DURBAN, South Africa, Aug. 7, 2021 /PRNewswire/ — On Aug 06, both CureDuchenne, a leading global nonprofit focused 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 program.
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 program 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 optimized newborn care and new healthcare delivery models.” He further added, “With rapid advancements in medical treatments, it is critical that screening assays for early detection of rare pediatric genetic disease are 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.