Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

Michele A Lloyd-Puryear; Thomas O Crawford; Amy Brower; Kristin Stephenson; Tracy Trotter; Edward Goldman; Aaron Goldenberg; R Rodney Howell; Annie Kennedy; Michael Watson

doi:10.3390/ijns4010006

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

Int J Neonatal Screen. 2018 Jan 25;4(1):6. doi: 10.3390/ijns4010006. eCollection 2018 Mar.

Authors

Affiliations

¹ Parent Project Muscular Dystrophy, 401 Hackensack Avenue, 9th Floor, Hackensack, NJ 07601, USA.
² Departments of Neurology and Pediatrics, Johns Hopkins University, Baltimore, MD 21218, USA.
³ American College of Medical Genetics and Genomics, Bethesda, MD 20814, USA.
⁴ Muscular Dystrophy Association, Washington, DC 20006, USA.
⁵ Department of Pediatrics, University of California, San Francisco, CA 94143, USA.
⁶ Departments of Law and Medicine (Obstetrics and Gynecology), University of Michigan, Ann Arbor, MI 48109, USA.
⁷ Department of Bioethics, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA.
⁸ Miller School of Medicine, Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.

Abstract

Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne is a 100% fatal disease, the clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual's life span. In anticipation of the changing therapeutic landscape for the Duchenne community, Parent Project Muscular Dystrophy established a newborn screening (NBS) initiative. This initiative included a Bioethics and Legal Issues Workgroup to consider the bioethics and legal issues of NBS for Duchenne. The workgroup's discussion focused only on Duchenne NBS and met through conference calls over a one-year period of time seeking consensus on various identified issues. This article reports on the findings and recommendations from that workgroup.

Keywords: Duchenne; X-linked disease; carrier; muscular dystrophy; newborn screening.

Publication types

Review