Ethical Considerations When Including Lysosomal Storage Disorders in Newborn Screening Programs

There is essentially unanimous agreement that newborn screening saves lives. Nevertheless, newborn screening—rated as one of the top 10 successes in public health in the first decade of the twenty-first century by the Centers for Disease Control and Prevention (Koppaka in JAMA 306(5):484–487, 2003)—faces multiple challenges, including questions about how conditions are added to the list of disorders for which screening is done in each state, about the need for parental consent for use of dried blood spots after screening, and the roles of parents in expansion of newborn screening. Such questions figure prominently in controversy surrounding Pennsylvania’s recent passage of House Bill1654, also called Hannah’s Law, which institutes newborn screening and follow-up for 6 lysosomal storage disorders including Krabbe, Fabry, Pompe, Niemann–Pick, types A and B, Gaucher diseases, and mucopolysaccharidosis type I, also called Hurler disease. This review article provides an historical perspective on newborn screening including discussion of how conditions came to be added to the Recommended Uniform Screening Panel, and an overview of current issues and concerns for key stakeholders including parents, healthcare providers, laboratorians, and legislators.