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The promising pipeline of drugs in development for rare diseases does not fully deliver, with only 15% of products with an orphan designation reaching the market. Among the causes is the difficulty to assess the safety of a new product when data is limited.

Regulatory authorities have a mandate to assess the benefit-risk balance in order to make a decision about any new product. They assume that patients share their views on how to weigh the benefits and risks.

However an excessive focus on avoiding risks and uncertainties concerning new medicines might not be what patients favour when they have a life-threatening disease.

Do preferences differ for professionals?

The study published by Morel et al. explores the benefit-risk preferences of patients with rare diseases, to document whether they differ or not from the preferences of professionals.

It considers what patients and caregivers value when choosing between hypothetical therapeutic options and quantifies both their benefit-risk preferences and the influence of a disease’s context, for instance the severity of the malady.

The study supports the hypothesis that patients and their caregivers are willing to accept greater risks or side effects associated with a new medicine, for instance, in the hopes of there being an extra chance of drug response or potential health improvement.

The web-based study was conducted in the United Kingdom, in collaboration with patient organizations whose activity is targeted towards patients and families affected by rare diseases.

The study supports the hypothesis that patients and their caregivers are willing to accept greater risks or side effects associated with a new medicine, for instance, in the hopes of there being an extra chance of drug response or potential health improvement. Attitudes about benefit versus risk may change over time with disease progression or context of care.

The study also shows that rare disease patients and their caregivers have a realistic view and attribute the most importance to a potential drug response which could be interpreted as giving them a sense of ‘pragmatic hope’.

Two dimensions of highest value were the risk of serious side effects and the ability to conduct usual activities while on treatment

The other two dimensions of highest value were the risk of serious side effects and the ability to conduct usual activities while on treatment, a feature which is usually overlooked by researchers and clinicians who tend to focus on consequences of a disease rather than on how the patient feels and lives on a daily basis.

In contrast, attributes related to treatment modalities (i.e. how long, where, and how to take the medicine) were deemed the least important, although the latter tends to be the focus of many drug development programmes.

What does this mean?

Overall, the research findings highlight the need to systematically include patients in the process of identifying meaningful treatment outcomes that resonate with their experiences, preferences, expectations, and values.

This is not trivial, as developing patient-centred outcome measures requires qualitative research which is time-consuming and methodologically complex. In addition, the findings highlight that Health Technology Assessment agencies need to consult patients when assessing the added-value of new medicinal products which present both side effects and potential alleviating effects.

The same principle applies when physicians have to make an individual decision about a prescription. They should communicate about the benefits and risks and let the patient choose. We anticipated these results, but it is better to have a sound study supporting them.