On this page
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Nominations
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Massively parallel sequencing
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Whole genome sequencing for the investigation of intellectual disability
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Emerging technology update
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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 mitochondrial 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