RALEIGH, North Carolina, August 6, 2021 / PRNewswire / – Enabled 06 august, 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 screening program for Duchenne muscular dystrophy (DMD), in a hospital environment.
Andy bhattacharjee, who directs NCGM, a Neuberg Diagnostics laboratory services company based in North Carolina, who serves and performs the Duchenne tests for the Brigham, said that “ultimately several hospitals or clinic sites in North America may be interested in the clinical trials program to serve their community. It’s a good example of how we need to conduct testing for patients and families, and raise awareness of innovations in the field for optimized newborn care and new models of healthcare delivery. It is essential that screening tests for the early detection of rare pediatric genetic diseases are now implemented in a hospital setting to fill the gaps, allow better monitoring and the use of evolving treatment practices. ”
Newborn screening for DMD in hospitals is an intermediate step (called additional screening) and can identify newborns with DMD by biochemical and molecular testing algorithm, which can start timely medical care. Elevated enzymatic activity of creatine kinase (CK) or levels of CK protein measured by immunoassays in the blood may establish a suspicion of DMD and next generation targeted sequencing (tNGS) can be used as a second level or confirmatory reflective test. The combined two-step algorithm can avoid test-related disparities and initiate timely diagnosis and treatment follow-up.
SOURCE Neuberg Center for Genomic Medicine