Genomics

On this page

1. Nominations
1. ​​​Massively parallel sequencing
2. Whole genome sequencing for the investigation of intellectual​ disability
2. Emerging technology update
1. Whole genome sequencing for the investigation of mitochondrial disease

Nominations

Massively parallel sequencing

In 2017, a nomination was received to establish a whole genome sequencing service using Massively Parallel Sequencing (MPS). MPS is a new technology for whole exome or whole genome sequencing and has a range of applications in the prenatal, neonatal, paediatric and adult settings.

Actions

• The establishment of sequencing infrastructure in the NSW public​ system was a key component of achieving the goals laid out in the NSW Health Genomics Strategic Plan.
• Funding was provided to purchase the MPS equipment and develop a brokerage model for the ordering of genetic and genomics tests.
• A statewide service for whole genome and whole exome sequencing will be implemented.

Whole genome sequencing for the investigation of intellectual​ disability

In 2017, a nomination was received to establish a service for Whole Genome Sequencing (WGS) for children with intellectual disability. The Committee recommended that additional advice be sought.

Actions

• The Committee referred WGS to the Genomics Partnerships in Service Planning Committee for further analysis.
• A hub and spoke service delivery model was considered an important initiative to develop and test new approaches to the delivery of genetic and genomic services.
• Funding was secured through the Health Innovation Fund to assist in the development, piloting and evaluation of a NSW hub and spoke service delivery model for WGS.
• Project funding will run over four years.

Emerging technology update

Whole genome sequencing for the investigation of mitoch​ondrial disease

In 2019 an update was received on whole genome sequencing, which may be used to diagnose different forms of mitochondrial disease.

Outcomes

• local implementation underway
• update requested.​

Contact

New health technology enquiries can be emailed to: MOH-HealthTechNominations@health.nsw.gov.au