A significant milestone for children with rare diseases in WA – Thanks to Telethon and the generosity of the WA community
L to R: North Metropolitan Health Service Acting Chief Executive Mr Joel Gurr, PathWest Head of Diagnostic Genomics Dr Dimitar Azmanov, Health Minister Hon Amber-Jade Sanderson, 12-year-old patient, Bayleigh, PathWest Chief Executive Dr Narelle Hadlow, Prof Nick Pachter from Genetic Health WA
It was a memorable day at PathWest on Wednesday 22 May, with the launch of the NovaSeq XP machine, a state-of-the-art genomic sequencer that will revolutionise the testing for rare diseases by examining a person’s genetic makeup. This significant advancement is a joint funding arrangement between Telethon and both PathWest and North Metropolitan Health Service (NMHS).
The introduction of whole genome sequencing through the new sequencer will provide patients and their families with 50 to 100 times more information than previously available. This breakthrough offers earlier and more precise diagnoses, improving the quality of life for those living with rare diseases.
The Telethon-sponsored project will enable the testing of 600 samples per year with the new sequencer opening possibilities for future assessment of thousands of samples per year.
The event was attended by the Health Minister Hon Amber-Jade Sanderson, 12-year-old patient Bayleigh and her family, our Chief Executive Dr Narelle Hadlow, NMHS Acting Chief Executive Mr Joel Gurr, PathWest Diagnostic Genomics Head of Department Dr Dimitar Azmanov, Prof Nick Pachter from Genetic Health WA, and representatives from Telethon. It was truly a day to remember for all involved.
We acknowledge the Communications teams at PathWest and NMHS for the photos.
Watch the Telethon7 Perth's coverage on Facebook here.