Jessica M Clarke¹, Melanie Galea¹, Luke Hesson¹.

¹Department of Molecular Genetics, Douglass Hanly Moir Pathology, Macquarie Park, 2113

The introduction of Medicare Benefits Schedule (MBS) item 73451 in late 2023, has facilitated more equitable access to reproductive carrier screening for the Australian population.¹ Since the introduction of this MBS item, the uptake of reproductive carrier screening has increased markedly, highlighting the important role federal funding plays on accessibility of critical healthcare services. 

Included in this MBS item is screening of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.^2,3 Many testing methods are available and utilised by genomic laboratories for CFTR screening, including both fragment analysis and sequencing based methods. A challenge faced by genomic laboratories today is in providing a service that is clinically responsible, sustainable and high throughput to maintain quality equitable access.

Here we outline a strategy for increasing the diagnostic yield of a commercially available multiplex PCR assay by identifying atypical results for orthogonal testing using both Sanger sequencing and MLPA. We show that this represents an efficient strategy for maximising the yield of reportable variants to meet the requirements of the MBS rebate. This ultimately provides a comprehensive and sustainable service for patients and genomic laboratories.

References:

1.       Australian Government Department of Health. (2024). Medicare Benefits Schedule: Item 73451. Available at: https://www.mbsonline.gov.au

2.       Cystic Fibrosis Australia. (2023). Cystic fibrosis standards of care: Australia. Available at: https://www.cysticfibrosis.org.au.

3.       CFTR2 Consortium. (2024). CFTR2 database. Cystic Fibrosis Foundation. Available at https://cftr2.org/