Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy
Michelle A. Farrar, Didu Kariyawasam, Sarah Grattan, Klair Bayley, Mark R. Davis, Sandra Holland, Leigh B. Waddel, Kristi Jones, Michelle Lorentzos, Anja Ravine, Tiffany Wotton, Veronica Wiley, on behalf of the DMD NBS Working Group
Abstract
A pilot newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) study proposes to assess the feasibility of the screening procedure, temporal course of the various steps of screening, and the public acceptability of the program. This is particularly vital to ascertain as DMD is considered a 'non-treatable' disease and thus does not fit the traditional criteria for newborn screening. However, modern perspectives of NBS for DMD are changing and point to possible net benefits for children and their families undertaking NBS for DMD. The aim of this workshop was to establish pathways for the successful implementation and evaluation of a pilot NBS for DMD program in Australia. Consensus was reached as to the rationale for, potential benefits, risks, barriers and facilitators of screening, alongside the establishment of screening protocols and clinical referral pathways.