Neuberg Diagnostics’ NCGM supports Duchenne muscular dystrophy supplementary newborn screening
DMD newborn screening in hospitals is an interim step and can identify newborn patients with DMD by biochemical and molecular testing algorithm
Both CureDuchenne, a leading global non-profit focussed on finding and funding a cure for Duchenne muscular dystrophy, and Brigham and Women’s Hospital announced the first Duchenne muscular dystrophy (DMD), hospital-based testing programme.
Andy Bhattacharjee, who heads NCGM, a Neuberg Diagnostics laboratory services company based in North Carolina, that serves and performs Duchenne testing for the Brigham, said that “Ultimately several hospitals or clinic sites in North America may be interested in the clinical testing programme to serve their community. This is a good example of how we do need to drive testing for patients and families, and increase awareness of innovations in the field for optimised newborn care and new healthcare delivery models.”
He further added, “With rapid advancements in medical treatments, screening assays for early detection of rare paediatric genetic disease must be implemented in a hospital setting now to fill the gap, allow better follow up, and utilization of evolving treatment practices.”
DMD newborn screening in hospitals is an interim step (referred to as supplementary screening) and can identify newborn patients with DMD by biochemical and molecular testing algorithm, which allows medical care to be initiated in a timely fashion. Elevated creatine kinase (CK) enzyme activity or the CK protein levels measured by immunoassays in the blood can establish suspicion of DMD, and a follow-on targeted next-generation sequencing (tNGS) may be used as a second-tier or confirmatory reflexed test. The two-step combined algorithm, may avoid testing related disparities and initiate diagnosis and treatment follow-up in a timely fashion.
