-death situations. Thus, those looking to research rare diseases need to take extra precautions to protect the rights of patients and funding mechanisms should reevaluated.

If you're interested in reading more, this article in the journal Risk Management and Healthcare Policy explores this issue in greater depth.