Leading the way in how we care for children living with rare genetic diseases

Thousands of children present to hospital with a rare disease every year. There are over 7,000 known rare diseases worldwide and there are new conditions being discovered every week. Out of all of these, over 70% of them have a genetic cause.

The Sydney Children’s Hospitals Network (SCHN) is part of several programs that aim to embed genomic testing and genetic medicine into clinical care. Such programs involve multidisciplinary teams of clinicians, clinical geneticists, researchers and clinicians, working together to provide world-class care to children living with rare conditions and diseases.

Over 1,000 children have been reviewed by the clinical genetics teams, leading to faster genetic diagnosis and improved care. Additionally, over 200 families at the Sydney Children's Hospital, Randwick, have opted to participate in the SCHN GeneSTART rare disease registry, an initiative aiming to reduce the isolation and uncertainty for those living with a rare disease by connecting families to resources, research and other families.

Many children have received new diagnoses for their ultra rare disease through the SCHN GeneAdd undiagnosed diseases program. The program supports patients with rare undiagnosed genetic conditions to participate in research to reach a diagnosis, helping families and enabling research for novel treatments.

The GeneSTART registry and GeneAdd program are part of the research integrated model of care called Gene2Care. Funding for the setup of Gene2Care was kindly provided through Luminesce Alliance and the National Health and Medical Research Council (NHMRC).

The teams behind these innovative programs include the Genomic and Clinical Genetic teams part of the Western Sydney Genetics Program primarily based at The Children’s Hospital at Westmead, and the Centre for Clinical Genetics at the Sydney Children’s Hospital, Randwick. All teams have seen significant achievements in their genomic programs, embedding genomics into clinical care and changing the way we care for children with rare diseases.