Hidden Costs of Rare Disease Project

The Hidden Costs Feasibility Study has recently finished.

In this study we have assessed how best to measure and evaluate the true costs of managing rare conditions. Anecdotal evidence suggests that different levels of service coordination can have a significant psychosocial impact on patients, but to date, this has not been well researched. Neither is much known about the health economics of service coordination for rare diseases, from the point of view of the costs to the NHS and the financial burden on patients.

The study supports the development of future research in this area in a number of ways. The final report, which was recently published, revealed that:

  1. Receiving coordinated care is important for those affected by rare conditions, which are often serious, chronic and complex in nature. Yet, coordinating care for patients remains a challenge and there is huge inequity in the way that services are currently organised.
  2. The full costs and benefits associated with different models of care for rare disease patients are unknown.
  3. Patients and families face significant (‘hidden’) costs (both financial and psychosocial) associated with the way that their care is managed. Currently, such evidence is not routinely collected or considered in commissioning decisions.
  4. Existing data sets are unlikely to be sufficient to collect the full range of costs identified in this study and any future research project would need to consider the use of new data collection tools.

You can read the full final report here and the executive summary here.

We are currently developing a proposal to conduct more in-depth research in this area. Such research will be valuable evidence for decision makers and commissioners as they plan service developments and support best practice.

For further information please contact Dr Amy Hunter.

We are grateful for the support and advice of Professor Steve Morris, of UCL, and the project’s steering group. We would also like to express special thanks to the patient organisations and all of the participants who have contributed to the research over the past year.


The level of awareness of specific rare diseases is inevitably low among most health professionals, and those with specialist knowledge of specific rare diseases are rare. This means that it can take patients a long time to reach a correct diagnosis – and half of children given a test for a suspected genetic condition will not receive a diagnosis. An overly long process of diagnosis can mean having to attend lots of appointments for different investigations which take time and effort by both the individual and the NHS. Even if a diagnosis is reached, the management of many rare diseases is complicated by the fact that several different systems in the body may be affected and patients may require a range of interventions. This means that an individual will need to see several different medical specialists, normally on an ongoing basis.

A few rare diseases are served by the NHS in a coordinated way. Coordinated services bring together teams of different clinicians to better manage rare and complex conditions. However, most patients with rare diseases do not have this kind of service available and still must travel to many different appointments. They will often see specialists without extensive experience of their rare disease. The impact on patients and their families can be huge, and varied. There is evidence that families themselves, as well as the NHS, face a significant financial cost because of the needs of their rare disease. For example, families can face lost earnings and ongoing travel costs (the ‘hidden costs’ of rare diseases).

The study consisted of the following stages:

  1. Literature review of psychosocial impact and cost implications of health services for rare diseases.
  2. Assessment/piloting of various approaches to studying the psychosocial impact and cost implications of health services for rare diseases, in the UK.
  3. Development of full scale research proposals and application for funding.

Read full report here