Pathology

On this page

1. Nominations​
• Massively parallel sequencing
• Point of care testing for chlamydia and gonorrhea​
2. Emerging technology update
• 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 considered to be 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.

Point of care testing for chlamydia and gonorrhea

In 2018, a nomination was received for a point of care test to detect chlamydia and gonorrhoea. This is a nucleic acid amplification test approved by the Therapeutic Goods Administration. Randomised controlled trials of this test in rural communities showed some benefits when compared to conventional testing.

Actions

• The Committee referred this technology to the NSW Health Pathology point of care expert panel for assessment and potential introduction into the NSW Health system.

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