Rapid genomic testing is transforming medical care – particularly the diagnosis of people with rare conditions. For some critically ill children, rapid genomic testing can even be lifesaving.

Queensland Genomics have produced a Genomics Information Toolkit for patients and families affected by rare disease. Information provided includes: what genomics is,
how it might help you or your family, where Queenslanders can get testing and the different kinds of genetic tests that are available.

Rare Disease Day is being celebrated on February 28th this year, with events being held by patient organisations including Genetic Support Network Victoria and Rare Voices Australia.

Although genomic sequencing is a powerful tool, it isn’t always the most appropriate test. This article explains when genomic sequencing will be most useful, and the associated benefits and risks.