Community health

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1. Nominations
• Massively parallel sequencing
• Neurofibromatosis service
• ​Point of care testing for chlamydia and gonorrhoea​

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 identified as 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. 
  

Neurofibromatosis service

In 2017, a nomination was received to establish a new hub and spoke clinic model for the management of patients with neurofibromatosis (NF). The committee recommended that additional advice be sought from stakeholders and NSW Health bodies.

Actions 

• The committee recommended further analysis was required.
• The 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 provided to assist in the development, piloting and evaluation of a NSW hub and spoke service delivery model for NF. 

Point of care testing for chlamydia and gonorrhoea

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. 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 for possible introduction into the NSW Health system.​​​​​

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