Optimising newborn screening for galactosaemia: reclassifying GALE and GALM deficiencies as non-target conditions to improve specificity.

The studies demonstrated that performance of the automated total galactose and GALT assays is robust for our neonatal population.

However, attempting to formally include all four forms of galactosaemia as target conditions results in a lower total galactose cut-off and more false positives. With the need to consider balancing benefits vs.

harms, we recommend that screening for galactosaemia due to GALE-D or GALM-D be changed to non-target conditions in the Australian NBS framework.