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Is it worth researching rare diseases, Bernice Elger?

Text: Bernice Elger

Does it make sense to promote research into diseases that only affect a very small number of people? A health economist and a medical ethicist offer contrasting views.

"Is it worth it?” can be a tricky question. This is something most of us have probably realized, for instance when deciding whether to go to university or not. My 12-year-old son recently attended a school event in which the various types of schools and qualifications were presented. After the event, he was left wondering whether it made sense to take the school-leaving exams and pursue a traditional university degree, as dual vocational training would allow him to start earning money much sooner. Whether a particular course of action is “worthwhile” depends, among other factors, on whom we intend it to benefit, the kind of benefit expected (quality of life, financial gain, etc.) and whether this benefit will make itself felt in the short or long term.

The question of whether researching rare diseases is a worthwhile endeavor demands a nuanced approach to each of these aspects. “Rare diseases are a mass phenomenon,” a headline in the German weekly Die Zeit rightly declared several years ago. If we consider the various rare diseases as a whole, they become common, affecting 6 to 8 percent of the population of the US and Europe – or 30 million people in the US and even more in the EU, which has overtaken the US in terms of population.

It is plain to see that research into rare diseases is worthwhile from the point of view of the many millions of patients directly affected by them and their families. In the past, research has helped us to better understand disease mechanisms and find therapeutic or preventive measures. For patients, the progress achieved through research does not merely bring a higher quality of life – in many cases it is a matter of life and death, or at least a substantial difference in life expectancy. It also brings short- and long-term financial consequences – for those affected, as it enables them to work longer and earn their livelihood, but also for society in general, as patients whose condition is cured or at least stabilized can pay their own way and contribute as taxpayers.

Within the scientific community, researching rare diseases is generally considered to be worthwhile in the long term, as in many cases research findings do not just apply to a single rare disease, but rather enable critical insights into many other conditions and their genetic or pathophysiological mechanisms. Critics often reject this position, arguing that for the majority – the 90 percent of people not affected by rare diseases – the research is not financially warranted. Calculations of this sort are short-sighted, however, as they do not take into account all of the potential benefits the research can bring.

Critics typically fail to consider aspects such as the economic contribution of cured or stabilized patients, or the long-term benefits of research findings for our understanding of other diseases, rare or otherwise. What is more, they almost invariably forget the concrete ethical benefits to our society, the importance of which to our collective well-being should not be underestimated.

Bernice Elger has been a professor at the University of Geneva since 2007, and was appointed full professor and Head of the Institute for Biomedical Ethics at the University of Basel in 2011. After studying medicine and theology in Germany, France, the US and Switzerland, she obtained a degree in theology and an FMH in internal medicine. She has published primarily in the fields of medical ethics in genetics, clinical ethics and research on biobanks and human tissue, as well as human rights issues.

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