How would patients with rare and serious conditions regulate medicines?

How well do current regulatory decisions about new medicines reflect the views of patients? How would patients affected by rare and serious conditions weigh the risks and benefits of new medicines? Is the current system fit for purpose for these patients?

Amy Simpson, research associate at Genetic Alliance UK tells us about their recent ‘Risks and Benefits’ study which explored these issues with patients and their families and explains how it could have important implications for how medicines are regulated in the future.

What did we do?

All medicines have to be licenced before they can be given to patients, but little research has been carried out to ask patients their views on licensing and in particular the risk benefit assessments that are a part of this process.

At Genetic Alliance UK we work with patients with rare and serious conditions, many of whom have no licenced treatments available to them. In our recent ‘Risks and Benefits’ study with the Welsh Institute for Health and Social Care (University of South Wales) we asked patients and families across Europe how they perceive the risks and benefits of new medicines, and how decisions made during the regulation process might reflect their preferences.

What did patients and families with rare and serious conditions tell us?

  1. Regulators should broaden the evidence they use in the development and authorisation of new medicines, rather than focusing too much on biomedical endpoints. For example, patients placed great importance on their independence and ability to work. Valuing and including psychosocial factors like these in the risk benefit assessment would ensure that decision makers consider the wider context – the potential impact of a medicine on a patient’s (and their family’s) day to day life.

  2. Patients with rare and serious conditions may be more willing to take greater risks and tolerate more adverse outcomes than patients with common or less serious conditions. They hoped that regulators could reflect this by being more permissive and less risk-averse in their licensing decisions for these conditions. Patients agreed that those affected by rare and serious conditions should be given the choice to access medicines:

    - Where it is uncertain how the medicine will work

    - Where it has been tested on fewer people than usual

    - Sooner than usual

  3. Patients should be more involved in all stages of the licensing process, from setting the research agenda, to post-market authorisation (licensing) decisions. Their preferences should be represented to ensure that the benefits which really matter to patients, and the levels of risk they are prepared to tolerate, are considered in the decisions. Patients should be supported to be joint decision makers, alongside clinical experts.

Patients had strong views on the issue saying:

If there is a last chance for you to fend off a terminal illness, surely the patients (not regulatory bodies) should decide if they want to take the risks associated with it.

The benefits should be wider than a clinical, medical perspective and also include psychological and social benefits....ability to work...ability to socialise, maintain relationships, contribute, quality of life, well being.

(Citizen's Jury, Reflective Diary)

What are the policy implications?

The ‘Risks and Benefits’ research has important messages for the direction of regulatory practice in the future, particularly in the field of rare diseases. Findings suggest that the traditional system does not necessarily meet the needs or preferences of a population with such a significant unmet medical need.

The European Medicines Agency (EMA), recently launched the pilot stage of its Adaptive Licensing initiative, which aims to allow some medicines to be licenced sooner and then monitored in a small defined population in the real world before being made more widely available if the medicine shows promise.

Such an initiative goes some way to meet the recommendations of the patients and families who took part in our study, potentially giving those with rare and serious conditions access to more medicines, more quickly, with greater value placed on the impact of a medicine in a real world context.

Where can I find out more?

Genetic Alliance UK is holding an event at the European Parliament on 4 November 2014 to discuss the implications of the ‘Risks and Benefits’ research in the context of the new Adaptive Licensing initiative.

If you would like to find out more about the event please contact If you would like to know more about the ‘Risks and Benefits’ research, please contact Amy Simpson, research associate at Genetic Alliance UK (