Australia's first-ever National Recommendations for Rare Disease Health Care (the Recommendations) will be launched tomorrow to coincide with Rare Disease Day, which is being marked on the rarest day of the year in 2024 (29 February).

Overall, 80% of rare diseases are thought to have an underlying genetic basis but health care outcomes are poor, with less than 5% of rare diseases having a curative treatment. The eight recommendations describe practical steps that Australian health professionals can take now to provide optimal care that aligns with the preferences and needs of people living with rare disease. These steps include identifying red flags that suggest a person might have a rare disease, facilitating diagnostic testing, and supporting people living with rare disease, including those without an aetiological diagnosis, in accessing evidence-based and integrated care.

The Recommendations incorporate the lived experience and expertise of people living with rare disease. They arose from an extensive multi-stakeholder consultation process, and were co-developed by health professionals, academics and people living with rare disease as part of the Australian Government-funded Rare Disease Awareness, Education, Support and Training (RArEST) Project.

The Recommendations have been endorsed by Rare Voices Australia, the national peak body for people living with a rare disease and 9 national colleges and bodies to date including the Human Genetics Society of Australasia, Australian Genomics, the Australian Rheumatology Association, the Australian College of Rural and Remote Medicine, and the Australian Primary Health Care Nurses Association. They have also been officially recognised as an Accepted Clinical Resource by The Royal Australian College of General Practitioners.