Evidenced by the Australian Bureau of Statistics, there are more people in Australia living with a genetic, undiagnosed and rare disease than with diabetes or cancer. Each member of this community has a right to the highest attainable standard to physical and mental health, and to have access to a standard of living adequate for the health and wellbeing of their families. This is not the lived experience.

That is why InGeNA, which is on a mission to work collaboratively to integrate genomics into healthcare and deliver better health outcomes for patients, is proud to support the global movement to raise public awareness of rare diseases and the impact on people’s lives.

Rare Disease Day, on 28 February 2022, raises awareness among the public and decision-makers of the impact rare disease has on people’s lives and calls for recognition that not all Australians can live their best lives, there is not equitable access to testing and the solution requires a collaborative approach from everyone.

This year InGeNA will be involved with three of its members facilitating a workshop with the Genetic Support Network Victoria (GSNV) on Rare Disease Day.

Carl Stubbings from Genetic Technologies, Leigh Simmonds from Pfizer and Katie Ellis from Illumina will facilitate the Industry (Pharmaceuticals, Diagnostics and Pathology, Data and Technology) Workshop.

The purpose of the event is to generate a two-way exchange with patient support groups and experts within industry, on the challenges that are most likely to be faced in 2022 by the genetic, undiagnosed, and rare disease (GUaRD) community and those that support them in Australia.

The primary outcome of this event is for the community to feel part of a bigger collaborative effect for rare disease that leaves them feeling included, hopeful, and empowered.

The GSNV will work through the outcomes of these discussions as a consultation to drive priorities for action for 2022, activated at a local level by our Australian communities and individuals.