The common problem of rare disease in general practice

Med J Aust. 2006 Jul 17;185(2):82-3. doi: 10.5694/j.1326-5377.2006.tb00477.x.


Rare diseases affect 6%-10% of the population, which equates to about 1.2 million people in Australia having a rare disease. The United States, the European Union and many other nations have coordinated policies and patient advocacy groups for rare diseases as a group. Australia has enacted orphan drug legislation, but there is no coordinated approach either from government or from patient groups. General practitioners see rare diseases commonly, but their role for this group has not been adequately described. People with rare diseases and their families have similar experiences despite their different diagnoses. GPs are well placed to help with these problems. The development of a generic general practice strategy for these patients may improve their overall care.

MeSH terms

  • Australia / epidemiology
  • Family Practice*
  • Humans
  • Prevalence
  • Rare Diseases / diagnosis
  • Rare Diseases / epidemiology*