On 2 January, Dr. Odile Kremp replaced Dr. Ségolène Aymé as the Director of Orphanet, the pan-European rare disease and orphan drug portal. Paediatrician and Doctor in Public Health from the University of Nancy (France), Dr. Kremp has held various different hospital posts in neonatology and paediatrics. She was Chair of the International Club for Social Paediatrics from 1994 to 1998. In 2008, Dr. Kremp was in charge of monitoring the French Rare Disease National Plan at the General Directorate for Health (the French Ministry of Health). She has carried out 18 paediatric missions to Vietnam since 1993 under a scientific collaboration programme directed by the Ministry of Foreign Affairs. She is Professor Honoris Causae, at the Medical University of Hanoi (2010). Here Dr. Kremp discusses her new role with Orphanet:
Can you describe the path that brought you to Orphanet?
I have always been involved in paediatrics and public health, in the fields of clinical practice, teaching and research. I met Dr. Ségolène Aymé in Montreal in 1986, while doing an internship as a young researcher at the University of Montreal with whom she collaborated. I have always been interested in the comprehensive care of children and their families, and I chaired the International Paediatric Social Club from 1994 to 1998. As a paediatrician at Amiens and as department head at Lille, I of course worked with children with rare diseases, and immediately used the resources of Orphanet, starting with the first paper directories. In 2007, while still a professor of paediatrics at Lille, I became rare disease coordinator at the Institute for Public Health, where I worked on the prioritisation of rare diseases in terms of public health. I also participated in meetings of the Rare Disease Task Force and followed the creation of the European Communication on rare diseases. I joined the French Ministry of Health Directorate General of Health (DGS) in late 2008 as a project manager for the French National Plan for Rare Diseases and contributed to the evaluation of the first plan, and the process in the summer of 2009 to build the second plan (2011 to 2014). From my position with the DGS, I paid most attention to the epidemiology of rare diseases and the training and information for patients and professionals, support for associations, and educational therapy. I continue to participate in EU meetings (including the development of the European Commission Recommendation on rare diseases and implementation of the EUCERD, launch of the Spanish strategy, and meeting of the European Chief Medical Officers on rare diseases). So I have gotten to know and worked with many partners in the field of rare diseases, particularly following the activities of Orphanet and various members of the French rare disease platform.
What are your thoughts on the current situation of rare diseases in France and Europe?
France began to consider rare diseases in the early 1990s, before other European countries, led by patient associations and physicians, through a reflection on orphan drugs. The systems implemented for diseases such as haemophilia, amyotrophic lateral sclerosis, or cystic fibrosis foreshadowed the reference centres in the field of rare diseases, as well as the network of centres of competence. Orphanet has played a major role in informing and training medical professionals. Though of course, all is not perfect, the size of France and its hospital organisation have allowed for the structuration of care. Care, including the social impact of disease and disability, still needs to be improved, and particularly by encouraging young social scientists to get involved. Epidemiological knowledge must also be strengthened, based on a common coding and a collection of structured information in order to build a national database of rare diseases, which will help to tailor the policies of the health system and to focus research.
In Europe, governments have slightly different positions on rare diseases, according to their history, the size of their country, and their health care system, but they all are eventually adopting recommendation on rare diseases. Several countries have already implemented plans or strategies for rare diseases. The fact that many countries are partners in the Orphanet Joint Action, which started in the Spring of 2011 with the support of DG Sanco, will optimise information for patients and professionals, leading to better understanding and identifying of patient needs in terms of care and research, both fundamental and therapeutic. The implementation of the Directive on the rights of patients and cross-border healthcare adopted in 2011, is expected to eventually identify the relevant care networks throughout Europe.
What are your hopes in working with Orphanet? How would you describe the Orphanet of your dreams?
It is a real challenge to take over from Ségolène Aymé, who developed a very powerful tool, one that is renowned in France, Europe, and internationally. I hope to contribute, with the help of the highly motivated team, to pursuing the national and international development of Orphanet, in order to better meet the needs of patients and health professionals.
Ideally, the Orphanet nomenclature will be used in all the medical information systems, to better describe the disease and patient outcomes. It is hoped that using Orphanet will become an automatic reflex for physicians seeking a diagnosis as well as a therapeutic strategy. Orphanet can also be better harnessed to help researchers communicate, and to help both researchers and patients to identify experts and other patients. Many elements to accomplish these goals are already in place! But my vision for Orphanet will grow as I get to know the many different facets of its unique offer. Indeed, I realize that I do not yet know the full potential of Orphanet - particularly in terms of bioinformatics and analytical knowledge, and I look forward to learning a lot through working with the team.
In your experience, what does the field of rare diseases most need now in order to evolve?
Collaboration between patients and professionals, which is already narrower than in other areas of medicine, needs strengthening. The public support must remain strong in the face of illnesses that, taken one by one, affect few patients, but collectively are a public health issue as important as diabetes, asthma or chronic kidney failure. The investment of the pharmaceutical industry, supported by epidemiology and basic and clinical research, is essential to the development of innovative medicinal products, for treating rare diseases, and as models for less rare diseases.