| Title |
Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers
|
|---|---|
| Published in |
Journal of Genetic Counseling, August 2015
|
| DOI | 10.1007/s10897-015-9879-8 |
| Pubmed ID | |
| Authors |
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 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. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 60 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 60 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 10 | 17% |
| Other | 5 | 8% |
| Researcher | 5 | 8% |
| Student > Bachelor | 5 | 8% |
| Student > Doctoral Student | 4 | 7% |
| Other | 15 | 25% |
| Unknown | 16 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 20% |
| Biochemistry, Genetics and Molecular Biology | 6 | 10% |
| Nursing and Health Professions | 6 | 10% |
| Psychology | 5 | 8% |
| Social Sciences | 4 | 7% |
| Other | 7 | 12% |
| Unknown | 20 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 March 2016.
All research outputs
#14,842,329
of 22,856,968 outputs
Outputs from Journal of Genetic Counseling
#721
of 1,144 outputs
Outputs of similar age
#147,590
of 266,806 outputs
Outputs of similar age from Journal of Genetic Counseling
#17
of 25 outputs
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