This program aimed to streamline the rare diseases diagnostic journey for families through advanced genetic testing.
The program, established Gene2Care, to improve the standard of care, including timely and enhanced diagnoses and access to management and treatment. The family-centred program, funded by Luminesce Alliance, combines the efforts of Clinical Geneticists and Genetic Counsellors across Sydney Children’s Hospitals Network, while collaborating with world-leading experts in genomics. The program also incorporated GeneAdd a predisposition screening platform that utilises whole genome sequencing for diagnosing rare diseases in children. Additionally, it included a fellowship program to train young clinicians in interpreting and reporting genomic results, ensuring better understanding and informed management planning.
- NSW Health Pathology
- The Board Institute (USA)
- The Children’s Medical Research Institute
- The Sydney Children’s Hospital Network
- Westmead Hospital