Dr Stephen Groft, Director of the Office of Rare Diseases (ORD) of the US National Institutes of Health,4 spoke at both conferences, describing ORD and some of its activities. ORD was set up in 1993 to stimulate and coordinate research on rare diseases and to support research to respond to the needs of patients with rare diseases. ORD supports a grants program to establish a network for research on rare diseases; grants are provided for such activities as the training of rare diseases researchers and programs to stimulate clinical research on rare diseases. Of particular interest to Australians because of its online accessibility is an information centre aimed at the public, researchers, and health care providers (http://rarediseases.info.nih.gov/asp/resources/rardis_info.asp). ORD also supports a national scientific conferences program to stimulate research and regional workshops to help patient support groups obtain assistance through the National Institutes of Health.

In April 1999, the EU Parliament set forth Decision No. 1295/1999/EC, adopting a program of community action on rare diseases within the framework for action in the field of public health (1999–2003). Many projects were funded under this program, and important initiatives that continued in the 2003–2008 European public health program5 include ORPHANET, a database for the general public on rare diseases (http://www.orpha.net/consor/cgi-bin/home.php?Lng=GB), and EUROCAT (http://www.eurocat.ulster.ac.uk/), which surveys more than one million births per year in 19 countries to provide epidemiological information on congenital abnormalities.

We heard about innovative Italian initiatives, including the national network for the prevention, surveillance, diagnosis and therapy of rare diseases made up of certified centres expressly identified by the regions (decentralised administrative units) and the National Registry of Rare Diseases. This registry is established at the Centro Nazionale Malattie Rare,6,7 led by Dr Domenica Taruscio. The centre carries out a wide range of activities including genetic research into rare diseases, quality assurance of genetic testing, primary prevention projects, maintenance of the rare disease registry, dissemination of information, development of guidelines, involvement and coordination of EU projects such as NEPHIRD, qualitative research on patients’ quality of life, narrative medicine, and training of health professionals.

The relative lack of coordinated activity in rare disease in Australia compared with the US and Europe is striking — we believe there is a need for a peak patient group (such as NORD or Eurordis) in Australia to lobby for patients with rare diseases.

Australia’s small population (with consequent small numbers of patients with any given rare disease) and geographic dispersal presents particular challenges in connecting patients with rare diseases with each other and with expert care. Presentations at the rare diseases conference covered a number of potentially useful strategies for connecting and empowering patients. Of particular note is Ågrenska in Sweden,8 which organises week-long camps at which families and patients with similar problems receive intensive education and establish connections with each other, and hear about specialist services. Ågrenska has been able to demonstrate better outcomes and cost savings through its strategy.8

Europe is establishing networks of excellence in which researchers and institutions with expertise in particular diseases are linked. We wonder whether Australian patients and clinicians with interests in particular diseases could join these networks, perhaps even participating in e-medicine consultations.

The specialists and scientist researchers at the conferences expressed frustration about the supposedly “low” level of skills of their primary care colleagues in identifying the rare disease in which they were expert. One specialist exclaimed that some GPs had never even heard of neurofibromatosis type 1. Some sessions at the conference presented this as an equity issue — surely, a patient with Prader–Willi syndrome has as much right to prompt diagnosis and evidence-based treatment as a patient with type 2 diabetes? The natural reaction is to call for more education of primary care clinicians in individual rare diseases. However, we do not think it would be realistic or even wise for GPs to use their time learning all the details of the 6000 identified rare diseases.4

We do believe that primary care has a neglected but important role in rare diseases. To date, progress in rare diseases has been driven by patients through their specialist clinicians and through public health institutions. Primary care clinicians provide a key link between patients in our community and the very specialised services those with rare diseases require. The Australian proposal of a generic model of general practice care1 was presented and discussed at the IRDC. One important and simple strategy identified during the week was careful monitoring of infant development as a generic strategy to screen for many rare congenital diseases.

A voice from the perspective of primary care seemed to be quite strange to this very specialised community. In the main, they welcomed the general practice contribution and were excited by the possibilities of adding a primary care perspective to the rare disease agenda. Patients at the conference in particular confirmed the need to continue to develop the role of primary care clinicians in rare disease.