Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand

Natasha Heather; Ronda F Greaves; Kaustuv Bhattacharya; Lawrence Greed; James Pitt; Carol Wai-Kwan Siu; Mark de Hora; Ricky Price; Enzo Ranieri; Tiffany Wotton; Dianne Webster; Human Genetics Society of Australasia Newborn Screening Committee

doi:10.3390/ijns10030047

Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand

Int J Neonatal Screen. 2024 Jul 5;10(3):47. doi: 10.3390/ijns10030047.

Authors

Natasha Heather^{1

2}, Ronda F Greaves^{3

4}, Kaustuv Bhattacharya^{5

6

7}, Lawrence Greed⁸, James Pitt^{3

4}, Carol Wai-Kwan Siu⁹, Mark de Hora^{1

2}, Ricky Price¹⁰, Enzo Ranieri¹¹, Tiffany Wotton¹¹, Dianne Webster^{1

2}; Human Genetics Society of Australasia Newborn Screening Committee

Affiliations

¹ National Newborn Screening Laboratory, LabPlus, Health New Zealand Te Whatu Ora, Auckland 1023, New Zealand.
² Liggins Institute, University of Auckland, Auckland 1023, New Zealand.
³ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, Australia.
⁴ Department of Paediatrics, University of Melbourne, Parkville 3052, Australia.
⁵ Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, Sydney 2035, Australia.
⁶ Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney 2145, Australia.
⁷ Faculty of Medicine and Health Science, University of Sydney, Sydney 2006, Australia.
⁸ Western Australia Newborn Screening Program, Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Perth 6008, Australia.
⁹ Newborn Screening Laboratory, Department of Biochemical Genetics, Genetics & Molecular Pathology Directorate, SA Pathology, Women's & Children's Hospital, North Adelaide 5006, Australia.
¹⁰ Chemical Pathology, Pathology Queensland, Herston 4029, Australia.
¹¹ New South Wales Newborn Screening Programme, The Children's Hospital at Westmead, Sydney 2145, Australia.

Abstract

A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found on bloodspot screening panels. Operational definitions for target disorders and incidental findings were developed and applied to disorder lists. A gap analysis was performed between five, state-based Australian newborn screening programme disorder lists and the single national New Zealand and state-level Californian versions. Screening panels were found to be broadly similar. Gap analysis with Californian data reflected differences in jurisdictional approval (for example, haemoglobinopathies and lysosomal disorders not being recommended in Australasia). Differences amongst Australasian panels reflected varied the timeframes recommended in order to implement newly approved disorders, as well as decisions to remove previously screened disorders. A harmonised approach to disorder counting is essential to performing valid comparisons of newborn bloodspot screening panels.

Keywords: bloodspot screening; counting conditions; harmonization; newborn screening; screening panel.

Grants and funding

This research received no external funding.