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Journal of Genetic Counseling

, Volume 25, Issue 2, pp 373–384 | Cite as

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

  • Emily C. LisiEmail author
  • Shawn E. McCandless
Original Research

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 due to later age of onset. The themes identified in this study must be addressed by decision-makers in expanding NBS for LSDs and may be applied to many diseases being considered for NBS in the future.

Keywords

Newborn screening Lysosomal storage diseases Qualitative research Healthcare providers’ opinions 

Abbreviations

NBS

Newborn screening

HCP

Healthcare providers

HSCT

Hematopoetic stem cell transplant

Notes

Acknowledgments

The authors would like to thank Aaron Goldenberg, Ph.D. and the Center for Genetics Research Ethics And Law (CGREAL) at Case Western Reserve University for their advice on study design, use of the ATLAS.ti 6.0 software, and critical reading of the manuscript. We also acknowledge Shire and Pfizer for unrestricted funding that made this study possible.

Conflict of interest

Emily C. Lisi and Shawn E. McCandless declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2015_9879_MOESM1_ESM.doc (71 kb)
Supplemental Table 1 (DOC 71 kb)
10897_2015_9879_MOESM2_ESM.doc (78 kb)
Supplemental Table 2 (DOC 78 kb)

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Copyright information

© National Society of Genetic Counselors, Inc. 2015

Authors and Affiliations

  1. 1.Department of Human Genetics, Division of Medical GeneticsEmory UniversityDecaturUSA
  2. 2.Center for Human GeneticsUniversity Hospitals Case Medical CenterClevelandUSA
  3. 3.Department of Genetic and Genome SciencesCase Western Reserve UniversityClevelandUSA

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