Our role in early detection of rare genetic disorders in newborns - thanks to PathWest Diagnostic Genomics and Clinical Biochemistry Newborn Bloodspot Screening laboratory teams

L-R: Mr Lawrence Greed, Mr Richard Allcock, Dr Simon Carrivick, Dr Dimitar Azmanov, Ms Francesca Moore L-R: Mr Lawrence Greed, Mr Richard Allcock, Dr Simon Carrivick, Dr Dimitar Azmanov, Ms Francesca Moore
04/08/2023

The WA Newborn Bloodspot Screening (NBS) Program is one of the WA health system’s most important and successful population health programs. All babies born in WA are eligible for screening for the detection of around 27 groups of extremely serious but treatable inherited conditions.

PathWest NBS Laboratory manages the Program and laboratory analysis of over 30,000 bloodspots each year. Of those, around 60 babies are identified with a specific disorder amenable to early detection and treatment. They are referred to medical specialists at Perth Children’s Hospital (PCH) for urgent care and further diagnostic testing by PathWest, giving these babies the best chance of leading as normal and healthy a life as possible.

For several disorders, analysis is time critical. The PathWest metropolitan and regional laboratories play a major role with the efficient and fast transport of samples to the central laboratory through our courier system.
History of WA NBS Program
The WA NBS Program started in 1969, screening for phenylketonuria (PKU), a rare disorder that, without prompt treatment, can cause irreversible intellectual impairment. Congenital hypothyroidism galactosaemia and cystic fibrosis screening were added later.
In 2004, mass spectrometry analysis enabled a significant expansion to the program with the addition of over 25 metabolic disorders. Congenital adrenal hyperplasia screening was introduced in 2022.
In 2023, two disorders were added to the WA NBS Program – spinal muscular atrophy (SMA) in January 2023 and severe combined immunodeficiency (SCID) in May 2023, which use DNA PCR analysis for the primary analysis.
The highly successful implementation of SMA and SCID to the WA NBS Program is the result of the close collaboration between the Diagnostic Genomics and the Clinical Biochemistry NBS laboratory teams.
The scope of NBS disorders is rapidly expanding with the development of new testing technologies and novel therapies – an exciting time for the PathWest NBS Program and for the whole WA community.
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Last Updated: 28/05/2024