«Rare Disease and social responsibility», Interview Prof. Nikola Biller-Andorno, Director Institute of Biomedical Ethics and History of Medicine (IBME), UZH
How would you characterize the therapeutic experience of patients suffering from rare diseases?
It seems adequate to coin the term “diagnostic odyssey” – patients often endure significant suffering, encompassing emotional and physical distress due to prolonged periods of uncertainty. They are frequently misdiagnosed or diagnosed after years of lacking knowledge about their diseases. Patients and their families might feel helplessness and fear about the unknown future and the progression of the condition. Furthermore, without a proper diagnosis, patients might not receive appropriate treatments, which can lead to even more prolonged suffering and deterioration of health. We can also speak of an odyssey in terms of financial burden: The diagnostic journey often involves multiple doctor visits, consultations with specialists, and various tests, all accumulating significant medical expenses. Often, patients express that they feel socially isolated. The rarity of these diseases can result in a lack of understanding and support from doctors, employers, and friends. Ultimately, this may also lead to mental health issues such as depression and stress.
Can patients with rare diseases access treatments? What about responsible pricing?
The high prices of therapies for rare diseases have long been a significant concern in the healthcare sector. This concern has intensified with the introduction of very expensive therapies. For example, in 2019, US authorities granted approval for Novartis’ gene therapy Zolgensma to treat a deadly muscle disease in children known as spinal muscular atrophy. This rare genetic condition weakens muscles, leading to immobility in children. The price for this one-time therapy is 2.1 million CHF, which makes it the most expensive drug ever approved in Switzerland.
However, it’s essential to consider that an alternative treatment, Spinraza, requires lifelong administration and incurs costs of four million Swiss francs over ten years (see). Therefore, we might argue that Zolgensma’s high price could be somewhat justified, as it is a single treatment significantly enhancing the quality of life for affected children and families.
More generally, there are several factors that contribute to the elevated costs of treatments for rare diseases: Firstly, rare diseases affect only a small number of people, resulting in limited potential markets for these treatments. Companies may set higher prices to recover research, development, and production costs due to expected lower sales. Additionally, developing treatments for rare diseases often incurs substantial research costs due to limited understanding of these diseases, which leads to higher expenses in research. High research costs can also stem from regulatory challenges regarding preclinical research, clinical trials, and approvals. Finally, producing therapies in smaller quantities for rare diseases increases manufacturing costs per unit, which has an impact on the overall price. Lack of competition in the field further exacerbates this situation. In some cases, treatments lack competition due to rarity of the health condition, allowing drug manufacturers to set prices without market pressure.
How can we balance the high costs of drug development and access against the perceived benefits for individual patients who suffer from rare diseases?
This is a very difficult question at the heart of public debating about rare diseases. It is possible to perceive the situation as follows: The personal benefit can be extremely high for individual patients who are often affected from severe diseases that impair the quality of life considerably. Take for example patients who suffer from porphyria. Patients face significant challenges when sunlight exposure triggers skin fragility, blistering, and itching, preventing them from easily being in the sun. This restriction is highly burdensome and having an effective treatment can significantly alleviate these difficulties.
Here, one proposal might be to involve patients in assessing the benefits of drugs. At times, policymakers may overlook benefits of treatments for rare diseases, as they are less cost-effective compared to treatments for common diseases owing to the small patient cohorts, without fully considering the severity of these diseases. However, for small patient groups, the benefits of treatment, even with high costs, may be justified because they imply a significant increase in quality of life. Differently put, what might seem like a minor improvement could hold immense significance for those enduring these conditions. Considering the perspectives of patients directly affected by rare diseases can then become crucial for the evaluation of treatment benefits.
How should our health systems repsond to rare diseases? Do we need more solidarity?
Solidarity in the context of public health and therapy financing embodies a collective commitment to ensure universal access to healthcare services and treatments, regardless of individuals’ financial standing or specific health conditions. This constitutes the foundation of our public health services, research endeavors, and insurance systems. Health equity, a crucial aspect of solidarity, entails addressing disparities and striving for equal health outcomes among diverse patient populations. Central to this concept is affordable access, ensuring that necessary medical treatments are financially attainable for everyone. This becomes particularly significant from a luck egalitarian perspective, which acknowledges that individuals with rare diseases bear no responsibility for their conditions.
When considering the financing of therapies, a mere cost-effectiveness analysis of outcomes might not fully uphold equity for patient groups affected by rare diseases. This perspective might urge us to explore additional arguments based on solidarity that consider research and the access to treatments as a communal responsibility.
Status: February 2024