An information system for the national rare diseases strategy

Services | 20 May 2010
ASIP Santé is offering its expertise in helping to define the IT systems element of the national rare diseases strategy no 2. The objective is to improve the everyday treatment of patients affected by rare diseases. An overview of the ongoing discussions.
Rare diseases affect a small number of people in the overall population. In Europe, a disease is described as rare if it affects less than one person in 2,000. In the French population, this means that a given disease will affect 30,000 people.
Paradoxically, there are thousands of rare diseases. In France, rare diseases affect 6% to 8% of the population, or 3 million people. These are serious, chronic, progressive diseases, many of which are untreatable. 65% are incapacitating, and result in a lack of independence which has an impact upon the everyday lives of patients and their families.

Rare diseases: one of the priorities of the law of 9 August 2004

The two principal features of rare diseases – the fact that they affect a small number of patients and that there is limited expertise for each one – means that in order to guarantee these patients access to quality care, healthcare professionals need to cooperate at national level, to better share their knowledge and expertise.
In the law on public health policy of 9 August 2004, rare diseases are recognized as one of the five priorities which require a strategic plan. Prioritizing them in this way resulted in the first national strategy for rare diseases for the period of 2005-2008.
The implementation of a second national strategy for rare diseases was announced as early as October 2008 by the French president during a symposium on "Europe and rare diseases". 
The plan has been in development since October 2009 under the aegis of Professor Gil Tchernia, who has been appointed for this multi-ministerial assignment involving the French Ministry of Health and Sports; the Ministry of Labour, Social Relations, Family Affairs, Solidarity and Urban Affairs; the Ministry of Education and Research; and the Ministry of the Economy, Industry and Employment.
It will be published during the first quarter of 2010 and will cover the period of 2010-2014.

Improving treatment via telemedicine

Since these diseases are so rare, healthcare professionals, including frontline doctors, as well as patients and their families, are confronted with a lack of information – even though the condition can frequently be life-threatening if treated inappropriately. Clinical, diagnostic and therapeutic expertise are necessary but difficult to access, because the centres for expertise, treatment, diagnosis and monitoring are scattered all over France and sometimes even beyond.
From a scientific and medical point of view, even now, little is known about many diseases, and therefore a significant number of patients have not been given a diagnosis. For knowledge of these diseases to progress quickly, research teams need to work together and compare their observations and the results of their studies, sometimes on a daily basis. Sharing and exchanging information is essential, but this is complicated by the fact that the research locations are geographically dispersed.
The actions undertaken within the framework of the first national strategy for rare diseases enabled some major advances to be made from an organizational point of view. Hospitals organized themselves into healthcare networks, structured around specialist centres, reference or competence centres, to offer patients specially adapted access and treatment facilities throughout France. Research teams were given substantial resources to conduct epidemiological studies and present the results of their research to international bodies like the World Health Organisation (WHO).
The second national strategy for rare diseases completes and continues the actions already undertaken. A new objective is to promote the use of information and communication technologies, such as telemedicine services. 
In accordance with its role, ASIP Santé has offered its expertise in helping to define the measures to be implemented to develop a national rare diseases information system in France.

The construction and rollout of the rare diseases information system 

The rare diseases information system is being developed to respond to the need expressed by healthcare professionals to work together, and in a more collaborative manner, for the benefit of their patients, despite geographical distance. This information system is also the best way to set up knowledge bases (patient registers and cohorts), which are essential for clinical and epidemiological research and for the development of new medicines.
The agency is proposing that four specific measures be included in the national strategy for rare diseases 2. A rigorous methodological approach will be used in their deployment, so that they can develop in harmony with healthcare stakeholders and solution providers, and in coherence with the other measures in the plan.
What do we want to do? This question is the backbone of the first stage. A needs analysis will be conducted in order to determine the services to be provided by the diseases information system in a reliable, secure space.
How are we going to do it? This is the subject of the second stage, which will list all the projects required to reach the target set by the first stage. The technical specifications and guides for companies about how to implement the solutions will be drafted. The methods for integrating the national frameworks (confidentiality and security frameworks for example) will be clearly defined.
Implementation: this is the objective of the third stage, which consists of setting up implementation projects and rolling out the communicative applications in the form of pilot projects. This set-up will enable the design options selected to be assessed, and to prepare for the national dissemination of the company tenders resulting from these projects.
Finally, the fourth stage will see the support of the national rollout of the rare diseases information system.