In this article, the author discusses the case for systematic genetic screening of newborns and children at-risk of developing or carrying mutations for Duchenne Muscular Dystrophy (DMD). Belgium remains the only country to conduct systematic newborn screening and follow-up testing for DMD. Germany, Wales and Canada have abandoned DMD routine genetic testing and the US has never implemented newborn screening. The US Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) recommends screening for 57 disorders, among which DMD does not feature. The author argues that past criteria for excluding DMD from routine screening, namely high rates of false positives and lack of treatment, no longer apply to the disease. She also highlights that growing progress in DMD genetic diagnosis and potential treatments should be considered. While ten years ago, no medical benefit resulted from newborn screening for DMD, today’s personalised therapeutic approaches show promise in slowing disease progression and, in some cases, reversing the underlying causes of DMD. Two drugs in late stage clinical development, Ataluren (PTC Therapeutics) and Drisapersen (Prosensa) demonstrate efficacy to increase dystrophin production – a key protein in muscle function – in DMD patients affected by several DMD gene mutations. The author therefore urges newborn screening committees to address the value of routine testing, enabling early disease management.
