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