Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

Journal of Genetic Counseling
Emily C Lisi, Shawn E McCandless

Abstract

Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS) initiatives due to new screening technologies and emerging treatments. We developed a qualitative discussion tool to explore opinions of genetic healthcare providers (HCPs) regarding population-based NBS for MPS types 1 and 2, Pompe, Gaucher, Fabry, and Krabbe diseases. Thirty-eight telephone interviews conducted by a single researcher were analyzed and coded for thematic trends. Six major themes emerged: 1) treatment availability and efficacy is crucial; 2) early age of disease onset is important; 3) ambiguity regarding prognosis is undesirable; 4) parents' ability to make reproductive decisions is seen by some as a benefit of NBS; 5) paucity of resources for follow-up exists; and 6) the decision-making process for adding conditions to mandated NBS is concerning to HCPs. Among the LSDs discussed, Pompe was considered most appropriate, and Krabbe least appropriate, for NBS. MPS1 and MPS2 were overall considered favorably for screening, but MPS1 ranked higher, due to a perception of better efficacy of therapeutic options. Fabry and Gaucher diseases were viewed less favorably du...Continue Reading

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Citations

Oct 14, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Amy C YangManisha Balwani
Mar 10, 2017·Current Medical Research and Opinion·Christian J HendrikszStefan A Kolb
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Jan 14, 2021·Molecular Genetics and Metabolism Reports·Marina Dutra-ClarkeVirginia Kimonis
Mar 14, 2021·Expert Opinion on Pharmacotherapy·Richard SamEllen Sidransky
Jul 16, 2021·Journal of Genetic Counseling·Laiken PetersonDawn C Allain

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